Prof Francesco Muntoni

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Personal Profile

Name: Francesco Muntoni Email: f.muntoni@ucl.ac.uk
Title: Prof Tel: 020 7905 2869
Department: ICH Developmental Neurosciences Prog Fax: 0207 905 2832
Position: Chair of Paediatric Neurology Address: 30 Guilford Street, , London, WC1N 1EH
Research Domain: Neuroscience, Populations & Lifelong Health Web Page: Personal Web Page

Profile

Research Description

I am a clinical paediatric neurologist with an interest in molecular aspects of neuromuscular disorders. I joined the Neuromuscular Unit at the Hammersmith in 1993, and became the Head of the Unit in 1996.

From a clinical perspective, this Neuromuscular Unit, named after Professor Victor Dubowitz, is the largest Paediatric Neuromuscular Unit in UK; it is recognised by the Muscular Dystrophy Campaign (the largest charity in this field); since 2001 the Unite was designated as a National reference centre by the Department of Health (NSCAG) for the work on clinical, pathological and genetic aspects related to congenital muscular dystrophies and myopathies. The Unit has its own diagnostic pathology laboratories, of which I am also responsible.

Regarding my contribution to research, an early original contributions was the discovery that the X-linked dilated cardiomyopathy (XLDCM) is secondary to a dystrophin gene abnormality (the same gene responsible for Duchenne muscular dystrophy). I have further characterised the molecular mechanisms responsible for this unusual phenotype since.

Another important area has been the establishment of international collaboration networks allowing the identification of a number of disease genes involved in neuromuscular disorders (12 novel genes in collaboration with external collaborators). My own group has also identified 2 novel loci for forms of congenital muscular dystrophy and three novel disease genes. One of these 2 genes (FKRP)  proved not only to be relevant for a rare form of congenital dystrophy, but also for a very common form of mild limb girdle muscular dystrophy. Allelic mutations in this gene are also found in severe variants of muscular dystrophy associated with structural brain involvement. We generated a knock-in animal model which phenotype faithfully recapitulates the human condition recapitulates and demonstrated that mutations in FKRP are responsible for a novel pathway involved in both muscular degeneration and for neuronal migration defects. Form a translational research perspective, I am interested in manipulation of splicing of genes involved in neuromuscular disorders. I am interested in the control of splicing of the SMN2 gene involved in spinal muscular atrophy, and have identified, in collaboration with Prof Eperon, a tailed antisense oligonucleotide which carry sequences that are involved in the recruitment of splicing proteins and induce a crucial exon inclusion in SMN2. A different approach, the use of antisense oligonucleotide to induce exon skipping in Duchenne muscular dystrophy, culminated in a Department of Health funded grant to establish a consortium for a phase I/II therapeutic trial of intramuscular antisense morpholino oligonucleotide in Duchenne muscular dystrophy that started in 2005 and was completed in 2008 (Muntoni PI). I subsequently obtained an MRC translational research grant to extend this study into a dose escalation, repeated intravenous morpholino antisense administration into young boys with Duchenne. This study started in February 2009 and is finished in March 2010. The results are very encouraging and have led to additional funding to perform additional studies both to target Duchenne individuals at later stage of disease progression, but also to assess the efficacy and safety of a new generation of antisense oligonucleotide, with the plan to perform a proof of concept study in 2013. These studies are supported by the GOSH Biomedical Research Centre and from the UCL MRC Neuromuscular Translational Research Centre, of which I am the Deputy Director.




Research Activities

Clinical trials

Genetics of brain disorders

Human neuromuscular diseases

Molecular genetics of childhood disease.

Molecular genetics of childhood inherited disorder

Motor Neuron and Neuromuscular Disorders

Neuromuscular and Neurodegenerative Disorders

Paediatric Neurology

The neurogenetics of neurodegenerative disease

peripheral nerve disease especially inherited neuropathies but also inflammatory neuropathies

Education Description

UCL Collaborators

Prof Andres Ruiz-Linares; Prof Adrian Thrasher; Prof Alan Thompson; Prof Tarek Yousry; Prof John Hardy; Prof Janet Darbyshire; Prof William Rosenberg; Dr Richard Orrell; Mr Hashim Ahmed; Prof Sebastian Brandner; Prof Elizabeth Fisher; Prof Michael Duchen; Dr Zarnie Khadjesari; Prof Michael Hanna; Prof Mary Reilly; Prof William Mckenna; Prof Elizabeth Murray; Prof Linda Greensmith; Prof Paul Wallace; Prof Nicholas Wood; Dr Shi-Yu Yang; Prof Martin Koltzenburg; Prof Irwin Nazareth; Dr Eddie Chung; Dr Ailbhe Mcdonald; Prof Perry Elliott; Prof Jenny Morgan

External Collaborators

Publications

    2014

    • Jonuschies J, Antoniou M, Waddington S, Boldrin L, Muntoni F, Thrasher A, Morgan J (2014). The Human Desmin Promoter Drives Robust Gene Expression for Skeletal Muscle Stem Cell-Mediated Gene Therapy.. Curr Gene Ther, , - .
    • Kaye J, Hurles M, Griffin H, Grewal J, Bobrow M, Timpson N, Smee C, Bolton P, Durbin R, Dyke S, Fitzpatrick D, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond LF, Semple R, Spector T (2014). Managing clinically significant findings in research: the UK10K example.. Eur J Hum Genet, , - . doi:10.1038/ejhg.2013.290
    • Feng L, Matthews A, Scoto M, Chambers D, Manzur A, Muntoni F, Phadke R, Sewry C (2014). The expression of embryonic and foetal myosin heavy chain isoforms in human muscle are useful indicators of abnormality in muscle biopsies.
    • Cortese A, Ellis M, Chambers D, Rahman S, Hargreaves I, Fratter C, Sewry CA, Muntoni F, Poulton J, Phadke R (2014). The confounding effect of age in the use of subsarcolemmal mitochondrial aggregates (SSMA) as a diagnostic muscle biopsy marker in paediatric mitochondrial disease.
    • Illingworth MA, Main M, Pitt M, Feng L, Sewry CA, Gunny R, Vorstman E, Beeson D, Manzur A, Muntoni F, Robb SA (2014). RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.. Neuromuscul Disord, , - . doi:10.1016/j.nmd.2014.05.003
    • Meng J, Chun S, Asfahani R, Lochmueller H, Muntoni F, Morgan J (2014). Human Skeletal Muscle-derived CD133(+) Cells Form Functional Satellite Cells After Intramuscular Transplantation in Immunodeficient Host Mice. MOLECULAR THERAPY, 22(5), 1008 - 1017. doi:10.1038/mt.2014.26
    • Yoon WW, Sedra F, Shah S, Wallis C, Muntoni F, Noordeen H (2014). Improvement of Pulmonary Function in Children With Early Onset Scoliosis Using Magnetic Growth Rods.. Spine (Phila Pa 1976), , - . doi:10.1097/BRS.0000000000000383
    • Thanopoulou I, Scoto M, Muntoni F, Martinez A (2014). A case of hyaline fibromatosis syndrome. JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 12, 10 - 11.
    • Asgarian Z, Meng J, Ferrer V, Muntoni F, Morgan J, Danos O, Councell J (2014). A comparison of the factors influencing the transfer of full-length dystrophin cDNA via a recombinogenic lentivirus system.
    • Chan SH, Reghan Foley A, Phadke R, Mathew AA, Pitt M, Sewry C, Muntoni F (2014). Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy.. Neuromuscul Disord, , - . doi:10.1016/j.nmd.2014.05.008
    • Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M, Niks E, Gualandi F, Pontén F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlén M, Cirak S, 't Hoen PA, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Al-Khalili Szigyarto C (2014). Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.. EMBO Mol Med, , - . doi:10.15252/emmm.201303724
    • Logan CV, Sharpe JA, De Stefani D, Raffaello A, Rizzuto R, Duchen MR, Muntoni F, Sheridan E, Szabadkai G (2014). Genetic defects in mitochondrial calcium handling cause neuromuscular disease. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 44, 47 - 47.
    • Foley AR, Pitceathly RD, He J, Kim J, Pearson NM, Muntoni F, Hanna MG (2014). Whole-genome sequencing and the clinician: a tale of two cities.. J Neurol Neurosurg Psychiatry, , - . doi:10.1136/jnnp-2013-306264
    • Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN, Members of the International Standard of Care Committee for Congenital Muscular Dystrophies (2014). Diagnostic approach to the congenital muscular dystrophies.. Neuromuscul Disord, , - . doi:10.1016/j.nmd.2013.12.011
    • Mazzone E, De Sanctis R, Fanelli L, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Schaefer K, D'Amico A, Colia G, Palermo C, Scoto M, Mayhew A, Eagle M, Servais L, Vigo M, Febrer A, Korinthenberg R, Jeukens M, de Viesser M, Totoescu A, Voit T, Bushby K, Muntoni F, Goemans N, Bertini E, Pane M, Mercuri E (2014). Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients.. Neuromuscul Disord, , - . doi:10.1016/j.nmd.2014.01.003
    • Sewry CA, Phadke R, Zaharieva I, Feng L, Manzur A, Ravenscroft G, Laing N, Muntoni F (2014). Pathological markers that can help direct molecular diagnosis of nemaline myopathy.

    2013

    • Zhou H, Janghra N, Mitrpant C, Dickinson RL, Anthony K, Price L, Eperon IC, Wilton SD, Morgan J, Muntoni F (2013). A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice.. Hum Gene Ther, 24(3), 331 - 342. doi:10.1089/hum.2012.211
    • Mahjneh I, Lochmüller H, Muntoni F, Abicht A (2013). DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.. Neuromuscul Disord, 23(1), 36 - 42. doi:10.1016/j.nmd.2012.06.355
    • Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H (2013). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.. Brain, , - . doi:10.1093/brain/awt315
    • Sanmaneechai O, Finkel R, Burns J, Muntoni F, Scherer S, Reilly M, Shy M (2013). Natural History Baseline of Hereditary Motor Sensory Peripheral Neuropathies That Caused by Mutations in the Myelin Protein Zero.
    • Sanmaneechai O, Laubenthal K, Shy R, Finkel R, Burns J, Muntoni F, Reilly M, Shy M (2013). The Charcot-Marie-Tooth (CMT) Infant Scale: A Pilot Study Testing the Ability of the Scale To Monitor Disease Progression in Infant and Children Younger Than Three Years Old.
    • Fernandez-Fuente M, Martin-Duque P, Vassaux G, Brown SC, Muntoni F, Terracciano CM, Piercy RJ (2013). Adenovirus-mediated expression of myogenic differentiation factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes.. Neuromuscul Disord, , - . doi:10.1016/j.nmd.2013.11.009
    • Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R, UK10K Consortium , Duchen MR, Muntoni F, Sheridan E (2013). Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.. Nat Genet, , - . doi:10.1038/ng.2851
    • Mercuri E, Muntoni F (2013). Muscular dystrophy: new challenges and review of the current clinical trials.. Curr Opin Pediatr, 25(6), 701 - 707. doi:10.1097/MOP.0b013e328365ace5
    • Garralda ME, McConachie H, Le Couteur A, Sriranjan S, Chakrabarti I, Cirak S, Guglieri M, Bushby K, Muntoni F (2013). Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy.. Child Care Health Dev, 39(3), 449 - 455. doi:10.1111/j.1365-2214.2012.01387.x
    • Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P, UK10K Consortium , Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F (2013). ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.. Brain, 136(Pt 1), 269 - 281. doi:10.1093/brain/aws312
    • Zaharieva IT, Calissano M, Scoto M, Preston M, Cirak S, Feng L, Collins J, Kole R, Guglieri M, Straub V, Bushby K, Ferlini A, Morgan JE, Muntoni F (2013). Dystromirs as serum biomarkers for monitoring the disease severity in duchenne muscular dystrophy.. PLoS One, 8(11), e80263 - . doi:10.1371/journal.pone.0080263
    • Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F (2013). Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing. EUROPEAN JOURNAL OF HUMAN GENETICS, 21(11), 1249 - 1252. doi:10.1038/ejhg.2013.31
    • Whitmore C, Fernandez-Fuente M, Booler H, Parr C, Kavishwar M, Ashraf A, Lacey E, Kim J, Terry R, Ackroyd MR, Wells KE, Muntoni F, Wells DJ, Brown SC (2013). The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.. Hum Mol Genet, , - . doi:10.1093/hmg/ddt577
    • Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F (2013). Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping.. JAMA Neurol, , - . doi:10.1001/jamaneurol.2013.4908
    • Paco S, Kalko SG, Jou C, Rodriguez MA, Cusi V, Corbera J, Torner F, Muntoni F, Feng L, Rivas E, Nascimento A, Colomer J, Jimenez-Mallebrera C (2013). Gene expression profiling identifies molecular pathways associated with collagen VI deficiency. doi:10.1016/j.nmd.2013.06.389
    • Anthony K, Ricotti V, Guglieri M, Servais L, Voit T, Bushby K, Straub V, Morgan J, Muntoni F (2013). Assessing T cell-mediated immune response to dystrophin in the natural history of Duchenne muscular dystrophy. doi:10.1016/j.nmd.2013.06.705
    • Scoto M, Rossor A, Harms MB, Calissano M, Cirak S, Foley AR, Sewry C, Hafezparast M, Robb S, Manzur AY, Baloh RH, Reilly MM, Muntoni F (2013). Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series. doi:10.1016/j.nmd.2013.06.478
    • Ricotti V, Ridout DA, Mercuri E, Quinlivan R, Robb SA, Manzur AY, Muntoni F (2013). DYSTROPHINOPATHY: FUNCTIONAL EVALUATION AND ORGAN INVOLVMENT. doi:10.1016/j.nmd.2013.06.406
    • Ricotti V, Scoto M, Mandy W, Entwistle K, Robb A, Pane M, Mercuri E, Skuse D, Muntoni F (2013). Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy. doi:10.1016/j.nmd.2013.06.418
    • Feng L, Scoto M, Chambers D, Phadke R, Muntoni F, Sewry CA (2013). The presence of developmental and fetal/neonatal myosin in neonatal human muscle. doi:10.1016/j.nmd.2013.06.546
    • Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Auh S, Muntoni F, Boennemann CG (2013). Natural history of pulmonary function in collagen VI-related myopathies: An international study. doi:10.1016/j.nmd.2013.06.386
    • Jaffer F, Reilly MM, Quinlivan R, Muntoni F, Turner C, Parton M, Lunn M, Hilton-Jones D, Korkodilos M, Hanna MG (2013). Emergency neuromuscular admissions are avoidable: a regional audit of unplanned hospital admissions of neuromuscular patients 2009-2011: final results and recommendations.. J Neurol Neurosurg Psychiatry, 84(11), e2 - . doi:10.1136/jnnp-2013-306573.7
    • Pitceathly RDS, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman J-W, Hanna MG (2013). NDUFA4 mutations underlie dysfunction of a cytochrome C oxidase subunit linked to human neurological disease. Cell Reports, 4(2), 402 - 402. doi:10.1016/j.celrep.2013.06.032
    • Ravenscroft G, Miyatake S, Lehtokari V-L, Todd EJ, Vomauen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJN, Nishino I, Wallgren-Pettersson C, Matsumoto N, laing NG (2013). Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. AMERICAN JOURNAL OF HUMAN GENETICS, 93(1), 6 - 18. doi:10.1016/j.ajhg.2013.05.004
    • Aartsma-Rus A, Muntoni F (2013). 194th ENMC international workshop. 3rd ENMC workshop on exon skipping: Towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8-10 December 2012, Naarden, The Netherlands.. Neuromuscul Disord, , - . doi:10.1016/j.nmd.2013.06.369
    • Stevens E, Torelli S, Feng L, Phadke R, Sewry CA, Muntoni F, Walter MC, Schneiderat P, Eddaoudi A (2013). Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies. PLoS ONE, 8(7), - . doi:10.1371/journal.pone.0068958
    • Ricotti V, Ridout DA, Muntoni F (2013). Steroids in Duchenne muscular dystrophy. Neuromuscular Disorders, , - . doi:10.1016/j.nmd.2013.06.373
    • Rossor AM, Scoto M, Harms M, Baloh R, Houlden H, Sewry C, Manzur A, Muntoni F, Reilly MM (2013). THE PHENOTYPIC GENETIC SPECTRUM OF PATIENTS WITH MUTATIONS IN CYTOPLASMIC DYNEIN HEAVY CHAIN 1 (DYNC1H1).
    • Sanmaneechai O, Feely SME, Finkel RS, Burns J, Muntoni F, Scherer SS, Reilly MM, Shy ME, INC-RDCRN (2013). NATURAL HISTORY BASELINE PHENOTYPE AND GENOTYPE OF HEREDITARY MOTOR SENSORY PERIPHERAL NEUROPATHIES CAUSED BY MUTATION IN THE MYELIN PROTEIN ZERO.
    • Burns J, Menezes MP, Shy R, Sanmaneechai O, Laura M, Muntoni F, Estilow T, Yum S, Finkel RS, Herrmann DN, Eichinger K, Moroni I, Pagliano E, Pareyson D, Reilly MM, Shy ME, Consortium IN (2013). TWO YEAR NATURAL HISTORY OF DISEASE PROGRESSION IN CHILDHOOD CHARCOT-MARIE-TOOTH DISEASE.
    • Sanmaneechai O, Laubenthal K, Shy R, Finkel RS, Burns J, Estilow T, Glanzman AM, Muntoni F, Reilly MM, Shy ME, INC-RDCRN (2013). THE CHARCOT-MARIE-TOOTH (CMT) DISEASE INFANT-TODDLER SCALE: DEVELOPING SCORING SYSTEM AND PILOT STUDY TESTING THE ABILITY OF THE SCALE TO ASSESS DISEASE SEVERITY IN INFANTS, TODDLERS AND SEVERELY AFFECTED CHILDREN WITH CMT.
    • Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH (2013). Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.. Am J Hum Genet, , - . doi:10.1016/j.ajhg.2013.10.020
    • Fletcher S, Meloni PL, Johnsen RD, Wong BL, Muntoni F, Wilton SD (2013). Antisense suppression of donor splice site mutations in the dystrophin gene transcript.. Mol Genet Genomic Med, 1(3), 162 - 173. doi:10.1002/mgg3.19
    • Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K (2013). Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.. Neurology, 80(5), 438 - 446. doi:10.1212/WNL.0b013e31827f0f66
    • Burke G, Hiscock A, Klein A, Niks EH, Main M, Manzur AY, Ng J, de Vile C, Muntoni F, Beeson D, Robb S (2013). Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.. Neuromuscul Disord, 23(2), 170 - 175. doi:10.1016/j.nmd.2012.11.004
    • Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG (2013). Natural history of pulmonary function in collagen VI-related myopathies.. Brain, , - . doi:10.1093/brain/awt284
    • Paco S, Kalko SG, Jou C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez C, Nascimento A, Colomer J, Jimenez-Mallebrera C (2013). Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.. PLoS One, 8(10), e77430 - . doi:10.1371/journal.pone.0077430
    • Reza M, Laval SH, Counsell J, Muntoni F, Morgan J, Lochmuller H (2013). Optimised dystrophin mini-constructs for gene delivery. doi:10.1016/j.nmd.2013.06.691
    • Oates EC, Rosser AM, Hafezparast M, Lek M, Scoto M, Greensmith L, Auer-Grumbach M, Schule R, Herrmann DN, Clarke NF, MacArthur DG, Zuechner S, Muntoni F, Reilly MM, North KN (2013). Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP). doi:10.1016/j.nmd.2013.06.560
    • Scoto M, Cirak S, Whyte T, Foley AR, Pitt M, Polke J, Hurles ME, Manzur AY, Reilly MM, Muntoni F, Consortium UU (2013). An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing. doi:10.1016/j.nmd.2013.06.435
    • Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG (2013). COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood. JAMA Neurol., , - . doi:10.1001/jamaneurol.2013.3242
    • Rokach O, Ullrich ND, Rausch M, Mouly V, Zhou H, Muntoni F, Zorzato F, Treves S (2013). Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization.. Biochem J, , - . doi:10.1042/BJ20130698
    • Yoshida-Moriguchi T, Willer T, Anderson ME, Venzke D, Whyte T, Muntoni F, Lee H, Nelson SF, Yu L, Campbell KP (2013). SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function.. Science, , - . doi:10.1126/science.1239951
    • Mayhew AG, Cano SJ, Scott E, Eagle M, Bushby K, Manzur A, Muntoni F (2013). Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy.. Dev Med Child Neurol, , - . doi:10.1111/dmcn.12220
    • Rossor AM, Oates EC, Hafezparast M, Cottenie E, Houlden H, Scoto M, Foley R, Clark N, Hermann DN, Grumbach AM, Zuchner S, Muntoni F, North K, Reilly MM (2013). A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA).
    • Burns J, Menezes MP, Shy R, Sanmaneechai O, Laura M, Muntoni F, Estilow T, Yum S, Finkel RS, Herrmann DN, Eichinger K, Moroni I, Pagliano E, Pareyson D, Reilly MM, Shy ME, Consortium IN (2013). DETERMINANTS OF BALANCE DEFICIT IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE.
    • Mazzone E, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Stein S, De Sanctis R, D'Amico A, Palermo C, Fanelli L, Scoto MC, Mayhew A, Eagle M, Vigo M, Febrer A, Korinthenberg R, de Visser M, Bushby K, Muntoni F, Goemans N, Sormani MP, Bertini E, Pane M, Mercuri E (2013). Six minute walk test in type III spinal muscular atrophy: A 12month longitudinal study.. Neuromuscul Disord, , - . doi:10.1016/j.nmd.2013.06.001
    • Carss K, Stevens E, Foley A, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore S, Messina S, Bertini E, Bönnemann C, Abdenur J, Grosmann C, Kesari A, Punetha J, Quinlivan R, Waddell L, Young H, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur D, North K, Hoffman E, Stemple D, Hurles M, van Bokhoven H, Campbell K, Lefeber D, Lin Y-Y, Muntoni F (2013). Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. American Journal of Human Genetics, , - .
    • Ellis JA, Vroom E, Muntoni F (2013). 195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands.. Neuromuscul Disord, , - . doi:10.1016/j.nmd.2013.05.008
    • Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, UK10K Consortium , Taanman JW, Hanna MG (2013). NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.. Cell Rep, , - . doi:10.1016/j.celrep.2013.05.005
    • Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H (2013). Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.. Neuromuscul Disord, 23(7), 540 - 548. doi:10.1016/j.nmd.2013.03.008
    • Mitrpant C, Porensky P, Zhou H, Price L, Muntoni F, Fletcher S, Wilton SD, Burghes AH (2013). Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy.. PLoS One, 8(4), e62114 - . doi:10.1371/journal.pone.0062114
    • Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H (2013). ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.. Hum Mutat, 34(8), 1111 - 1118. doi:10.1002/humu.22342
    • Zhou H, Rokach O, Feng L, Munteanu I, Mamchaoui K, Wilmshurst JM, Sewry C, Manzur AY, Pillay K, Mouly V, Duchen M, Jungbluth H, Treves S, Muntoni F (2013). RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.. Hum Mutat, 34(7), 986 - 996. doi:10.1002/humu.22326
    • Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC, UK10K Consortium , Stemple D, Lin YY, Muntoni F (2013). Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.. Am J Hum Genet, 92(3), 354 - 365. doi:10.1016/j.ajhg.2013.01.016
    • Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, DeVile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA (2013). DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children. Neuromuscular Disorders, , - .
    • Counsell J, Ferrer V, Meng J, Morgan J, Muntoni F, Danos O (2013). Development of a recombinogenic lentivirus for the delivery of full-length human dystrophin cDNA.
    • Meng J, Asfahani R, Chun S, Muntoni F, Morgan J (2013). Human skeletal muscle-derived AC133+cells form functional satellite cells after intramuscular transplantation into immunodeficient host mice.
    • Burns J, Menezes M, Finkel RS, Estilow T, Moroni I, Pagliano E, Laurá M, Muntoni F, Herrmann DN, Eichinger K, Shy R, Pareyson D, Reilly MM, Shy ME (2013). Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.. J Peripher Nerv Syst, 18(2), 177 - 180. doi:10.1111/jns5.12024
    • Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V (2013). Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype. Neuromuscular Disorders, , - .
    • Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S, UK10K , Muntoni F, North KN, Reilly MM (2013). Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.. Am J Hum Genet, 92(6), 965 - 973. doi:10.1016/j.ajhg.2013.04.018
    • Pane M, Scalise R, Berardinelli A, D'Angelo G, Ricotti V, Alfieri P, Moroni I, Hartley L, Pera MC, Baranello G, Catteruccia M, Casalino T, Romeo DM, Graziano A, Gandioli C, Bianco F, Mazzone ES, Lombardo ME, Scoto M, Sivo S, Palermo C, Gualandi F, Sormani MP, Ferlini A, Bertini E, Muntoni F, Mercuri E (2013). Early neurodevelopmental assessment in Duchenne muscular dystrophy.. Neuromuscul Disord, 23(6), 451 - 455. doi:10.1016/j.nmd.2013.02.012
    • Mercuri E, Muntoni F (2013). Muscular dystrophies.. Lancet, 381(9869), 845 - 860. doi:10.1016/S0140-6736(12)61897-2
    • Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, Cullup T, Feng L, Manzur AY, Sewry CA, Abbs S, Jungbluth H, Muntoni F (2013). Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.. Neuromuscul Disord, 23(3), 195 - 205. doi:10.1016/j.nmd.2013.01.004
    • McCormack P, Woods S, Aartsma-Rus A, Hagger L, Herczegfalvi A, Heslop E, Irwin J, Kirschner J, Moeschen P, Muntoni F, Ouillade MC, Rahbek J, Rehmann-Sutter C, Rouault F, Sejersen T, Vroom E, Straub V, Bushby K, Ferlini A (2013). Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational.. PLoS Curr, 5, - . doi:10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec
    • Løseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, Kamsteeg EJ, Lammens M, Broman M, Dekomien G, Maddison P, Muntoni F, Sewry C, Radunovic A, de Visser M, Straub V, van Engelen B, Jungbluth H (2013). A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.. J Neurol, 260(6), 1504 - 1510. doi:10.1007/s00415-012-6817-7

    2012

    • Meilleur KG, Jain M, Kim E, Hynan L, Shieh CY, Waite M, Duong T, Glanzman A, Main M, Rose K, McGuire M, Bendixen R, Foley R, Donkervoort S, Schindler A, Kokkinis A, Hartnett EJ, Leach M, Dastgir J, North K, Muntoni F, Rutkowski A, Bonnemann CG (2012). Clinical outcome measures in Collagen 6 (COL6) and Laminin alpha 2(LAMA2) related congenital muscular dystrophy. doi:10.1016/j.nmd.2012.06.296
    • Lillis S, Abbs S, Mueller CR, Muntoni F, Jungbluth H (2012). Clinical utility gene card for: Central core disease.. Eur J Hum Genet, 20(2), - . doi:10.1038/ejhg.2011.179
    • Mahjneh I, Lochmueller H, Muntoni F, Abicht A (2012). DOK 7 limb girdle myasthenic syndrome mimicking congenital muscular dystrophy. doi:10.1016/j.nmd.2012.06.096
    • Arechavala-Gomeza V, Feng L, Morgan JE, Muntoni F (2012). Correspondence: Measuring dystrophin-faster is not necessarily better.. Nat Rev Neurol, 8(8), 469 - . doi:10.1038/nrneurol.2012.15-c1
    • Ross J, Benn A, Jonuschies J, Boldrin L, Muntoni F, Morgan JE, Hewitt JE, Brown SC (2012). Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic large mouse. Stem Cells, 30(10), 2330 - 2341. doi:10.1002/stem.1197
    • Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB (2012). Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.. Brain, 135(Pt 9), 2875 - 2882. doi:10.1093/brain/aws161
    • Cazzella V, Martone J, Pinnarò C, Santini T, Twayana SS, Sthandier O, D'Amico A, Ricotti V, Bertini E, Muntoni F, Bozzoni I (2012). Exon 45 Skipping Through U1-snRNA Antisense Molecules Recovers the Dys-nNOS Pathway and Muscle Differentiation in Human DMD Myoblasts. Molecular Therapy, , - .
    • Kim J, Jimenez-Mallebrera C, Foley AR, Fernandez-Fuente M, Brown SC, Torelli S, Feng L, Sewry CA, Muntoni F (2012). Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.. Neuromuscul Disord, 22(2), 139 - 148. doi:10.1016/j.nmd.2011.08.006
    • Stevens E, Torelli S, Feng L, Sewry C, Muntoni F (2012). Flow cytometry in the assessment of functional alpha-dystroglycan glycosylation in dystroglycanopathy patient fibroblasts.
    • Pandraud A, Johnson JO, Singleton AB, Clayton P, Land J, Hargreaves I, Foley AR, Muntoni F, Reilly MM, Houlden H (2012). Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies.
    • Foley AR, Phadke R, Feng L, Sewry CA, Muntoni F (2012). Getting to the core of the matter: cores as a common muscle pathology finding in the collagen VI-related myopathies.
    • Foley AR, Phadke R, Feng L, Sewry CA, Muntoni F (2012). Getting to the core of the matter: Cores as a common muscle pathology finding in the collagen VI-related myopathies. doi:10.1016/j.nmd.2012.06.087
    • Foley AR, Broomfield AA, Pandraud A, Johnson JO, Singleton AB, Hargreaves IP, Land JM, Grunewald S, Rahman S, Clayton P, Houlden H, Reilly MM, Muntoni F (2012). High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement.
    • Munteanu I, Zhou H, Hargreaves I, Yasukawa T, Duchen MR, Muntoni F (2012). Investigating mitochondria in cell culture models of core myopathies.
    • Pandraud A, Clayton P, Foley AR, Muntoni F, Johnson JO, Singleton AB, Reilly MM, Houlden H (2012). INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE, 35, S18 - S18.
    • Cirak S, Foley RA, Herrmann R, Willer T, Elisabeth S, Yau M, Brodd L, Torelli S, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nurnberg P, Plagnol V, Hurles M, Sewry CA, Campbell KP, Voit T, Muntoni F, Consortium WTU (2012). Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies. doi:10.1016/j.nmd.2012.06.036
    • Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH (2012). Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.. Neurology, 78(22), 1714 - 1720. doi:10.1212/WNL.0b013e3182556c05
    • Ricotti V, Mandy WPL, Robb SA, Skuse DH, Muntoni F (2012). Neurobehavioural disorders in Duchenne Muscular dystrophy.
    • Muntoni F (2012). Novel Neuromuscular Diseases. doi:10.1016/j.nmd.2012.06.011
    • Reza M, Laval S, Muntoni F, Bushby K, Straub V, Morgan J, Lochmueller H (2012). Optimal dystrophin mini-construct for gene delivery to skeletal muscle.
    • Ricotti V, Theodorou M, Jaegle H, Muntoni F, Thompson DA (2012). Ocular characteristics of Duchenne Muscular Dystrophy. doi:10.1016/j.nmd.2012.06.280
    • Thompson D, Jaegle H, Theodorou M, Moore T, Ricotti V, Muntoni F (2012). Ocular findings in Duchenne muscular dystrophy - an observational case series.
    • Pane M, Messina S, Vasco G, Foley AR, Morandi L, Pegoraro E, Mongini T, D'Amico A, Bianco F, Lombardo ME, Scalise R, Bruno C, Berardinelli A, Pini A, Moroni I, Mora M, Toscano A, Moggio M, Comi G, Santorelli FM, Bertini E, Muntoni F, Mercuri E (2012). Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.. Neuromuscul Disord, 22(8), 685 - 689. doi:10.1016/j.nmd.2012.05.006
    • Ross J, Lechertier T, Morgan J, Muntoni F, Hodivala-Dilke K, Conti F (2012). Roles of alpha 3-integrin in development of the neuromuscular system.
    • Zhou H, Feng L, Munteanu I, Duchen M, Treves S, Jungbluth H, Muntoni F (2012). RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling and induces the second calcium release system via IP3R.
    • Anthony K, Feng L, Arechavala-Gomeza V, Guglieri M, Straub V, Bushby K, Cirak S, Morgan J, Muntoni F (2012). Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen.. Hum Gene Ther Methods, 23(5), 336 - 345. doi:10.1089/hgtb.2012.117
    • Arechavala-Gomeza V, Cirak S, Anthony K, Morgan J, Muntoni F (2012). Exon-skipping therapy for Duchenne muscular dystrophy - Authors' reply.. Lancet, 379(9811), e10 - e11. doi:10.1016/S0140-6736(12)60064-6
    • Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M (2012). Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.. J Neurol, 259(8), 1673 - 1685. doi:10.1007/s00415-011-6397-y
    • Zaharieva I, Cirak S, Morgan J, Muntoni F (2012). Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy.
    • Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP (2012). ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.. Nat Genet, 44(5), 575 - 580. doi:10.1038/ng.2252
    • Ricotti V, Ridout DA, Scott E, Quinlivan R, Robb SA, Manzur AY, Muntoni F, Manzur A, Robb S, Main M, Bushby K, Straub V, Sarkozy A, Guglieri M, Strehle E, Eagle M, Mayhew A, Roper H, McMurchie H, Childs A, Pysden K, Pallant L, Spinty S, Peachey G, Shillington A, Wraige E, Jungbluth H, Sheehan J, Spahr R, Hughes I, Bateman E, Cammiss C, Willis T, Groves L, Emery N, Baxter P, Senior M, Hartley L, Parsons B, Majumdar A, Jenkins L, Naismith K, Keddie A, Horrocks I, Di Marco M, Chow G, Miah A, de Goede C, Thomas N, Geary M, Palmer J, White C, Greenfield K (2012). Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry, , - .
    • Reza M, Johnson D, Cox D, Laval S, Chaouch A, Barresi R, Morgan J, Bushby K, Straub V, Muntoni F, Lochmueller H (2012). MRC NMD Centre Biobank: An overview.
    • Adkin CF, Meloni PL, Fletcher S, Adams AM, Muntoni F, Wong B, Wilton SD (2012). Multiple exon skipping strategies to by-pass dystrophin mutations.. Neuromuscul Disord, 22(4), 297 - 305. doi:10.1016/j.nmd.2011.10.007
    • Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C (2012). Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.. Am J Hum Genet, 90(2), 201 - 216. doi:10.1016/j.ajhg.2011.12.004
    • Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H (2012). Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.. Neuromuscul Disord, 22(12), 1096 - 1104. doi:10.1016/j.nmd.2012.06.007
    • Scoto M, Cullup T, Cirak S, Yau M, Feng L, Manzur A, Jungbluth H, Abbs S, Sewry C, Muntoni F (2012). Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing. NEUROMUSCULAR DISORDERS, 22, S31 - S31.
    • Jain RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG (2012). Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.. Neurology, 78(14), 1100 - 1103. doi:10.1212/WNL.0b013e31824e8ebe
    • Ricotti V, Scoto M, Mandy WPL, Entwistle K, Robb SA, Mercuri E, Skuse DH, Muntoni F (2012). Neurobehavioural disorders in Duchenne Muscular Dystrophy. doi:10.1016/j.nmd.2012.06.278
    • Clement EM, Feng L, Mein R, Sewry CA, Robb SA, Manzur AY, Mercuri E, Godfrey C, Cullup T, Abbs S, Muntoni F (2012). Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.. Neuromuscul Disord, 22(6), 522 - 527. doi:10.1016/j.nmd.2012.01.010
    • Cirak S, Feng L, Anthony K, Arechavala-Gomeza V, Torelli S, Sewry C, Morgan JE, Muntoni F (2012). Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.. Mol Ther, 20(2), 462 - 467. doi:10.1038/mt.2011.248
    • Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Eichinger K, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS (2012). Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.. Clin Biomech (Bristol, Avon), 27(7), 744 - 747. doi:10.1016/j.clinbiomech.2012.02.006
    • Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A (2012). The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.. BMC Med Genet, 13, 20 - . doi:10.1186/1471-2350-13-20
    • Mercuri E, Muntoni F (2012). The ever-expanding spectrum of congenital muscular dystrophies.. Ann Neurol, 72(1), 9 - 17. doi:10.1002/ana.23548
    • Popplewell L, Arechavala V, Saleh A, Muntoni F, Gait M, Dickson G (2012). The next DMD exon skipping trial: selection of AO target.
    • Zhou H, Janghra N, Anthony K, Morgan J, Muntoni F (2012). A morpholino antisense oligonucleotide rescues type I and type III SMA mice.
    • Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K (2012). A mutation in the thyroid hormone receptor alpha gene.. N Engl J Med, 366(3), 243 - 249. doi:10.1056/NEJMoa1110296
    • Arechavala-Gomeza V, Anthony K, Morgan J, Muntoni F (2012). Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges.. Curr Gene Ther, 12(3), 152 - 160.
    • Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM (2012). BAG3 mutations: another cause of giant axonal neuropathy.. J Peripher Nerv Syst, 17(2), 210 - 216. doi:10.1111/j.1529-8027.2012.00409.x
    • Zaharieva I, Cirak S, Kotelnikova E, Mazo I, Ferlini A, Morgan J, Muntoni F (2012). BIO-NMD: Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy. doi:10.1016/j.nmd.2012.06.266
    • Zaharieva I, Cirak S, Kole R, Ferlini A, Morgan J, Muntoni F (2012). BIO-NMD: Identifying serum miRNAs as biomarkers for diagnosis and monitoring therapeutic interventions in Duchenne Muscular Dystrophy. doi:10.1016/j.nmd.2012.06.265
    • Stevens E, Caress K, Torelli S, Lin Y-Y, Cirak S, Foley R, Stemple D, Hurles M, Muntoni F (2012). Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies.
    • Stevens E, Carss K, Cirak S, Torelli S, Foley AR, Sewry C, Topaloglu H, Haliloglu G, Stemple D, Hurles M, Lin YY, Muntoni F (2012). Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies. doi:10.1016/j.nmd.2012.06.035
    • Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS (2012). Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.. Ann Neurol, 71(5), 642 - 652. doi:10.1002/ana.23572
    • Lillis S, Abbs S, Ferreiro A, Muntoni F, Jungbluth H (2012). Clinical utility gene card for: Multi-minicore disease.. Eur J Hum Genet, 20(2), - . doi:10.1038/ejhg.2011.180
    • Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof C, Verschuuren J, Artsma-Rus A, Helderman-van den Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan J, Muntoni F (2012). Correlation of internally deleted dystrophin and dystrophin-associated protein expression with clinical severity in Becker muscular dystrophy.
    • Scoto M, Baloh RH, Cirak S, Harms M, Cooper P, Feng L, Sewry C, Manzur A, Muntoni F (2012). Cytoplasmic Dynein Heavy Chain 1 causes autosomal recessive congenital distal SMA.
    • Scott E, Eagle M, Mayhew A, Freeman J, Main M, Sheehan J, Manzur A, Muntoni F, North Star Clinical Network for Paediatric Neuromuscular Disease (2012). Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy.. Physiother Res Int, 17(2), 101 - 109. doi:10.1002/pri.520
    • Main M, Hiscock A, Muntoni F (2012). Dislocating patellae in children with CMT1a. doi:10.1016/j.nmd.2012.06.220
    • Boldrin L, Neal A, Zammit PS, Muntoni F, Morgan JE (2012). Donor satellite cell engraftment is significantly augmented when the host niche is preserved and endogenous satellite cells are incapacitated.. Stem Cells, 30(9), 1971 - 1984. doi:10.1002/stem.1158
    • Fletcher S, Adkin CF, Meloni P, Wong B, Muntoni F, Kole R, Fragall C, Greer K, Johnsen R, Wilton SD (2012). Targeted exon skipping to address "leaky" mutations in the dystrophin gene.. Mol Ther Nucleic Acids, 1, e48 - . doi:10.1038/mtna.2012.40
    • Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F (2012). 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands.. Neuromuscul Disord, 22(5), 453 - 462. doi:10.1016/j.nmd.2011.12.003
    • Whitmore C, Booler H, Terry R, Ashraf A, Parr C, Ackroyd MR, Fernandez-Fuente M, Muntoni F, Wells DJ, Brown SC (2012). Assessing the therapeutic potential of LARGE in a mouse model for the limb girdle muscular dystrophies.
    • Jonuschies J, Boldrin L, Thrasher A, Muntoni F, Morgan J (2012). Assessment of potential promoters for lentiviral gene therapy in DMD.
    • Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F (2012). Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy. doi:10.1016/j.nmd.2012.06.196
    • Main M, Hiscock A, Selby V, Muntoni F (2012). Using the Motor Function Measure (MFM) in the assessment of children with Charcot-Marie-Tooth (CMT)1A; strengths and limitations. doi:10.1016/j.nmd.2012.06.294
    • Feng L, Phadke R, Muntoni F, Sewry C (2012). What do MHCn and MHCd antibodies recognise?.
    • Trump N, Cullup T, Verheij JB, Manzur A, Muntoni F, Abbs S, Jungbluth H (2012). X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.. Neuromuscul Disord, 22(5), 384 - 388. doi:10.1016/j.nmd.2011.11.004
    • Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet P-Y, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F (2012). Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012). HUMAN MUTATION, 33(8), 1310 - 1310. doi:10.1002/humu.22136
    • Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F (2012). Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.. Hum Mutat, 33(6), 981 - 988. doi:10.1002/humu.22056

    2011

    • Farmer S, Lorain S, Thrasher A, Garcia L, Muntoni F, Conti F (2011). Correction of FKRP function via RNA trans-splicing.
    • Lin YY, White RJ, Torelli S, Cirak S, Muntoni F, Stemple DL (2011). Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.
    • Lin YY, White RJ, Torelli S, Cirak S, Muntoni F, Stemple DL (2011). Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.. Hum Mol Genet, 20(9), 1763 - 1775. doi:10.1093/hmg/ddr059
    • Burns J, Finkel R, Estilow T, Hiscock A, Laura M, Swingle P, Patzko A, Glanzman A, Acsadi G, Muntoni F, Reilly M, Pareyson D, Moroni I, Pagliano E, Ramchandren S, Eichinger K, Ryan M, Ouvrier R, Shy M, Shy R (2011). Development, Reliability and Validity of the Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS).
    • Burns J, Finkel R, Estilow T, Hiscock A, Laura M, Swingle P, Patzko A, Glanzman A, Acsadi G, Muntoni F, Reilly MM, Pareyson D, Moroni I, Pagliano E, Ramchandren S, Eichinger K, Ryan M, Ouvrier RA, Shy R, Shy ME (2011). DEVELOPMENT, RELIABILITY AND VALIDITY OF THE CHARCOT-MARIE-TOOTH DISEASE PEDIATRIC SCALE (CMTPEDS).
    • Mercuri E, Bushby K, McDonald C, Goemans N, Muntoni F, Darras BT, Elfring GL, Barth J, Reha A, Peltz SW (2011). Disease progression observed in clinical outcome measures in placebo-treated patients with nonsense mutation dystrophinopathy. doi:10.1016/j.nmd.2011.06.793
    • Main ML, Selby V, Muntoni F (2011). The effect of joint hypermobility on children with neuromuscular disorders: Considerations for natural history studies and the interpretation of outcome measures. doi:10.1016/j.nmd.2011.06.768
    • Sewry C, Jungbluth H, Feng L, Muntoni F (2011). The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
    • Sewry C, Jungbluth H, Feng L, Muntoni F (2011). The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
    • Ambegaonkar G, Manzur AY, Robb SA, Kinali M, Muntoni F (2011). The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant.. Eur J Paediatr Neurol, 15(4), 316 - 319. doi:10.1016/j.ejpn.2011.01.007
    • Aartsma-Rus A (2011). The risks of therapeutic misconception and individual patient (n=1) "trials" in rare diseases such as Duchenne dystrophy.. Neuromuscul Disord, 21(1), 13 - 15. doi:10.1016/j.nmd.2010.09.012
    • Lu QL, Yokota T, Takeda S, Garcia L, Muntoni F, Partridge T (2011). The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy.. Mol Ther, 19(1), 9 - 15. doi:10.1038/mt.2010.219
    • Stevens E, Torelli S, Tinsley J, Muntoni F (2011). The versatility of flow cytometry in the assessment of functional alpha-dystroglycan glycosylation. doi:10.1016/j.nmd.2011.06.837
    • Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltrán-Valero de Bernabé D, Gündeşli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloğlu H, Dinçer P, Campbell KP (2011). A dystroglycan mutation associated with limb-girdle muscular dystrophy.. N Engl J Med, 364(10), 939 - 946. doi:10.1056/NEJMoa1006939
    • Loseth S, Lillis S, Torbergsen T, Jonsrud C, Lindal S, Maddison P, Muntoni F, Sewry C, Abbs S, Straub V, Jungbluth H (2011). An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene. doi:10.1016/j.nmd.2011.06.937
    • Ricotti V, Manzur AY, Scott E, Muntoni F, NorthStar CN (2011). Benefits and adverse effects of glucocorticoids in boys with Duchenne Muscular Dystrophy. doi:10.1016/j.nmd.2011.06.970
    • Muller T, Cirak S, Parton M, Lunn M, Hanna MG, Muntoni F (2011). An integrative database for clinical and research studies in neuromuscular diseases.
    • Muntoni F (2011). Antisense therapy of muscular dystrophies.
    • Mazzone E, Bianco F, Martinelli D, Glanzman AM, Messina S, De Sanctis R, Main M, Eagle M, Florence J, Krosschell K, Vasco G, Pelliccioni M, Lombardo M, Pane M, Finkel R, Muntoni F, Bertini E, Mercuri E (2011). Assessing upper limb function in nonambulant SMA patients: development of a new module.. Neuromuscul Disord, 21(6), 406 - 412. doi:10.1016/j.nmd.2011.02.014
    • Heemskerk H, Meng J, Chun S, Asfahani R, Muntoni F, Morgan J (2011). Assessment of the variability between human AC133+stem cells of different donors in delivery to skeletal muscle and subsequent contribution to muscle regeneration. HUM GENE THER, 22(10), A62 - A62.
    • Trump N, Cullup T, Muntoni F, Verheij J, Jungbluth H (2011). X-linked myotubular myopathy due to a complex rearrangement involving exon 10 of the myotubularin (MTM1) gene. doi:10.1016/j.nmd.2011.06.932
    • Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, de Bernabe DBV, Gundesli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MBA, Accardi A, Talim B, Muntoni F, Topaloglu H, Dincer P, Campbell KP (2011). BRIEF REPORT A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy. NEW ENGL J MED, 364(10), 939 - 946.
    • Laura M, Murphy SM, Rossor A, Hiscock A, Main M, Shy ME, Muntoni F, Reilly MM (2011). Charcot-Marie-Tooth disease and related disorders: a natural history study.
    • Klein A, Lillis S, Oprea I, Scoto M, Robb S, Manzur A, Straub V, Roper H, Jeannet PY, Kingston H, Jensen UB, Wraige E, Trump N, Rakowicz W, Roberts M, Longman C, Lochmuller H, Bushby K, Hughes MI, Abbs S, Jungbluth H, Muntoni F (2011). Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene. doi:10.1016/j.nmd.2011.06.935
    • Farmer S, Lorain S, Thrasher A, Garcia L, Muntoni F, Conti F (2011). Correction of FKRP function via RNA trans-splicing. doi:10.1016/j.nmd.2011.06.1016
    • Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H (2011). Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.. J Neurol, , - . doi:10.1007/s00415-011-6262-z
    • Jungbluth H, Sewry CA, Muntoni F (2011). Core myopathies.. Semin Pediatr Neurol, 18(4), 239 - 249. doi:10.1016/j.spen.2011.10.005
    • Owen N, Zhou H, Malygin AA, Sangha J, Smith LD, Muntoni F, Eperon IC (2011). Design principles for bifunctional targeted oligonucleotide enhancers of splicing.. Nucleic Acids Res, 39(16), 7194 - 7208. doi:10.1093/nar/gkr152
    • Duchen MR, Heath K, Baruch NB, Hanna MG, Muntoni F (2011). Dysregulation of calcium and mitochondrial function as potential therapeutic targets in muscle disease.
    • Godfrey C, Foley AR, Clement E, Muntoni F (2011). Dystroglycanopathies: coming into focus.. Curr Opin Genet Dev, 21(3), 278 - 285. doi:10.1016/j.gde.2011.02.001
    • Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van den Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F (2011). Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.. Brain, 134(Pt 12), 3547 - 3559. doi:10.1093/brain/awr291
    • Burns J, Finkel R, Estilow T, Hiscock A, Laura M, Swingle P, Patzko A, Glanzman A, Acsadi G, Muntoni F, Reilly MM, Pareyson D, Moroni I, Pagliano E, Ramchandren S, Eichinger K, Ryan M, Ouvrier RA, Shy R, Shy ME (2011). FOOT AND ANKLE SYMMETRY IN CHARCOT-MARIE-TOOTH DISEASE.
    • Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ (2011). Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.. Neuromuscul Disord, 21(1), 20 - 30. doi:10.1016/j.nmd.2010.08.007
    • Whitmore C, Ackroyd MR, Ashraf A, Muntoni F, Brown SC (2011). Generation of a new mouse model for therapeutic testing in the dystroglycanopathies.
    • Whitmore C, Ackroyd MR, Ashraf A, Alyoshkin B, Muntoni F, Brown SC (2011). Generation of a new mouse model for therapeutic testing in the dystroglycanopathies. doi:10.1016/j.nmd.2011.06.835
    • Murphy SM, Davidson GL, Laura M, Salih M, Muntoni F, Lunn M, Blake J, Brandner S, Polke J, Davies M, Houlden H, Reilly MM (2011). Genetic mutation frequency in patients with hereditary sensory and autonomic neuropathies (HSAN).
    • Murphy SM, Davidson GL, Laura M, Salih MAM, Muntoni F, Lunn MP, Blake J, Bull K, Brandner S, Polke J, Davis M, Houlden H, Reilly MM (2011). GENETIC MUTATION FREQUENCY IN PATIENTS WITH HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES (HSAN).
    • Heywood W, Mills KA, Carreno G, Mills PB, Worthington V, Clayton PT, Muntoni F, Grunewald S (2011). IDENTIFICATION OF C1INHIBITOR AS A POTENTIAL BIOMARKER FOR N- AND O-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION (CDG). JOURNAL OF INHERITED METABOLIC DISEASE, 34, S182 - S182.
    • Mayhew A, Cano S, Scott E, Eagle M, Bushby K, Muntoni F, North Star Clinical Network for Paediatric Neuromuscular Disease (2011). Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy.. Dev Med Child Neurol, 53(6), 535 - 542. doi:10.1111/j.1469-8749.2011.03939.x
    • Muntoni F, Torelli S, Wells DJ, Brown SC (2011). Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.. Curr Opin Neurol, 24(5), 437 - 442. doi:10.1097/WCO.0b013e32834a95e3
    • Dlamini N, Voermans NC, Lillis S, Abbs S, Kamsteeg E, Al-Sarraj S, Lammens M, Muntoni F, Quinlivan R, Wraige E, van Engelen B, Jungbluth H (2011). Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis. doi:10.1016/j.nmd.2011.06.1109
    • Quinlivan R, Nishino I, Mitsuahashi S, Ayoyama C, Sewry C, Muntoni F, Cirak S, Robb S, Moore D, Abbs S, Bushby K, Straub V (2011). Myopathy associated with mutations in CHKB in three UK patients. doi:10.1016/j.nmd.2011.06.943
    • Malfatti E, Martinez VG, Von der Hagen M, Chabalier D, Quijano-Roy S, David O, Moghadaszadeh B, Bonne-Mann C, Bushby K, Castiglioni C, Ceuterick C, Chaigne D, Colomer J, Desguerre I, De Visser M, Elcioglu N, Eymard B, Fidzianska A, Goemans N, Jungbluth H, Kaindl A, Labarre-Vila A, Schlotter-Weigel B, Leroy JP, Lochmuller H, Mayer M, Voit T, Martin JJ, Straub V, Stoetter M, Merlini L, Bertini E, Pellegrini N, Quinlivan R, Romero NB, Sewry C, Topaloglu H, Toutain A, Beggs A, Salih M, Urtizberea A, Van der Kooi A, Viollet L, Fardeau M, Muntoni F, Guicheney P, Richard P, Estournet B, Schara U, Ferreiro A (2011). Phenotype, Genetics and Natural History in 146 Patients with SEPN1-Related Myopathy: On the Way to Therapeutic Trials in a Rare Disorder.
    • Anthony K, Morgan JE, Muntoni F (2011). Quantification of exon skipping in Duchenne muscular dystrophy by qRT-PCR.
    • Uusimaa J, Jungbluth H, Fratter C, Bailey EMFV, Crisponi BG, Feng L, Zeviani M, Hughes I, Treacy E, Birks J, Brown GK, Sewry C, Muntoni F, Poulton J (2011). Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease.
    • Joanna P, Jungbluth H, Fatter C, Bailey EMFV, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy E, Birks J, Brown GK, Sewry C, Muntoni F, Uusimaa J (2011). Reversible Infantile Respiratory Chain Deficiency is a Genetically Heterogenous Mitochondrial Disease.
    • Shrewsbury SB, Cirak S, Guglieri M, Bushby K, Muntoni F (2011). Safety, Pharmacokinetic and Exploratory Efficacy of AVI-4658 a Phosphorodiamidate Morpholino Oligomer (PMO) To Skip Exon 51 in Duchenne Muscular Dystrophy Patients.
    • Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Hilton-Jones D, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F (2011). SEPN1 related myopathies: Clinical course in a large cohort of patients.
    • Meng J, Muntoni F, Morgan JE (2011). Stem cells to treat muscular dystrophies - where are we?. Neuromuscul Disord, 21(1), 4 - 12. doi:10.1016/j.nmd.2010.10.004
    • Matthews E, Manzur AY, Sud R, Muntoni F, Hanna MG (2011). Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.. Arch Neurol, 68(1), 127 - 129. doi:10.1001/archneurol.2010.347
    • Muntoni F, Wood MJ (2011). Targeting RNA to treat neuromuscular disease.. Nat Rev Drug Discov, 10(8), 621 - 637. doi:10.1038/nrd3459
    • Kinali M, Arechavala-Gomeza V, Cirak S, Glover A, Guglieri M, Feng L, Hollingsworth KG, Hunt D, Jungbluth H, Roper HP, Quinlivan RM, Gosalakkal JA, Jayawant S, Nadeau A, Hughes-Carre L, Manzur AY, Mercuri E, Morgan JE, Straub V, Bushby K, Sewry C, Rutherford M, Muntoni F (2011). Muscle histology vs MRI in Duchenne muscular dystrophy.. Neurology, 76(4), 346 - 353. doi:10.1212/WNL.0b013e318208811f
    • Ricotti V, Roberts RG, Muntoni F (2011). Dystrophin and the brain.. Dev Med Child Neurol, 53(1), 12 - .
    • Garralda ME, Kinali M, Cirak S, Bushby K, Guglieri M, Straub V, Muntoni F (2011). Emotional impact of a paediatric exon-skipping therapy trial.. Dev Med Child Neurol, 53(12), 1157 - 1159. doi:10.1111/j.1469-8749.2011.04128.x
    • Treves S, Vukcevic M, Jeannet PY, Levano S, Girard T, Urwyler A, Fischer D, Voit T, Jungbluth H, Lillis S, Muntoni F, Quinlivan R, Sarkozy A, Bushby K, Zorzato F (2011). Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.. Hum Mol Genet, 20(3), 589 - 600. doi:10.1093/hmg/ddq506
    • Treves S, Vukcevic M, Jeannet PY, Levano S, Girard T, Urwyler A, Fischer D, Voit T, Jungbluth H, Lillis S, Muntoni F, Quinlivan R, Sarkozy A, Bushby K, Zorzato F (2011). Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease (vol 20, pg 589, 2011). HUM MOL GENET, 20(10), 2079 - 2079. doi:10.1093/hmg/ddr083
    • Godfrey C, Clement E, Abbs S, Muntoni F (2011). EXCLUSION OF WWP1 MUTATIONS IN A COHORT OF DYSTROGLYCANOPATHY PATIENTS. MUSCLE NERVE, 44(3), 388 - 392. doi:10.1002/mus.22068
    • Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Garralda ME, Wells D, Dickson G, Wood MJA, Wilton SD, Straub V, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F (2011). Exon skipping and dystrophin restoration in Duchenne muscular dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment.
    • Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F (2011). Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.. Lancet, 378(9791), 595 - 605. doi:10.1016/S0140-6736(11)60756-3
    • Ackroyd MR, Whitmore C, Prior S, Kaluarachchi M, Nikolic M, Mayer U, Muntoni F, Brown SC (2011). Fukutin-related protein alters the deposition of laminin in the eye and brain.. J Neurosci, 31(36), 12927 - 12935. doi:10.1523/JNEUROSCI.2301-11.2011
    • Asfahani R, Meng J, Muntoni F, Morgan JE (2011). Human skeletal-muscle derived CD133+cells as a promising tool for cell therapy of Duchenne muscular dystrophy.
    • Zaharieva I, Cirak S, Morgan JE, Muntoni F (2011). Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy.
    • Reza M, Laval S, Morgan JE, Muntoni F, Bushby K, Straub V, Lochmuller H (2011). Optimal dystrophin mini-construct for gene delivery to skeletal muscle.
    • Mamchaoui K, Trollet C, Bigot A, Negroni E, Chaouch S, Wolff A, Kandalla PK, Marie S, Di Santo J, St Guily JL, Muntoni F, Kim J, Philippi S, Spuler S, Levy N, Blumen SC, Voit T, Wright WE, Aamiri A, Butler-Browne G, Mouly V (2011). Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders.. Skelet Muscle, 1, 34 - . doi:10.1186/2044-5040-1-34
    • Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J, Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, Jungbluth H, Pitt MC, Muntoni F (2011). Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.. Neuromuscul Disord, 21(6), 379 - 386. doi:10.1016/j.nmd.2011.02.012
    • Dowling JJ, Lillis S, Amburgey K, Zhou HY, Al-Sarraj S, Buk SJA, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, Jungbluth H (2011). King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. NEUROMUSCULAR DISORD, 21(6), 420 - 427. doi:10.1016/j.nmd.2011.03.006
    • Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F (2011). SEPN1-related myopathies: clinical course in a large cohort of patients.. Neurology, 76(24), 2073 - 2078. doi:10.1212/WNL.0b013e31821f467c
    • Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F (2011). Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.. Arch Neurol, 68(9), 1171 - 1179. doi:10.1001/archneurol.2011.188
    • Tosetti M, Linsalata S, Battini R, Volpi L, Cini C, Presciutti O, Muntoni F, Cioni G, Siciliano G (2011). Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy.. Muscle Nerve, 44(5), 816 - 819. doi:10.1002/mus.22181
    • Feng LH, Scoto M, Phadke R, Lillis S, Cullup T, Mein R, Abbs S, Muntoni F, Sewry CA (2011). Muscle pathology in a large cohort of cases with SEPN1 mutations. doi:10.1016/j.nmd.2011.06.939
    • Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA (2011). Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).. Nat Genet, 43(12), 1189 - 1192. doi:10.1038/ng.995
    • Ackroyd MR, Whitmore C, Nikolic M, Mayer U, Muntoni F, Brown SC (2011). Novel insight in muscle and brain involvement in dystroglycanopathies.
    • Feng LH, Phadke R, Lillis S, Cullup T, Chambers D, Abbs S, Muntoni F, Sewry C (2011). Pathological features resembling congenital fibre type disproportion linked to a number of different genetic defects.
    • Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J (2011). Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.. J Med Genet, 48(10), 660 - 668. doi:10.1136/jmg.2011.089995
    • Read J, Kinali M, Muntoni F, Weaver T, Garralda ME (2011). Siblings of young people with Duchenne muscular dystrophy--a qualitative study of impact and coping.. Eur J Paediatr Neurol, 15(1), 21 - 28. doi:10.1016/j.ejpn.2010.07.006
    • Boldrin L, Zammit PS, Muntoni F, Morgan JE (2011). The host muscle environment has got a profound effect on satellite cell function.
    • Foley AR, Quijano-Roy S, Collins J, Straub V, Deconinck N, Mercuri E, D'Amico A, Bertini E, Ryan M, Muntoni F, Bonnemann C (2011). The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials.
    • Foley AR, Quijano-Roy S, Collins J, Straub V, Deconinck N, Mercuri E, D'Amico A, Bertini E, North K, Ryan M, Rummey C, Meier T, Cole T, Muntoni F, Bonnemann C (2011). The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials. doi:10.1016/j.nmd.2011.06.828
    • Feng L, Phadke R, Jungbluth H, Lillis S, Cullup T, Chambers D, Abbs S, Muntoni F, Sewry C (2011). The spectrum of genetic defects responsible for congenital fibre type disproportion.
    • Bönnemann CG, Rutkowski A, Mercuri E, Muntoni F, CMD Outcomes Consortium (2011). 173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands.. Neuromuscul Disord, 21(7), 513 - 522. doi:10.1016/j.nmd.2011.04.004
    • Whitmore C, Ackroyd MR, Muses S, Ashraf A, Muntoni F, Brown SC, Wells DJ (2011). Assessing the therapeutic potential of LARGE in a new mouse model of dystroglycanopathy. doi:10.1016/j.nmd.2011.06.838
    • Jonuschies J, Boldrin L, Thrasher A, Morgan JE, Muntoni F (2011). Assessment of potential promoters for lentiviral gene therapy in DMD. HUM GENE THER, 22(10), A5 - A5.
    • Jonuschies J, Boldrin L, Thrasher A, Morgan JE, Muntoni F (2011). Assessment of potential promoters for lentiviral gene therapy in DMD. HUM GENE THER, 22(10), A62 - A63.
    • Ricotti V, Manzur AY, Scott E, Muntoni F, NorthStar Clinical Network (2011). Benefits and adverse effects of glucocorticoids in boys with Duchenne muscular dystrophy: a UK perspective.
    • Straub V, Aartsma-Rus A, Szigyarto CAK, Beroud C, Bonaldo P, Borgiani P, Braghetta P, Chaouch A, Cirak S, Courtot L, Daraselia N, Gelfi C, 't Hoen PAC, Kotelnikova E, Le Priol Y, Lochmueller H, Morgan J, Muntoni F, Novelli G, Paolillo N, Tanzi R, Turner C, Uhlen M, Ferlini A (2011). BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) - An EU funded FP7 project. doi:10.1016/j.nmd.2011.06.812
    • Pitceathly RDS, He J, Foley AR, Muntoni F, Pearson N, Hanna MG (2011). Whole genome analysis in a family with dominant muscle disease.
    • Fernandez-Fuente M, Terracciano CM, Pilsworth R, Muntoni F, Brown SC, Piercy RJ (2011). Characterisation of sarcoplasmic reticulum calcium release in equine and human myotubes derived from MyoD-transformed fibroblasts. doi:10.1016/j.nmd.2011.06.938
    • Malerba A, Sharp PS, Graham IR, Arechavala-Gomeza V, Foster K, Muntoni F, Wells DJ, Dickson G (2011). Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice.. Mol Ther, 19(2), 345 - 354. doi:10.1038/mt.2010.261
    • Cirak S, Olmez A, Karasoy H, Bakouche B, Heise M, Muntoni F, Winkler J, Topaloglu H, Uyanik G (2011). Clinical phenotype and novel mutations in Alsin related motorneuron disease.
    • Shrewsbury SB, Sazani P, Muntoni F (2011). Comparative pharmacokinetics (PK) in primates and humans of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO) for treating DMD patients. doi:10.1016/j.nmd.2011.06.770
    • Maggi L, Scoto M, Cirak S, Feng L, Lillis S, Cullup T, Robb S, Manzur A, Sewry CA, Abbs S, Jungbluth H, Muntoni F (2011). Congenital myopathies - clinical features and frequency of individual subtypes diagnosed in a five-year period: the UK experience. doi:10.1016/j.nmd.2011.06.925
    • Meng J, Adkin CF, Xu SW, Muntoni F, Morgan JE (2011). Contribution of human muscle-derived cells to skeletal muscle regeneration in dystrophic host mice.. PLoS One, 6(3), e17454 - . doi:10.1371/journal.pone.0017454

    2010

    • Meng J, Beley C, Adkin C, Muntoni F, Garcia L, Morgan JE (2010). Dystrophin expression in DMD pericytes after infection with U7 lentivirus designed to skip dystrophin exon 51.
    • Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R, International Standard of Care Committee for Congenital Muscular Dystrophy (2010). Consensus statement on standard of care for congenital muscular dystrophies.. J Child Neurol, 25(12), 1559 - 1581. doi:10.1177/0883073810381924
    • Arechavala-Gomeza V, Kinali M, Feng L, Brown SC, Sewry C, Morgan JE, Muntoni F (2010). Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression.. Neuropathol Appl Neurobiol, 36(4), 265 - 274. doi:10.1111/j.1365-2990.2009.01056.x
    • Cirak S, Feng L, Torelli S, Arechavala-Gomeza V, Kinali M, Shrewsbury S, Morgan JE, Sewry C, Muntoni F (2010). Induction of dystrophin in DMD patients by antisense oligonucleotide AVI-4658 restores the dystrophin glycoprotein complex. doi:10.1016/j.nmd.2010.07.150
    • Johnson D, Reza M, Morgan JE, Barresi R, Lochmuller H, Muntoni F (2010). MRC NMD Biobank service: an overview.
    • Muntoni F, Bushby K, Sebahattin C, Guglieri M, Leow S, Shrewsbury SB (2010). Preliminary Results with AVI-4658 of Dystrophin Expression, Safety and Pharmacokinetics from the First Systemic Administration Study in Boys with Duchene Muscular Dystrophy (DMD), with a Phosphorodiamidate Morpholino Oligomer (PMO) to Skip Exon 51.
    • Robb SA, Muntoni F, Simonds AK (2010). Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK.. Neuromuscul Disord, 20(12), 833 - 838. doi:10.1016/j.nmd.2010.08.002
    • Arechavala-Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, Hunt D, Lehovsky J, Straub V, Bushby K, Sewry CA, Morgan JE, Muntoni F (2010). Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials.. Neuromuscul Disord, 20(5), 295 - 301. doi:10.1016/j.nmd.2010.03.007
    • Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H (2010). RYR1 mutations are a common cause of congenital myopathies with central nuclei.. Ann Neurol, 68(5), 717 - 726. doi:10.1002/ana.22119
    • Read J, Simonds A, Kinali M, Muntoni F, Garralda ME (2010). Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carers.. Neuromuscul Disord, 20(7), 458 - 463. doi:10.1016/j.nmd.2010.05.011
    • Babcock MA, Kostova FV, Moxley RT, Chamberlain JS, Maria BL, Muntoni F, Wagner K, Mathews KD, Bushby K, Moxley RT, Sussman MD, Pandya S, Birnkrant DJ, Chamberlain JS, Partridge T, Finkel RS, Leshner R, Mendell JR (2010). Muscular Dystrophy: New Opportunities for Diagnosis and Treatment. J CHILD NEUROL, 25(9), 1080 - 1097. doi:10.1177/0883073810371000
    • Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa CD, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F (2010). Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.. Neuromuscul Disord, 20(4), 241 - 250. doi:10.1016/j.nmd.2010.02.001
    • Cirak S, Feng L, Arechavala V, Torelli S, Ganeshaguru K, Kinali M, Shrewsbury S, Morgan JE, Sewry C, Muntoni F (2010). Induction of dystrophin in Duchenne muscular dystrophy patients by antisense oligonucleotide AVI-4658 restores the dystrophin-associated glycoprotein complex.
    • Jonuschies J, Boldrin L, Muntoni F, Morgan JE (2010). Lentivirus-mediated stem cell therapy for Duchenne muscular dystrophy.
    • Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H (2010). Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.. Neuromuscul Disord, 20(3), 166 - 173. doi:10.1016/j.nmd.2009.12.005
    • Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F (2010). Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.. Ann Neurol, 67(2), 201 - 208. doi:10.1002/ana.21846
    • Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K (2010). Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.. J Clin Invest, 120(12), 4220 - 4235. doi:10.1172/JCI43653
    • Acsadi G, Shy R, Dias A, Estilow T, Muntoni F, Reilly M, Shy M, Finkel R, Burns J (2010). Pediatric Neuropathy Scale (CMTPed) for Charcot-Marie-Tooth Disease (CMT).
    • Forrest S, Meloni PL, Muntoni F, Kim J, Fletcher S, Wilton SD (2010). Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations.. Neuromuscul Disord, 20(12), 810 - 816. doi:10.1016/j.nmd.2010.07.276
    • Read J, Kinali M, Muntoni F, Garralda ME (2010). Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy.. Eur J Paediatr Neurol, 14(4), 340 - 348. doi:10.1016/j.ejpn.2009.09.011
    • Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN (2010). Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.. Hum Mutat, 31(7), E1544 - E1550. doi:10.1002/humu.21278
    • Muntoni F, Cirak SS, Guglieri M, Arechavala V, Morgan JE, Feng L, Torelli S, Bhardwaj N, Sewry CA, Straub V, Shrewsbury S, Bushby K (2010). Results of a systemic antisense study in Duchenne muscular dystrophy.
    • McCauley J, Storey H, Ashton E, Muntoni F, Yau S, Abbs S (2010). Sequencing the DMD gene - review of results from 300+ cases.
    • Meng J, Adkin CF, Arechavala-Gomeza V, Boldrin L, Muntoni F, Morgan JE (2010). The contribution of human synovial stem cells to skeletal muscle regeneration.. Neuromuscul Disord, 20(1), 6 - 15. doi:10.1016/j.nmd.2009.11.007
    • Muntoni F, Meeting Steering Committee and TREAT-NMD Network (2010). The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009.. Neuromuscul Disord, 20(5), 355 - 362. doi:10.1016/j.nmd.2010.03.005
    • Brockington M, Torelli S, Sharp PS, Liu K, Cirak S, Brown SC, Wells DJ, Muntoni F (2010). Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle.. PLoS One, 5(12), e14434 - . doi:10.1371/journal.pone.0014434
    • Reilly MM, Shy ME, Muntoni F, Pareyson D (2010). 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT).. Neuromuscul Disord, 20(12), 839 - 846. doi:10.1016/j.nmd.2010.08.001
    • Manzur AY, Scott E, Munot P, Vijaykumar K, Muntoni F, UK NorthStar Clinical Network (2010). UK North Star Neuromuscular Clinical Network (NSCN): National audit results in Duchenne muscular dystrophy (DMD) corticosteroid practice, vitamin D status and bone health.
    • Munteanu I, Yasukawa T, Duchen MR, Muntoni F (2010). Uncovering the role of mitochondria in the pathogenesis of core myopathies.
    • Jungbluth H, Cullup T, Lillis S, Zhou H, Abbs S, Sewry C, Muntoni F (2010). Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.. Neuromuscul Disord, 20(1), 49 - 52. doi:10.1016/j.nmd.2009.10.005
    • Malerba A, Sharp P, Graham I, Arechavala V, Foster K, Morgan JE, Muntoni F, Wells D, Dickson G (2010). Chronic long term administration of phosphorodiamidate morpholino oligomer profoundly ameliorates activity, muscle strength and phenotype in dystrophic mdx mice.
    • Malerba A, Sharp P, Graham IR, Arechavala-Gomeza V, Foster K, Morgan JE, Muntoni F, Wells D, Dickson G (2010). Clinically Applicable Dosing Regimens of Phosphorodiamidate Morpholino Oligomer Profoundly Improve Behaviour, Activity, and Dystrophic phenotype in mdx mice.
    • Popplewell LJ, Adkin C, Arechavala-Gomeza V, Aartsma-Rus A, de Winter CL, Wilton SD, Morgan JE, Muntoni F, Graham IR, Dickson G (2010). Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials.. Neuromuscul Disord, 20(2), 102 - 110. doi:10.1016/j.nmd.2009.10.013
    • Shrewsbury SB, Cirak S, Guglieri M, Bushby K, Muntoni F (2010). Current progress and preliminary results with the systemic administration trial of AVI-4658, a novel phosphorodiamidate morpholino oligomer (PMO) skipping dystrophin exon 51 in Duchenne muscular dystrophy (DMD). doi:10.1016/j.nmd.2010.07.140
    • Cirak S, Guglieri M, Shrewsbury S, Bushby K, Muntoni F (2010). Current progress with the systemic administration trial of AVI-4658, a novel Phosphorodiamidate Morpholino Oligomer (PMO) skipping dystrophin exon 51 in Duchenne muscular dystrophy (DMD).
    • Sewry CA, Holton JH, Dick DJ, Jacques TS, Muntoni F, Hanna MG (2010). Zebra body myopathy resolved.
    • Yau S, Cirak S, Castleman V, Abbs S, Muntoni F (2010). Development of NMD Gene Chips for the complete DNA diagnosis of Inherited Neuromuscular Disorders.
    • Kim J, Arechavala V, Muntoni F (2010). The characterisation of out of frame duplications in DMD patients.
    • Choudhury R, Barreto G, Ganeshaguru K, Cirax S, Scoto M, Muntoni F, Guglieri M, Straub V, Bell G, Speed C, Bourke J, Bushby K, Quinlivan R, Jones R, Hunt A (2010). Translation related clinical trials in duchenne muscular dystrophy (DMD) in the UK.
    • Walmsley GL, Arechavala-Gomeza V, Fernandez-Fuente M, Burke MM, Nagel N, Holder A, Stanley R, Chandler K, Marks SL, Muntoni F, Shelton GD, Piercy RJ (2010). A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.. PLoS One, 5(1), e8647 - . doi:10.1371/journal.pone.0008647
    • Burns J, Shy R, Estilow T, Acsadi G, Glanzman A, Ouvrier R, Muntoni F, Reilly M, Shy M, Finkel R (2010). Development and Validation of the Charcot-Marie-Tooth Disease Pediatric (CMTPed) Scale.
    • Zhou H, Owen N, Muntoni F, Eperon IC (2010). Antisense approaches in SMA.
    • Boldrin L, Muntoni F, Morgan JE (2010). Are human and mouse satellite cells really the same?. J Histochem Cytochem, 58(11), 941 - 955. doi:10.1369/jhc.2010.956201
    • Boldrin L, Muntoni F, Morgan JE (2010). Are Human and Mouse Satellite Cells Really the Same?. HEALTH TECHNOL ASSES, 14(42), 941 - 955. doi:10.1369/jhc.2010.956201
    • Jephson CG, Mills NA, Pitt MC, Beeson D, Aloysius A, Muntoni F, Robb SA, Bailey CM (2010). Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.. Int J Pediatr Otorhinolaryngol, 74(9), 991 - 994. doi:10.1016/j.ijporl.2010.05.022
    • Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F (2010). Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.. Neuromuscul Disord, 20(12), 796 - 800. doi:10.1016/j.nmd.2010.07.274
    • Garralda EM, Kinali M, Cirak S, Muntoni F (2010). Exploring emotional impact in a proof-of-principle single-blind, controlled, two-doses escalation intramuscular study of a morpholino splice-switching oligonucleotide (AVI-4658) trial to induce dystrophin restoration in children with Duchenne muscular dystrophy.

    2009

    • Brockington M, Torelli S, Godfrey C, Muntoni F (2009). Expression analysis of alpha-dystroglycan glycosyltransferases during myoblast-myotube differentiation. doi:10.1016/j.nmd.2009.06.030
    • Manzur AY, Muntoni F (2009). Diagnosis and new treatments in muscular dystrophies. Journal of Neurology, Neurosurgery and Psychiatry, 80(7), 706 - 714.
    • Arechavala-Gomeza V, Feng L, Malerba A, Graham IR, Brown SC, Sewry C, Morgan J, Muntoni F (2009). Measuring restored dystrophin in treated muscle: An immunohistological intensity measurement method. doi:10.1016/j.nmd.2009.06.224
    • Muntoni F (2009). Muscular dystrophy: diagnosis and management.
    • McSweeney N, Cowan F, Manzur A, Robb S, Muntoni F (2009). Perinatal dyskinesia as a presenting feature in Prader Willi Syndrome. European Journal of Paediatric Neurology, 13(4), 350 - 355.
    • Ackroyd MR, Skordis L, Kaluarachchi M, Godwin J, Prior S, Fidanboylu M, Piercy RJ, Muntoni F, Brown SC (2009). Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. Brain, 132, 439 - 451.
    • Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, Guglieri M, Abbs S, Nihoyannopoulos P, Garralda ME, Rutherford M, McCulley C, Popplewell L, Graham IR, Dickson G, Wood MJA, Wells DJ, Wilton SD, Holt T, Kole R, Straub V, Bushby K, Sewry C, Morgan JE, Muntoni F (2009). Restoration of dystrophin expression in Duchenne muscular dystrophy: A single blind, placebo-controlled dose escalation study using morpholino oligomer AVI-4658. doi:10.1016/j.nmd.2009.06.358
    • Mercuri E, Manzur A, Main M, Alsopp J, Muntoni F (2009). Is there post-natal muscle growth in amyoplasia? A sequential MRI study. Neuromuscul Disord, , - .
    • Dowling JJ, Leber S, Lillis S, Zhou H, Ai-Sarraj S, Wraige E, Abbs S, Sewry C, Muntoni F, Jungbluth H (2009). King-Denborough Syndrome Associated with Mutations in the Skeletal Muscle Ryanodine Receptor (RYR1) Gene.
    • Robb SA, Sewry CA, Manzur AY, Knight RK, Mills KR, Pike M, Muller C, Lees MM, Cullup T, Jungbluth H, Pitt MC, Muntoni F (2009). Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathy. Neuromuscular Disorders, 19(8-9), 600 - 600.
    • Dowling J, Lillis S, Amburgey K, Leber S, Zhou H, Al-Sarraj S, Wraige E, Abbs S, Sewry C, Muntoni F, Jungbluth H (2009). King-Denborough syndrome associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. NEUROMUSCULAR DISORDERS, 19(8-9), 556 - 557. doi:10.1016/j.nmd.2009.06.045
    • Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, Muntoni F (2009). Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscular Disorders, 19(5), 344 - 347.
    • Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, Guglieri M, Ashton E, Abbs S, Nihoyannopoulos P, Garralda ME, Rutherford M, McCulley C, Popplewell L, Graham IR, Dickson G, Wood MJ, Wells DJ, Wilton SD, Kole R, Straub V, Bushby K, Sewry C, Morgan JE, Muntoni F (2009). Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol., 8(10), 918 - 928.
    • Boldrin L, Zammit PS, Muntoni F, Morgan JE (2009). Mature Adult Dystrophic Mouse Muscle Environment Does Not Impede Efficient Engrafted Satellite Cell Regeneration and Self-Renewal. Stem Cells, 27(10), 2478 - 2487.
    • Muntoni F (2009). Molecular therapies of Duchenne muscular dystrophy. doi:10.1016/j.nmd.2009.06.353
    • Astrea G, Schessl J, Clement E, Tosetti M, Mercuri E, Rutherford M, Cioni G, Bönnemann CG, Muntoni F, Battini R (2009). Muscle MRI in FHL1-linked reducing body myopathy.. Neuromuscul Disord, 19(10), 689 - 691. doi:10.1016/j.nmd.2009.06.372
    • Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG (2009). Mutation in BAG3 causes severe dominant childhood muscular dystrophy.. Ann Neurol, 65(1), 83 - 89. doi:10.1002/ana.21553
    • Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F (2009). Natural history of Ullrich congenital muscular dystrophy. Neurology, 73(1), 25 - 31.
    • Arbogast S, Zhou H, Muntoni F, Ferreiro A (2009). Oxidative stress in SEPN1-related myopathy: A new therapeutical target.
    • Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A (2009). Oxidative Stress in SEPN1-Related Myopathy: From Pathophysiology to Treatment. Annals of Neurology, 65(6), 677 - 686.
    • Mitrpant C, Adams AM, Meloni PL, Muntoni F, Fletcher S, Wilton SD (2009). Rational design of antisense oligomers to induce dystrophin exon skipping.. Mol Ther, 17(8), 1418 - 1426. doi:10.1038/mt.2009.49
    • Hicks D, Lampe A, Laval S, Allamand V, Jimenez-Mallebrera C, Walter M, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmuller H, Bushby K (2009). Response to letter from Bernardi.
    • Mercuri E, Clement E, Offiah A, Pichiecchio A, Alsopp J, Vasco G, Bianco F, Manzur A, Messina S, Ricci E, Rutherford M, Muntoni F (2009). Specificity and sensitivity of patterns of muscle MRI involvement in muscular dystrophies with rigidity of the spine. Neuromuscular Disorders, 19(8-9), 627 - 628.
    • Meng J, Adkin CF, rechavala-Gomeza V, Boldrin L, Muntoni F, Morgan JE (2009). The contribution of human synovial stem cells to skeletal. Neuromuscul Disord, , - .
    • Boldrin L, Zammit P, Muntoni F, Morgan J (2009). The Mature Adult Dystrophic Mouse Muscle Environment Does Not Impede Efficient Engrafted Satellite Cell Regeneration And Self-Renewal. Stem Cells, , - .
    • Feng LH, Bhardwaj N, Muntoni F, Sewry CA (2009). The value of immunolabelling of myosin heavy chains in the assessment of muscle biopsies. Neuromuscular Disorders, 19(8-9), 604 - 604.
    • Muntoni F, Guicheney P, Voit T (2009). 158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands.. Neuromuscul Disord, 19(3), 229 - 234. doi:10.1016/j.nmd.2008.11.008
    • Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kroger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F (2009). A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.. Brain Pathol, 19(4), 596 - 611.
    • Godfrey C, Clement E, Torelli S, Brockington M, Abbs S, Muntoni F (2009). An investigation of candidate genes in dystroglycanopathy patients. doi:10.1016/j.nmd.2009.06.032
    • Zhou H, Owen N, Eperon IC, Muntoni F (2009). Correcting SMN2 splicing with tailed antisense oligoribonucleotides: a promising therapeutic strategy for spinal muscular atrophy. doi:10.1016/j.nmd.2009.06.112
    • Ackroyd MR, Prior S, Whitmore C, Kaluarachchi M, Muntoni F, Brown SC (2009). Deficiency of multiple alpha dystroglycan ligand interactions underlie the phenotype of a FKRP-deficient mouse model for muscle eye brain disease. doi:10.1016/j.nmd.2009.06.039
    • Manzur AY, Muntoni F (2009). Diagnosis and new treatments in muscular dystrophies. Postgrad Med J, 85(1009), 622 - 630.
    • Feng L, Jungbluth H, Jimenez-Mallebrera C, Zhou H, Brown SC, Quinlivan R, Muntoni F, Sewry CA (2009). The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor 1 (RYR1) gene.
    • Mayhew AG, Scott E, Muntoni F, Manzur A (2009). The Smartnet Clinical Network - Creation of a national standardised assessment tool and natural history database for spinal muscular atrophy. doi:10.1016/j.nmd.2009.06.018
    • Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kroger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F (2009). A comparative study of alpha-dystroglycan glycosylation in. Brain Pathol, 19(4), 596 - 611.
    • Ghassemi F, Vukcevic M, Xu L, Zhou HY, Meissner G, Muntoni F, Jungbluth H, Zorzato F, Treves S (2009). A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium, 45(2), 192 - 197.
    • Wilmshurst J, Lillis S, Zhou H, Kress W, Solomon R, Ndondo A, Greenberg J, Sinclair-Smith CC, Bertini E, Boennemann C, Straub V, Quinlivan R, Sewry CA, Wraige E, Abbs S, Muntoni F, Jungbluth H (2009). An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene. doi:10.1016/j.nmd.2009.06.046
    • Jungbluth H, Cullup T, Lillis S, Zhou H, Sewry C, Abbs S, Muntoni F (2009). Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene. doi:10.1016/j.nmd.2009.06.287
    • Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou YQ, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bonnemann CG (2009). Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain, 132, 452 - 464.
    • Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM (2009). Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.. Brain, 132(Pt 1), 147 - 155. doi:10.1093/brain/awn289
    • Sewry CA, Holton J, Dick DJ, Jacques T, Muntoni F, Hanna M (2009). Zebra body myopathy resolved. doi:10.1016/j.nmd.2009.06.292
    • rechavala-Gomeza V, Kinali M, Feng L, Brown SC, Sewry C, Morgan JE, Muntoni F (2009). Immunohistological intensity measurements as a tool to assess. Neuropathol Appl Neurobiol, , - .

    2008

    • Steffensen BF, Mayhew A, Aloysius A, Eagle M, Mercuri E, Messina S, Mazzone E, Nadeau A, Main M, Scott E, Werlauff U, Werge B, Glanzmann AM, Muntoni F (2008). Egen classification revisited in SMA. doi:10.1016/j.nmd.2008.06.059
    • Quijano-Roy S, Mbieleu B, Bonnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De ML, D'Amico A, Ben YR, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B (2008). De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol, 64(2), 177 - 186.
    • Bovolenta M, Fini S, Neri M, Fabris M, Martoni E, Bassi E, Spitali P, Falzarano S, Trabanelli C, Venturoli A, Ashton E, Abbs S, Muntoni F, Rimessi P, Gualandi F, Ferlini A (2008). High Density-comparative genomic hybridization (HD-CGH) array as a tool to detect deep intronic mutations in the dystrophin gene. doi:10.1016/j.nmd.2008.06.184
    • Brockington M, Torelli S, Cirak S, Brown SC, Wells DJ, Muntoni F (2008). LARGE overexpression in transgenic mice: Implications for therapeutic interventions in muscular dystrophy. doi:10.1016/j.nmd.2008.06.048
    • Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F (2008). Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol, 65(1), 137 - 141.
    • Muntoni F, Torelli S, Brockington M (2008). Muscular dystrophies due to glycosylation defects. Neurotherapeutics, 5(4), 627 - 632.
    • Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Taratuto AL, Muntoni F, Flanigan KM, Mitchell CA, Bonnemann CG (2008). Proteomic identification of the LIM domain protein FHL1 as the geneproduct mutated in reducing body myopathy. doi:10.1016/j.nmd.2008.06.012
    • Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bonnemann CG (2008). Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat, 29(6), 809 - 822.
    • Brown SC, Piercy RJ, Muntoni F, Sewry CA (2008). Investigating the pathology of Emery-Dreifuss muscular dystrophy.. Biochem Soc Trans, 36(Pt 6), 1335 - 1338. doi:10.1042/BST0361335
    • Jungbluth H, Lillis S, Zhou H, Abbs S, Swash M, Muntoni F (2008). Late-onset axial myopathy with cores due to a novel dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. doi:10.1016/j.nmd.2008.06.292
    • Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Engel AG (2008). Mutation in BAG3 defines severe novel muscular dystrophy of childhood.
    • Nicholson C, Main M, Kinali M, Muntoni F, Mercuri E (2008). Predictive factors for progressive foot deformity in non-ambulant boys with Duchenne muscular dystrophy. doi:10.1016/j.nmd.2008.06.284
    • Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bonnemann CG (2008). Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest, 118(3), 904 - 912.
    • Nadeau A, Muntoni F (2008). Skin changes in Ullrich congenital muscular dystrophy. Neuromuscul Disord, 18(12), 982 - .
    • Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter M, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmuller H, Bushby KMD (2008). Testing therapies in neuromuscular disease: Oral presentations. doi:10.1016/j.nmd.2008.06.376
    • Muntoni F, Bushby KD, van OG (2008). 149th ENMC International Workshop and 1st TREAT-NMD Workshop on: "planning phase i/ii clinical trials using systemically delivered antisense oligonucleotides in duchenne muscular dystrophy". Neuromuscul Disord, 18(3), 268 - 275.
    • Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kroger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F (2008). A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity. Brain Pathol, , - .
    • Adkin C, Meng J, Arechevala-Gomeza V, Morgan J, Muntoni F (2008). A model of human muscle regeneration in vivo to test potential therapies for DMD. doi:10.1016/j.nmd.2008.06.123
    • Budde BS, Namavar Y, Barth PG, Poll-The BT N, G B, C V, Ruissen F W, M A F, K TB, E T A, E VDK, M S H, W T, M R C, Y J S, M V, T R, F B, W B, K K, M B, E H, G W, M B-V, L K-M, I DV, L S S, L M, F F, C D B, R H, R C G, E B, F A S, L M W, B N, P B, F (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet, 40(9), 1113 - 1118.
    • Otto A, Schmidt C, Luke G, Allen S, Valasek P, Muntoni F, Lawrence-Watt D, Patel K (2008). Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration. J Cell Sci, 121(Pt 17), 2939 - 2950.
    • Ackroyd MR, Skordis L, Kaluarachchi M, Prior S, Muntoni F, Brown SC (2008). Characterisation of the brain and eye phenotype of a FKRP knock-down mouse model of Muscle-Eye-Brain disease. doi:10.1016/j.nmd.2008.06.050
    • Sewry CA, Jimenez-Mallebrera C, Muntoni F (2008). Congenital myopathies. Current Opinion in Neurology, 21(5), 569 - 575.
    • Pane M, Staccioll S, Messina S, D 'Arnico A, Pelliccioni M, Mazzone ES, Cuttini M, Alfieri P, Battinif R, Main M, Muntoni F, Bertini E, Villanova M, Mercuri E (2008). Daily salbutamol in young patients with SMA type II. Neuromuscular Disorders, 18(7), 536 - 540.
    • Pane MP, Staccioli SS, Messina SM, d'Amico AD, Pelliccioni MP, Mazzone EM, Cuttini MC, Alfieri PA, Battini RB, Main MM, Muntoni FM, Bertini EB, Villanova MV, Mercuri EM (2008). Daily salbutamol in young patients with SMA type II. doi:10.1016/j.nmd.2008.06.133
    • Klein A, Clement E, Mercuri E, Muntoni F (2008). Differential diagnosis of congenital muscular dystrophies. Eur J Paediatr Neurol, 12(5), 371 - 377.
    • Cullup T, Pagan J, Mein R, Lillis S, Jimenez-Mallebrera C, Feng L, Sewry C, Jungbluth H, Muntoni F, Abbs S (2008). The National Molecular Genetics service for Congenital Muscular Dystrophies and Myopathies.
    • Mercuri E, Mayhew A, Muntoni F, Messina S, Straub V, Van Ommen GJ, Voit T, Bertini E, Bushby K, TREAT-NMD Neuromuscular Network (2008). Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France.. Neuromuscul Disord, 18(11), 894 - 903. doi:10.1016/j.nmd.2008.07.003
    • Jungbluth H, Muntoni F, Ferreiro A (2008). 150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands. Neuromuscul Disord, 18(12), 989 - 996.
    • Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A (2008). A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics, 9, 572 - .
    • Fernandez-Fuente M, Ames EG, Wagner ML, Zhou H, Strom M, Zammit PS, Mickelson JR, Muntoni F, Brown SC, Piercy RJ (2008). Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1. Am J Vet.Res, 69(12), 1637 - 1645.
    • Ambegaonkar GP, Kinali M, Muntoni F, Robb SA, Manzur AY (2008). Vertebral fractures in corticosteroid-treated boys with Duchenne muscular dystrophy. doi:10.1016/j.nmd.2008.06.349
    • Manzur AY, Kinali M, Muntoni F (2008). Update on the management of Duchenne muscular dystrophy. Arch Dis Child, 93(11), 986 - 990.
    • Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F (2008). Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann.Neurol., 64(5), 573 - 582. doi:10.1002/ana.21482
    • Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, North B, Clement E, Manzur AY, Robb SA, Muntoni F (2008). Collagen VI, laminopathies and neuropathies: Poster presentations. doi:10.1016/j.nmd.2008.06.027
    • Treves S, Jungbluth H, Muntoni F, Zorzato F (2008). Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol, 8(3), 319 - 326.
    • Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA (2008). Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol, 201-202, 6 - 12.
    • Marchesi C, Main M, Kinali M, Muntoni F (2008). Correlation of hand-held myometry with alternative methods of assessment of muscle strength and function in DMD patients. doi:10.1016/j.nmd.2008.06.061
    • Kinali M, Arechavala-Omeza V, Feng L, Glover A, Guglieri M, Jungbluth H, Roper H, Quinlivan RM, Hunt D, Marizur AM, Henderson A, Gosalakkal J, Hollingsworth K, Allsop J, Mercuri E, Morgan J, Sewry C, Straub V, Bushby K, Rutherford M, Muntoni F (2008). Establishing the parameters for clinical trials of antisense oligonucleotide therapy in Duchenne muscular dystrophy. doi:10.1016/j.nmd.2008.06.171

    2007

    • Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, Spitali P, Rimessi P, Gualandi F, Sewry C, Ferlini A, Muntoni F (2007). Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.. Neuromuscul Disord, 17(11-12), 913 - 918. doi:10.1016/j.nmd.2007.07.005
    • Muntoni F, Wells D (2007). Genetic treatments in muscular dystrophies.. Curr Opin Neurol, 20(5), 590 - 594. doi:10.1097/WCO.0b013e3282efc157
    • Neri M, Torelli S, Brown S, Sewry C, Sabatelli P, Merlini L, Spitali P, Gualandi F, Calzolari E, Ferlini A, Muntoni F (2007). How much dystrophin to avoid muscular dystrophy?. doi:10.1016/j.nmd.2007.06.265
    • Quijano-Roy S, Mbieleu B, Bonnemann C, Colomer J, Clarke N, Cuisset J, Roper H, De Meirleir L, D'Arnico A, Ben Yaou R, Barois A, Demay L, Romero N, Sewry C, Bertini E, Ferreiro A, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B (2007). LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD). doi:10.1016/j.nmd.2007.06.125
    • Popplewell L, Arechavala-Gomeza V, Van Deutekom J, Muntoni F, Dickson G, Graham I (2007). Oligonucleotide-induced exon skipping of the human dystrophin gene.
    • Muntoni F (2007). Prospects for the treatment of Duchenne muscular dystrophy.
    • Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Bruno C, Biancheri R, Berardinelli A, Toscano A, Morandi L, Moroni I, Farina L, Uggetti C, Pichiecchio , Scuderi C, Ruggieri A, Muntoni F, Santorelli F, Bertini E, Mercuri E (2007). Expanding the clinical spectrum of POMT1 and POMT2 phenotype: A multicentric study in the Italian population. doi:10.1016/j.nmd.2007.06.362
    • Zorzato F, Jungbluth H, Zhou H, Muntoni F, Treves S (2007). Functional effects of mutations identified in patients with multiminicore disease. IUBMB.Life, 59(1), 14 - 20.
    • Ramelli GP, Aloysius A, King C, Davis T, Muntoni F (2007). Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome. Dev Med Child Neurol, 49(5), 367 - 371.
    • Prothero J, Lunt P, Muntoni F, Manzur A, O'Shea S, Williams M, Wakeling E (2007). Interpretation of a complex FSHD result in an Asian family in relation to initially apparent compound heterozygosity.
    • Kaufmann P, Muntoni F (2007). Issues in SMA clinical trial design. The International Coordinating Committee (ICC) for SMA Subcommittee on SMA Clinical Trial Design. Neuromuscul.Disord, 17(6), 499 - 505.
    • Amthor H, Macharia R, Navarrete R, Schuelke M, Brown SC, Otto A, Voit T, Muntoni F, Vrbova G, Partridge T, Zammit P, Bunger L, Patel K (2007). Lack of myostatin results in excessive muscle growth but impaired force generation. Proc.Natl.Acad Sci U.S.A, 104(6), 1835 - 1840.
    • Amthor H, Macharia R, Navarrete R, Schuelke M, Brown SC, Otto A, Voit T, Muntoni F, Vrbova G, Partridge T, Zammit P, Bunger L, Patel K (2007). Lack of myostatin results in excessive muscle growth but impaired force generation (vol 104, pg 1835, 2007). P NATL ACAD SCI USA, 104(10), 4240 - 4240. doi:10.1073/pnas.0701154104
    • Poulton C, Kinali M, Robb S, Main M, Manzur A, Muntoni F (2007). Long-term steroid use of intermittent low-dosage prednisolone therapy in Duchenne muscular dystrophy with special reference to tolerance and functional outcomes. doi:10.1016/j.nmd.2007.06.044
    • Godfrey C, Clement E, Tan J, Brockington M, Torelli S, Feng L, Brown S, Jimenez-Mallebrera C, Sewry C, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F (2007). Mild POMGnT1 mutations underlie a novel limb girdle muscular dystrophy variant. doi:10.1016/j.nmd.2007.06.364
    • Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F (2007). Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.. Brain, 130(Pt 10), 2725 - 2735. doi:10.1093/brain/awm212
    • Boor I, Nagtegaal M, Kamphorst W, van D, V P, J C VH, J D, A B, K E P-C, I M, F E, R S, G C VDK, M S (2007). MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet. Acta Neuropathol.(Berl), , - .
    • Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Muller CR, Brown S, Treves S, Muntoni F (2007). Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain, , - .
    • Morgan J, Muntoni F (2007). Mural cells paint a new picture of muscle stem cells. Nat Cell Biol, 9(3), 249 - 251.
    • Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F (2007). Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson.Imaging, 25(2), 433 - 440.
    • Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC (2007). Muscular dystrophies due to defective glycosylation of dystroglycan.. Acta Myol, 26(3), 129 - 135.
    • Clement E, Mercuri E, Rutherford M, Smith J, North K, Kinali M, Straub V, Bushby K, Cowan F, Godfrey C, Quirdiva R, Topaloglu H, Klein A, Muntoni F (2007). Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies. doi:10.1016/j.nmd.2007.06.366
    • Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG (2007). Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol, 61(2), 175 - 184.
    • Feng L, Jimenez-Mallebrera C, Quinlivan R, Muntoni F, Sewry C (2007). Non-specific over-expression of utrophin in a variety of neuromuscular disorders including limb girdle muscular dystrophies and congenital myopathies. doi:10.1016/j.nmd.2007.06.275
    • Zou Y, Schessl J, Lampe A, Hu Y, Jimenez-Mallebrera C, Schreiber G, Stolte-Dijkstra I, Fock A, Chu M, Bushby K, Weiss R, Flanigan K, Muntoni F, Bonnemann C (2007). Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich. doi:10.1016/j.nmd.2007.06.280
    • Kinali M, Main M, Eliahoo J, Messina S, Knight RK, Lehovsky J, Edge G, Mercuri E, Manzur AY, Muntoni F (2007). Predictive factors for the development of scoliosis in Duchenne muscular dystrophy. Eur J Paediatr Neurol, 11(3), 160 - 166.
    • Treves S, Jungbluth H, Zhou H, Yamaguchi N, Meissner G, Sewry'Md C, Zorzato F, Muntoni F (2007). RYR1 mutations and multi-minicore disease.
    • Main M, Mercuri E, Haliloglu G, Baker R, Kinali M, Muntoni F (2007). Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?. Neuromuscul.Disord, 17(3), 227 - 230.
    • Fletcher S, Adams AM, Harding PL, McClorey G, Muntoni F, Iversen PL, Wilton SD (2007). A personalised genetic treatment for DMD.
    • Jimenez-Mallebrera C, Kim J, Brown S, Feng L, Muntoni F (2007). Ullrich congenital muscular dystrophy fibroblasts and their adhesion to extracellular matrix proteins.
    • Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, Guicheney P, Buj-Bello A, Bonnemann C, Muntoni F (2007). Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul.Disord, 17(4), 338 - 345.
    • Zhou HY, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S (2007). Characterization of recessive RYR1 mutations in core myopathies (vol 15, pg 2791, 2006). HUM MOL GENET, 16(10), 1269 - 1269. doi:10.1093/hmg/ddm092
    • Voit T, Cirak S, Abraham S, Karakesisoglou I, Parano E, Pavone P, Falsaperia R, Amthor H, Schroeder J, Muntoni F, Guicheney P, Nurnberg P, Noegel A, Herrmann R (2007). Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1): The third nuclear envelopathy with muscular dystrophy.
    • Piercy RJ, Zhou H, Feng L, Pombo A, Muntoni F, Brown SC (2007). Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuromuscul.Disord, 17(4), 297 - 305.
    • Kinali M, Robinson R, Sagi L, Nihoyannopoulos P, Manzur A, Muntoni F (2007). The role of ACE inhibitor therapy in presymptomatic cardiomyopathy in Duchenne muscular dystrophy.
    • Neri M, Gualandi F, Rimessi P, Bovolenta M, Alfano G, Banfi S, Calzolari E, Muntoni F, Ferlini A (2007). The topographic distribution of the dystrophin brain isoform in the human cardiac muscle: Implications for the pathogenesis of the x-linked dilated cardiomyopathy. doi:10.1016/j.nmd.2007.06.268
    • Arechavala-Gomeza V, Kinali M, Feng L, Edge G, Hunt D, Lehovsky J, Chambers D, Straub V, Bushby K, Sewry C, Morgan J, Muntoni F (2007). Do revertants increase with age in Duchenne muscular dystrophy boys?. doi:10.1016/j.nmd.2007.06.274
    • Hartley L, Kinali M, Knight R, Mercuri E, Hubner C, Bertini E, Manzur AY, Jimenez-Mallebrera C, Sewry CA, Muntoni F (2007). A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. Neuromuscul.Disord, 17(2), 174 - 179.
    • Muntoni F (2007). Are we any further in the treatment of muscular dystrophies?. doi:10.1016/j.nmd.2007.06.455
    • Arechavala-Gomeza V, Graham IR, Popplewell LJ, Adams AM, artsma-Rus A, Kinali M, Morgan JE, van Deutekom JC, Wilton SD, Dickson G, Muntoni F (2007). Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. Human Gene Therapy, 18(9), 798 - 810. doi:10.1089/hum.2006.061
    • Jimenez-Mallebrera C, Zhou H, Manzur A, Feng L, Sewry C, Muntoni F (2007). Core myopathy without mutations in RYRI or SEPNI genes. doi:10.1016/j.nmd.2007.06.406

    2006

    • Muntoni F (2006). Cardiac involvement in limb girdle muscular dystrophies.
    • Kinali M, Knight RK, Main M, Mercuri E, Messina S, Manzur AY, Muntoni F (2006). Predictive factors for the development of scoliosis in Duchenne Muscular Dystrophy. DEV MED CHILD NEUROL, 48, 4 - 5.
    • Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S (2006). Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet, 15(18), 2791 - 2803.
    • Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Recan D, Shatunov A, Sewry CA, Brown SC (2006). Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain, 129(Pt 5), 1260 - 1268. doi:10.1093/brain/awl062
    • Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F (2006). A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul.Disord, 16(9-10), 571 - 582.
    • Kinali M, Manzur AY, Mercuri E, Gibson BE, Hartley L, Simonds AK, Muntoni F (2006). UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy. Pediatr Rehabil., 9(4), 351 - 364.
    • Knight R, Wilson B, Davis T, Muntoni F (2006). Ulna length in children with neuromuscular disorders: correlation with height and forced vital capacity. DEV MED CHILD NEUROL, 48, 28 - 29.
    • van Reeuwijk J, Maugenre S, van den EC, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H (2006). The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat., 27(5), 453 - 459.
    • Godfrey C, Mein R, Brockington M, Brown S, Escolar D, Abbs S, Muntoni F (2006). The identification of compound heterozygous mutations in the Fukutin gene in two non Japanese patients with Limb girdle muscular dystrphy..
    • Kaluarachchi M, Skordis L, Brockington M, Muntoni F, Brown SC (2006). The use of FRET analysis to look at the interaction of glycosyltransferases responsible for dystroglycanopathies. doi:10.1016/j.nmd.2006.05.122
    • Mercuri E, Messina S, Battini R, Berardinelli A, Boffi P, Bono R, Bruno C, Carboni N, Cini C, Colitto F, D'Amico A, Minetti C, Mirabella M, Mongini T, Morandi L, Dlamini N, Orcesi S, Pelliccioni M, Pane M, Pini A, Swan AV, Villanova M, Vita G, Main M, Muntoni F, Bertini E (2006). Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul.Disord, 16(2), 93 - 98.
    • Zhou H, Jungbluth H, Treves S, Bertini E, Straub V, Bushby K, Sewry C, Muntoni F (2006). RYR1 genotype-phenotype correlative and functional studies in a large cohort of core myopathy patients with RYR1 mutations. doi:10.1016/j.nmd.2006.05.146
    • Main M, Kinali M, Haliloglu G, Mercuri E, Baker R, Muntoni F (2006). Serial casting of the ankles in Duchenne muscular dystrophy: an alternative to surgery?. DEV MED CHILD NEUROL, 48, 5 - 5.
    • Kroos M, Manta P, Mavridou I, Muntoni F, Halley D, Van der HR, Zaifeiriou D, Van der PA, Reuser A, Michelakakis H (2006). Seven cases of Pompe disease from Greece. J Inherit Metab Dis, 29(4), 556 - 563.
    • James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K (2006). Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology, 67(9), 1710 - 1712.
    • Mercuri E, Topaloglu H, Brockington M, Berardinelli A, Pichiecchio A, Santorelli F, Rutherford M, Talim B, Ricci E, Voit T, Muntoni F (2006). Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol, 63(2), 251 - 257.
    • Muntoni F (2006). Therapeutic highlights in muscular dystrophies.
    • Mercuri E, Topaloglu H, Brockington M, Berardinelli A, Santorelli F, Rutherford M, Talim B, Ricci E, Voit T, Muntoni F (2006). The spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. DEV MED CHILD NEUROL, 48, 6 - 6.
    • Brockington M, Torelli S, Kaluarachchi M, Brown SC, Muntoni F (2006). The transient expression of Protein-O-Mannosyl Transferase 1 (POMT1) mutants retain their endoplasmic reticulum localisation.
    • Facer P, Atherton D, Roberts K, Misra VP, Kinali M, Manzur AY, Muntoni F, Anand P (2006). A new syndrome of congenital insensitivity to pain diagnosed by skin biopsy and contact heat evoked potentials (CHEPS).
    • Arechavala V, Bushby K, Dickson G, Graham I, Kinali M, Liu K, Morgan J, Muntoni F, Popplewell L, Partridge T, Thorogood F, Wells K, Wells N, Wood M, Yin H (2006). A phase I/II clinical trial in Duchenne muscular dystrophy using IM and IV delivered antisense oligonucleotides: The MDEX consortium. doi:10.1016/j.nmd.2006.05.138
    • Jungbluth H, Zhou H, Bertini E, Straub V, Bushby K, Robb S, Treves S, Sewry C, Muntoni F (2006). Autosomal centronuclear myopathy due to mutations in the skeletal muscle ryanodine receptor gene. DEV MED CHILD NEUROL, 48, 30 - 31.
    • Senderek J, Krieger M, Stendel C, North K, Muntoni F, Quijano-Roy S, Ebinger F, Schroder JM, Voit T, Weis J, Topaloglu H, Zerres K (2006). Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. doi:10.1016/j.nmd.2006.05.132
    • Kinali M, Knight RK, Main M, Mercuri E, Messina S, Manzur AY, Muntoni F (2006). Predictive factors for the development of scoliosis in Duchenne muscular dystrophy. doi:10.1016/j.nmd.2006.05.239
    • Mercuri E, D'Amico A, Tessa A, Berardinelli A, Pane M, Messina S, van Reeuwijk J, Bertini E, Muntoni F, Santorelli FM (2006). POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul.Disord, 16(7), 446 - 448.
    • Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P (2006). Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study. J Cardiovasc Magn Reson., 8(5), 723 - 730.
    • van Reeuwijk J, Maugenre S, Van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, Van Bokhoven H (2006). Glyc-O-genetics of Walker-Warburg syndrome and related disorders. doi:10.1016/j.nmd.2006.05.118
    • Main M, Kinali M, Muntoni F (2006). Limitation of neck movement may be a feature of most of the childhood neuromuscular disorders. doi:10.1016/j.nmd.2006.05.076
    • Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den BP, Iannaccone S, Laing NG, Wallgren-Pettersson C (2006). Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat., 27(9), 946 - 956.
    • Garralda ME, Muntoni F, Cunniff A, Caneja AD (2006). Knee-ankle-foot orthosis in children with duchenne muscular dystrophy: user views and adjustment. Eur J Paediatr Neurol, 10(4), 186 - 191.
    • Kinali M, Messina S, Mercuri E, Lehovsky J, Edge G, Manzur AY, Muntoni F (2006). Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study. Dev Med Child Neurol, 48(6), 513 - 518.
    • Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, Moore GE, Muntoni F (2006). Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. The American Journal of Human Genetics, 79(5), 859 - 868. doi:10.1086/508500
    • Muntoni F, Bushby K, Manzur AY (2006). Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK. Neuromuscul.Disord, 16(3), 210 - 219.
    • Nicholson C, Main M, Mercuri E, Muntoni F (2006). Is there a relationship between hamstring length and function in ambulant boys with Duchenne muscular dystrophy?. doi:10.1016/j.nmd.2006.05.238
    • Jungbluth H, Zhou H, Treves S, Sewry C, Muntoni F (2006). Expanding range of phenotypes associated with mutations in the skeletal muscle ryanodine receptor gene. DEV MED CHILD NEUROL, 48, 7 - 8.
    • Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy R, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F (2006). Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle & Nerve, 31(5), 602 - 609.
    • Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F (2006). Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol, 60(5), 603 - 610.
    • Ducreux S, Zorzato F, Ferreiro A, Jungbluth H, Muntoni F, Monnier N, Muller CR, Treves S (2006). Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. Biochem.J, 395(2), 259 - 266.
    • Ramelli GP, Bagnall A, King C, Davies T, Muntoni F (2006). Gastrostomy placement in paediatric neuromuscular patients: indications and outcome. DEV MED CHILD NEUROL, 48, 27 - 28.
    • Brown S, Brockington M, Kaluarachchi M, Manley J, Torelli S, Wells D, Muntoni F (2006). Evaluation of the effect of a transient up-regulation of LARGE in the mouse m.tibialis anterior.
    • Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, Calzolari E, Ferlini A (2006). Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene. Gene, 370, 26 - 33.
    • Godfrey C, Mein R, Brockington M, Elson E, Topaloglu H, Smith J, Escolar D, Bertini E, Merlini I, Mercuri E, Bushby K, Straub V, North K, Abbs S, Muntoni F (2006). Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations. doi:10.1016/j.nmd.2006.05.133
    • Godfrey C, Mein R, Jimenez-Mallebrera C, Feng L, Brockington M, Muntoni F, Abbs S (2006). Mutation detection in a large cohort of muscular dystrophy patients widens the clinical spectrum associated with dystroglycanopathy genes.
    • Giatrakos N, Kinali M, Stephens D, Dawson D, Muntoni F, Nihoyannopoulos P (2006). Cardiac tissue velocities and strain rate in the early detection of myocardial dysfunction of asymptomatic boys with Duchenne's muscular dystrophy: relationship to clinical outcome. Heart, 92(6), 840 - 842.

    2005

    • Vasta I, Kinali M, Messina S, Guzzetta A, Kapellou O, Manzur A, Cowan F, Muntoni F, Mercuri E (2005). Can clinical signs identify newborns with neuromuscular disorders?. J Pediatr, 146(1), 73 - 79.
    • Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F (2005). Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Human Molecular Genetics, 14(5), 657 - 665. doi:10.1093/hmg/ddi062
    • Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bonnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G (2005). Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology, 64(11), 1931 - 1937.
    • Muntoni F, Voit T (2005). 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands. Neuromuscul.Disord, 15(11), 794 - 801.
    • Muntoni F, Zafeiriou DI, Jimenez C, Reuser A, Sewry C (2005). A case presenting with delayed motor milestones. Neuromuscul.Disord, 15(11), 817 - 818.
    • Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML (2005). A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. Hum Genet, 117(5), 460 - 466.
    • Longman C, Sellick G, Mahjneh I, Brockington M, Sagi L, Anderson L, Topaloglu H, Bushby K, Houlston R, Muntoni F (2005). A novel locus for congenital muscular dystrophy maps to chromosome 4p16.3.
    • Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB (2005). Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet, 42(2), 108 - 120.
    • Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton-Lamprecht I, Muntoni F, Hanefeld F, Bonnemann CG (2005). Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A, 132(3), 296 - 301.
    • Muntoni F (2005). Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin. Neuromuscul.Disord, 15(4), 269 - 270.
    • Olpin SE, Clark S, Andresen BS, Bischoff C, Olsen RK, Gregersen N, Chakrapani A, Downing M, Manning NJ, Sharrard M, Bonham JR, Muntoni F, Turnbull DN, Pourfarzam M (2005). Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J Inherit Metab Dis, 28(4), 533 - 544.
    • Goodwin FC, Muntoni F (2005). Cardiac involvement in muscular dystrophies: molecular mechanisms. Muscle Nerve, 32(5), 577 - 588.
    • Knight RK, Muntoni F, Lampe A, Bushby K, Mercuri E, Manzur A (2005). Cutaneous abnormality as a diagnostic tool in the diagnosis of collagen VI deficient congenital muscular dystrophy.
    • Piercy RJ, Zhou H, Torelli S, Ellis J, Muntoni F, Brown SC (2005). Desmin localisation in autosomal dominant Emery Dreifuss muscular dystrophy.
    • Muntoni F, Mercuri E, Bonne G, Goldfarb L, Richard P, Recan D, Sewry CA, Brown SC (2005). Double lamin-emerin and lamin-desmin trouble.
    • Brockington M, Muntoni F (2005). The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies. Acta Myol., 24(3), 217 - 221.
    • Mercuri E, Topaloglu H, Brockington M, Berardinelli A, Pichiecchio A, Santorelli FM, Ricci E, Rutherford M, Voit T, Muntoni F (2005). The spectrum of brain malformations in patients with FKRP gene mutations.
    • Jimenez-Mallebrera C, Brown SC, Maioli M, Kim J, Lampe AK, Bushby K, Flanigan KM, Sewry CA, Muntoni F (2005). Production, secretion and immunolabelling of collagen VI in patients with recessive and dominant mutations in COL6 genes.
    • Main M, Haliloglu G, Kinali M, Mercuri E, Muntoni F, Baker R (2005). Rehabilitation of walking in KAFO's in Duchenne muscular dystrophy: can surgical release of the TA be avoided?.
    • Zhou H, Treves S, Jungbluth H, Sewry C, Muntoni F (2005). RYR1 gene genotype-phenotype and functional correlative studies in central core disease and multi-minicore disease.
    • Gonzalez V, Quijano-Roy S, Parain K, Bonnemann C, Bushby K, Castiglioni C, Ceuterick C, Chaigne D, Colomer J, Desguerre I, de Visser M, Elcioglu N, Eymard B, Fidzianska A, Goemans N, Jungbluth H, Kaindl AM, Labarre-Vila A, Leroy JP, Lochmuller H, Mayer M, Martin JJ, Muntoni F, Merlini L, Pellegrini N, Quinlivan R, Romero NB, Sewry C, Topaloglu H, Toutain A, Urtizberea A, van der Kooi A, Viollet L, Voit T, Estournet B, Richard P, Guicheney P, Ferreiro A (2005). SEPN-related myopathy: an emerging entity phenotypical and molecular analysis of 80 cases.
    • Torelli S, Brown SC, Brockington M, Dolatshad NF, Jimenez C, Skordis L, Feng LH, Merlini L, Jones DH, Romero N, Wewer U, Voit T, Sewry CA, Noguchi S, Nishino I, Muntoni F (2005). Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Neuromuscul.Disord, 15(12), 836 - 843.
    • Brown SC, Torelli S, Ugo I, De Biasia F, Howman EV, Poon E, Britton J, Davies KE, Muntoni F (2005). Syncoilin upregulation in muscle of patients with neuromuscular disease. Muscle Nerve, 32(6), 715 - 725.
    • Muntoni F, Bushby K, van Ommen G (2005). 128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands. Neuromuscul.Disord, 15(6), 450 - 457.
    • Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K (2005). 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscul.Disord, 15(11), 802 - 816.
    • Jungbluth H, Zhou H, Bertini E, Treves S, Sewry C, Muntoni F (2005). Autosomal dominant mutations in the human ryanodine receptor (RYR1) gene associated with centronuclear myopathy.
    • Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Muller C, Muntoni F (2005). Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology, 65(12), 1930 - 1935.
    • Jungbluth H, Zhou H, Sewry CA, Mills KR, Rose MR, Muntoni F (2005). Multi-minicore disease with external ophthalmoplegia and periodic paralysis associated with a mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
    • Mercuri E, Jungbluth H, Muntoni F (2005). Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. Curr Opin Neurol, 18(5), 526 - 537.
    • Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Saenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F (2005). Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul.Disord, 15(2), 164 - 171.
    • Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F (2005). Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul.Disord, 15(4), 303 - 310.
    • Dolatshad NF, Brockington M, Torelli S, Skordis L, Wever U, Wells DJ, Muntoni F, Brown SC (2005). Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. Experimental Cell Research, 309(2), 370 - 378. doi:10.1016/j.yexcr.2005.06.017
    • Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K (2005). Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet, 37(12), 1312 - 1314.
    • Sewry CA, Jimenez-Mallbrera C, Feng L, Quinlivan R, Muntoni F (2005). Over-expression of sarcolemmal utrophin in patients with limb-girdle muscular dystrophies.
    • Ip P, Knight R, Dokal I, Manzur AY, Muntoni F (2005). Peripheral neuropathy--a novel finding in dyskeratosis congenita. Eur J Paediatr Neurol, 9(2), 85 - 89.
    • van Reeuwijk J, Janssen M, van den Elzen C, de Bernabe DBV, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Walsh CA, Barth PG, Brunner HG, van Bokhoven H (2005). POMT2 mutations give rise to Walker Warburg syndrome.
    • van Reeuwijk J, Janssen M, van den EC, Beltran-Valero DB, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H (2005). POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet, 42(12), 907 - 912.
    • Fisher I, Abraham D, Bouri K, Hoffman EP, Muntoni F, Morgan J (2005). Prednisolone-induced changes in dystrophic skeletal muscle. FASEB J, 19(7), 834 - 836.
    • Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A (2005). Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. Am J Med Genet A, 132(4), 391 - 394.
    • Giatrakos N, Kinali M, Muntoni F, Nihoyannopoulos P (2005). Impaired endothelium independent vasodilatation of the brachial artery in patients with limb-girdle muscular dystrophy indicates smooth muscle cell dysfunction..
    • Sellick GS, Longman C, Brockington M, Mahjneh I, Sagi L, Bushby K, Topaloglu H, Muntoni F, Houlston RS (2005). Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3. Hum Genet, 117(2-3), 207 - 212.
    • Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero N, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tome FMS (2005). Prenatal diagnosis in laminin alpha-2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of 5 international centers.
    • Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tome FM (2005). Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscul.Disord, 15(9-10), 588 - 594.
    • Dlamini N, Messina S, Padua DL, Main M, Knight R, Manzur A, Mercuri E, Muntoni F, Kinali M (2005). Quality of life outcomes following rehabilitation in knee-ankle-foot orthoses (KAFOs) in Duchenne muscular dystrophy.
    • Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F (2005). Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve, 31(5), 602 - 609.
    • Ip P, Knight R, Dokal I, Manzur AY, Muntoni F (2005). Peripheral neuropathy: a novel finding in dyskeratosis congenital.
    • Jimenez-Mallebrera C, Brown SC, Sewry CA, Muntoni F (2005). Congenital muscular dystrophy: molecular and cellular aspects. Cell Mol Life Sci, 62(7-8), 809 - 823.

    2004

    • Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K (2004). Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol, 56(5), 738 - 741.
    • Lamhonwah AM, Onizuka R, Olpin SE, Muntoni F, Tein I (2004). OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?. J Inherit Metab Dis, 27(4), 473 - 476.
    • Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Hilton JD, Voit T, Bushby K, Muntoni F (2004). Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. Neuropediatrics, 35(4), 224 - 229.
    • Muntoni F, Brockington M, Torelli S, Brown SC (2004). Defective glycosylation in congenital muscular dystrophies. Curr Opin Neurol, 17(2), 205 - 209.
    • Torelli S, Brown SC, Jimenez-Mallebrera C, Feng L, Muntoni F, Sewry CA (2004). Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions. Neuropathol.Appl Neurobiol., 30(5), 540 - 545.
    • Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T, Muntoni F (2004). Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. Arch Neurol, 61(8), 1301 - 1306.
    • Lampe AK, Muntoni F, Bonnemann C, Flanigan KM, Swoboda K, Jimenez-Mallebrera C, Laval S, Weiss RB, Bushby K (2004). Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3.
    • Kinali M, Banks LM, Mercuri E, Manzur AY, Muntoni F (2004). Bone mineral density in a paediatric spinal muscular atrophy population. Neuropediatrics, 35(6), 325 - 328.
    • Brockington M, Torelli S, Boito C, Longman C, Brown SC, Muntoni F (2004). Transient expression of wild type but not mutant LARGE localises at the Golgi apparatus and causes increased alpha-dystroglycan biosynthesis.
    • Dolatshad N, Skordis LA, Torelli S, Brockington M, Muntoni F, Brown SC (2004). Cellular localisation of wild type and mutated FKRP.
    • Torelli S, Brown SC, Dolatshad N, Jimenez-Mallebrera C, Skordis L, Brockington M, Feng L, Romero N, Jones DH, Merlini L, Sewry C, Noguchi S, Nishino I, Muntoni F (2004). Developmental expression and sub-cellular localisation of fakutin related protein in cultured cell lines and the muscle of patients with MDC1C and LGMD2I.
    • Kinali M, Olpin SE, Clayton PT, Daubeney PE, Mercuri E, Manzur AY, Tein I, Leonard J, Muntoni F (2004). Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. Eur J Paediatr Neurol, 8(4), 217 - 219.
    • Jungbluth H, Beggs A, Bonnemann C, Bushby K, Ceuterick-de Groote C, Estournet-Mathiaud B, Goemans N, Guicheney P, Lescure A, Lunardi J, Muntoni F, Quinlivan R, Sewry C, Straub V, Treves S, Ferreiro A (2004). 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands. Neuromuscul.Disord, 14(11), 754 - 766.
    • Crabtree NJ, Kibirige MS, Fordham JN, Banks LM, Muntoni F, Chinn D, Boivin CM, Shaw NJ (2004). The relationship between lean body mass and bone mineral content in paediatric health and disease. Bone, 35(4), 965 - 972.
    • Quinlivan R, Roper H, Manzur A, Eagle M, Hill M, Davie M, Mughal Z, Shaw N, McDonagh J, Muntoni F, Bushby K (2004). Report of a Muscular Dystrophy Campaign funded workshop to review the prevalence of osteoporosis in DMD and its treatment and prevention.
    • Bushby K, Muntoni F, Urtizberea A, Hughes R, Griggs R (2004). Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands. Neuromuscul.Disord, 14(8-9), 526 - 534.
    • Kurian MA, Hartley L, Zolkipli Z, Little MA, Costigan D, Naughten ER, Olpin S, Muntoni F, King MD (2004). Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. Neuropediatrics, 35(5), 312 - 316.
    • Hu TM, Gabriel CM, Manzur AY, King RH, Muntoni F (2004). "A faint in the emergency department (due to primary systemic amyloidosis neuropathy).". Practical Neurology, 4, 104 - 109.
    • Majumdar A, Hartley L, Manzur AY, King RH, Orrell RW, Muntoni F (2004). A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission.. Neuromuscular Disorders, 14(12), 818 - 821.
    • Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, Anderson L, Ugo I, Kroger S, Bushby K, Voit T, Sewry C, Muntoni F (2004). Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. American Journal Of Pathology, 164(2), 727 - 737.
    • Longman C, Sewry CA, Muntoni F (2004). Muscle involvement in the cerebro-oculo-facio-skeletal syndrome. Pediatr Neurol, 30(2), 125 - 128.
    • Beltran-Valero DB, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F (2004). Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet, 41(5), e61 - .
    • Messina S, Hurtley L, Kinali M, Main M, Jungbluth H, Muntoni F, Mercuri E (2004). Pilot study of salbutamol in congenital myopathies.
    • Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E (2004). Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics, 35(5), 262 - 266.
    • Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E (2004). Pilot trial of Salbutamol in congenital myopathies.
    • Giatrakos N, Stephens D, Kinali M, Muntoni F, Nihoyannopoulos P (2004). Strain rate can accurately predict a more aggressive cardiac involvement in asymptomatic patients with duchenne muscular dystrophy.
    • Brockington M, Brown SC, Lampe A, Yuva Y, Feng L, Jimenez-Mallebrera C, Sewry CA, Flanigan KM, Bushby K, Muntoni F (2004). Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Prenat Diagn, 24(6), 440 - 444.
    • Treves S, Ducreux S, Sewry C, Muntoni F, Muller C, Zorzato F (2004). Ryanodine receptor mutations linked to MH and CCD: effect of mutations on intracellular calcium homeostasis of cultured primary human skeletal muscle cells.
    • Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG (2004). Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul.Disord, 14(8-9), 461 - 470.
    • Muntoni F, Brockington M, Brown SC (2004). Glycosylation eases muscular dystrophy. Nat Med, 10(7), 676 - 677.
    • Jimenez-Mallebrera C, Maioli M, Feng L, Brown SC, Lampe AK, Bushby K, Flanigan K, Weiss B, Bonnemann C, Mercuri E, Torelli S, Sewry CA, Muntoni F (2004). Normal collagen VI immunolabelling in Ullrich congenital muscular dystrophy with COL6 mutations.
    • Patel K, Muntoni F (2004). Inducing muscle hypertrophy as a therapeutic strategy for muscular dystrophies. 122nd ENMC International Workshop, Naarden, The Netherlands, 28-30 November 2003. Neuromuscul.Disord, 14(8-9), 519 - 525.
    • Kaluarachchi M, Jimenez-Mallebrera C, Torelli S, Brockington M, Muntoni F, Brown SC (2004). In situ hybridization of FKRP mRNA during mouse development.
    • Muntoni F (2004). Journey into muscular dystrophies caused by abnormal glycosylation. Acta Myol., 23(2), 79 - 84.
    • Jungbluth H, Davis MR, Muller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F (2004). Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul.Disord, 14(12), 785 - 790.
    • Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F (2004). Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul.Disord, 14(12), 779 - 784.
    • Jimenez-Mallebrera C, Feng L, Brown SC, Barber R, Abbs S, Sewry CA, Muntoni F (2004). Primary or secondary laminin-alpha 2 deficiency?.
    • Muntoni F, Voit T (2004). The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul.Disord, 14(10), 635 - 649.
    • Giatrakos ND, Kinali M, Muntoni F, Nihoyannopoulos P (2004). Strain rate and strain rate-derived time to onset of relaxation can be used for the early detection of impaired myocardial function in asymptomatic boys with Duchenne muscular dystrophy.
    • Giatrakos N, Stephens D, Kinali M, Muntoni F, Nihoyannopoulos P (2004). Strain rate can be used for the prediction of the development of a more aggressive cardiomyopathy in asymptomatic patients with Duchenne muscular dystrophy. A three year follow-up study.
    • Muntoni F (2004). Duchenne Muscular dystrophy: from pathogenesis to therapeutic trials.
    • Ducreux S, Zorzato F, Muller C, Sewry C, Muntoni F, Quinlivan R, Restagno G, Girard T, Treves S (2004). Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. J Biol Chem, 279(42), 43838 - 43846.
    • Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K (2004). Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol, 61(5), 690 - 694.
    • Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S (2004). Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul.Disord, 14(4), 253 - 260.
    • Treves S, Ducreux S, Sewry C, Muntoni F, Quinlivan R, Muller C, Restagno G, Zorzato F (2004). Effect of ryanodine receptor mutations on IL-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia susceptible individuals and patients affected by central core disease.
    • Kinali M, Jungbluth H, Eunson LH, Sewry CA, Manzur AY, Mercuri E, Hanna MG, Muntoni F (2004). Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Neuromuscular Disorders, 14(10), 689 - 693. doi:10.1016/j.nmd.2004.06.007
    • Brown SC, Torelli S, Jimenez C, Muntoni F, Sewry CA (2004). Immunopathology and molecular genetics of dystrophinopathies. Suppl Clin Neurophysiol, 57, 313 - 321.
    • Cohen N, Rimessi P, Gualandi F, Ferlini A, Muntoni F (2004). In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. Biochem.Biophys Res Commun., 317(4), 1215 - 1220.
    • Hackman P, Juvonen V, Vihola A, Sarparanta J, Auranen M, Suominen T, Brockington M, Muntoni F, Saenz A, Kalimo H, Marchand S, Richard I, Udd B (2004). Molecular genetics of recessive limb girdle muscular dystrophies in Finland.
    • Cohen N, Muntoni F (2004). Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart, 90(8), 835 - 841.
    • Kutzick C, Herrmann R, Straub V, Steinbrecher A, Cirak S, Korenke C, Guicheney P, Schara U, Wrogemann K, Muntoni F, Faurholt-Pedersen V, Wewer U, Voit T (2004). Muscle-eye-brain disease due to homozygous founder mutation in FKRP in Northern Germany and Denmark.
    • Mercuri E, Messina S, Kinali M, Cini C, Longman C, Battini R, Cioni G, Muntoni F (2004). Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study. Neuromuscul.Disord, 14(2), 125 - 129.

    2003

    • Kinali M, Banks L, Mercuri E, Manzur AY, Muntoni F (2003). Bone mineral density in paediatric spinal muscular atrophy.
    • Kinali M, Messina S, Mercuri E, Stephens DA, Jaywant S, Manzur AY, Banks L, Muntoni F (2003). Bone mineral density measurement in children with Duchenne muscular dystrophy: effect of low dose intermittent prednisolone.
    • Muntoni F (2003). Cardiac complications of childhood myopathies. J Child Neurol, 18(3), 191 - 202.
    • Muntoni F (2003). Cardiomyopathy in muscular dystrophies. Curr Opin Neurol, 16(5), 577 - 583.
    • Muntoni F, Sewry CA (2003). Central core disease: new findings in an old disease. Brain, 126(Pt 11), 2339 - 2340.
    • Saran RK, Jimenez-Malebrera C, Jungbluth H, Sewry CA, Muntoni F (2003). Central/mini core muscle disease; immunohistochemically revisited. NEUROPATH APPL NEURO, 29(5), 525 - 525.
    • Rimessi P, Gualandi F, Patarnello T, Muntoni F, Calzolari E, D'Agostaro G, Ferlini A (2003). Characterisation of two novel splicing enhancer sequences in the dystrophin gene, located within a LINE1 element and involved in XLDC..
    • Zorzato F, Yamaguchi N, Xu L, Meissner G, Muller CR, Pouliquin P, Muntoni F, Sewry C, Girard T, Treves S (2003). Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Hum Mol Genet, 12(4), 379 - 388.
    • Zorzato F, Yamaguchi N, Xu L, Meissner G, Muller CR, Pouliquin P, Sewry C, Muntoni F, Girard T, Treves S (2003). Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor..
    • Muntoni F (2003). Congenital muscular dystrophies (CMD). Eur J Paediatr Neurol, 7(5), 229 - .
    • Piercy RJ, Pombo A, Stewart CL, Muntoni F, Brown SC (2003). Does an association of nuclear replication and transcription sites with the nuclear matrix underlie the pathogenesis of the laminopathies?.
    • Dincer P, Balci B, Yuva Y, Talim B, Brockington M, Dincel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerceker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H (2003). A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. Neuromuscul.Disord, 13(10), 771 - 778.
    • Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F (2003). Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proceedings of the National Academy of Sciences of the United States of America, 100(7), 4114 - 4119. doi:10.1073/pnas.0633863100
    • Jungbluth H, Sewry CA, Muntoni F (2003). What's new in neuromuscular disorders? The congenital myopathies. Eur J Paediatr Neurol, 7(1), 23 - 30.
    • Kristiansen M, Knudsen GP, Tanner SM, McEntagart M, Jungbluth H, Muntoni F, Sewry C, Gallati S, Orstavik KH, Wallgren-Pettersson C (2003). X-inactivation patterns in carriers of X-linked myotubular myopathy. Neuromuscul.Disord, 13(6), 468 - 471.
    • Kinali M, Mercuri E, Gibson BE, Hartley L, Manzur AY, Simonds AK, Muntoni F (2003). UK physicians' attitudes and practises in long term non-invasive ventilation of children with Duchenne Muscular Dystrophy.
    • Giatrakos N, Kinali M, Koutroulis G, Mercuri E, Desforges L, Dawson D, Stefanidis A, Nihoyannopoulos P, Muntoni F (2003). Characterization of the early cardiac phenotype in Duchenne muscular dystrophy using tissue doppler imaging derived myocardial performance index.
    • Jimenez-Mallebrera C, Feng L, Brown SC, Muntoni F, Sewry CA (2003). Do alterations in laminin beta 2 localisation indicate a role of laminin-4 in congenital muscular dystrophy?.
    • Muntoni F, Valero DB, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, Yurchenco PD, Urtizberea JA, Wewer UM, Guicheney P (2003). 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). Neuromuscul.Disord, 13(7-8), 579 - 588.
    • Bushby K, Muntoni F, Bourke JP (2003). 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul.Disord, 13(2), 166 - 172.
    • Bonne G, Yaou RB, Beroud C, Boriani G, Brown S, de Visser M, Duboc D, Ellis J, Hausmanowa-Petrusewicz I, Lattanzi G, Merlini L, Morris G, Muntoni F, Opolski G, Pinto YM, Sangiuolo F, Toniolo D, Trembath R, van Berlo JH, van der Kooi AJ, Wehnert M (2003). 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul.Disord, 13(6), 508 - 515.
    • Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K (2003). The phenotype of limb-girdle muscular dystrophy type 2I. Neurology, 60(8), 1246 - 1251.
    • Jimenez-Mallebrera C, Torelli S, Brown SC, Feng L, Brockington M, Sewry CA, Beltran-Valero DB, Muntoni F (2003). Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome. Eur J Paediatr Neurol, 7(3), 129 - 137.
    • Lampe AK, Dunn DM, von Niederhausern AC, Aoyagi A, Hamil C, Duval B, O'Brien K, Laval S, Chu ML, Swoboda K, Muntoni F, Bonnemann C, Flanigan KM, Bushby K, Weiss RB (2003). Rapid direct sequence analysis of the three genes encoding collagen VI.
    • Lampe AK, Dunn DM, von Niederhausern AC, Aoyagi A, Hamil C, Duval B, O'Brien K, Laval S, Chu ML, Swoboda K, Muntoni F, Bonnemann C, Flanigan KM, Bushby K, Weiss RB (2003). Rapid direct sequence analysis of the three genes encoding collagen VI.
    • Eperon IC, Muntoni F (2003). Response to Buratti et al.: Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?. TRENDS MOL MED, 9(6), 233 - 234. doi:10.1016/S1471-4914(03)00068-6
    • Zolkipli Z, Longman C, Brown S, Rahman N, Holder SE, Muntoni F (2003). Skeletal muscle involvement in infantile systemic hyalinosis. Eur J Paediatr Neurol, 7(6), 401 - 406.
    • Main M, Kairon H, Mercuri E, Muntoni F (2003). The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol, 7(4), 155 - 159.
    • Gualandi F, Trabanelli C, Rimessi P, Calzolari E, Toffolatti L, Patarnello T, Kunz G, Muntoni F, Ferlini A (2003). Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion. J Med Genet, 40(8), e100 - .
    • Mercuri E, Cini C, Pichiecchio A, Allsop J, Counsell S, Zolkipli Z, Messina S, Kinali M, Brown SC, Jimenez C, Brockington M, Yuva Y, Sewry CA, Muntoni F (2003). Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. Neuromuscul.Disord, 13(7-8), 554 - 558.
    • Manzur AY, Muntoni F, Simonds A (2003). Muscular dystrophy campaign sponsored workshop: recommendation for respiratory care of children with spinal muscular atrophy type II and III. 13th February 2002, London, UK. Neuromuscul.Disord, 13(2), 184 - 189.
    • Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N (2003). Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet, 73(4), 791 - 800.
    • Treves S, Sewry C, Quinlivan R, Muntoni F, Muller CR, Girard T, Ducreux S, Zorzato F (2003). Mutations in the skeletal muscle calcium channel (ryanodine receptor) linked to central core disease. Impact on the functional properties of the endogenous calcium release channel in cultured human muscle cells.
    • Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L (2003). Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll.Cardiol, 41(5), 771 - 780.
    • Zolkipli Z, Hartley L, Brown S, Rutherford M, Cowan F, Mercuri E, Muntoni F (2003). Occipito-temporal polymicrogyria and subclinical muscular dystrophy. Neuropediatrics, 34(2), 92 - 95.
    • Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F (2003). Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol, 53(4), 537 - 542.
    • Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sanchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Muller CR, Laing NG (2003). Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul.Disord, 13(2), 151 - 157.
    • Gualandi F, Rimessi P, Cardazzo B, Toffolatti L, Dunckley MG, Calzolari E, Patarnello T, Muntoni F, Ferlini A (2003). Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality. Gene, 311, 25 - 33.
    • Dubowitz V, Kinali M, Mercuri E, Main M, Muntoni F (2003). Intermittent, low dosage prednisolone in the long term treatment of early Duchenne muscular dystrophy.
    • Giatrakos N, Kinali M, Koutroulis G, Muntoni F, Nihoyannopoulos P (2003). Impaired strain rate measurements in patients with Duchenne muscular dystrophy.
    • Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmuller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloglu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schoneborn S, Hubner C (2003). Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol, 54(6), 719 - 724.
    • Ben Yaou R, Richard P, Demay L, Merlini L, Muntoni F, Talim B, Toniolo D, Van der Kooi AJ, de Visser M, Voit T, Wehnert MS, Urtizberea JA, Eymard B, Recan D, Bonne G (2003). Lamin A/C gene related disorders: the EUROMEN consortium experience.
    • Nevo Y, Muntoni F, Sewry C, Legum C, Kutai M, Harel S, Dubowitz V (2003). Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. Isr.Med Assoc.J, 5(2), 94 - 97.
    • Wells KE, Torelli S, Lu Q, Brown SC, Partridge T, Muntoni F, Wells DJ (2003). Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle. Neuromuscul.Disord, 13(1), 21 - 31.
    • Desforges L, Stefanidis A, Koutroulis G, Kinali M, Muntoni F, Nihoyannopoulos P (2003). Role of two dimensional and Doppler echocardiography in patients with Duchenne cardiomyopathy.
    • Muntoni F, Torelli S, Ferlini A (2003). Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol, 2(12), 731 - 740.
    • Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Orstavik KH, Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C, Muntoni F (2003). Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Neuromuscul.Disord, 13(1), 55 - 59.
    • Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F (2003). FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology, 60(6), 988 - 992.
    • Longman C, De Bernabe DBV, Brockington M, Muntoni F, Brunner HG, van Bokhoven H (2003). FKRP mutation in a patient with Walker-Warburg syndrome.
    • Majumdar A, Kinali M, Mercuri E, Main M, Muntoni F (2003). Fracture prevalence in spinal muscular atrophy.
    • Torelli S, Kunz G, Berardinelli A, Merlini L, Blake DJ, Brown SC, Muntoni F (2003). Expression and developmental regulation of dystrobrevin isoforms in fetal muscle and Duchenne and Becker muscular dystrophies.
    • Brown SC, Torelli S, Feng L, Cole GJ, Sewry CA, Muntoni F (2003). Immunocytochemical analysis of muscle agrin in MDC1C and LGDM2I.
    • Giatrakos N, Kinali M, Nihoyannopoulos P, Muntoni F (2003). Impaired endothelium independent vasodilatation in patients with sarcoglycan-deficient limb-girdle muscular dystrophy.
    • Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ (2003). Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. Journal of Inherited Metabolic Disease, 26(6), 543 - 557.
    • Longman CA, Brockington M, Kennedy C, Jimenez C, Torelli S, Sewry C, Brown S, Muntoni F (2003). Mutations in the human LARGE gene cause a form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan (MDC1D)..
    • Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F (2003). Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Human Molecular Genetics, 12(21), 2853 - 2861. doi:10.1093/hmg/ddg307
    • Taylor MRG, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WLP, Stetler GL, Muntoni F, Bristow MR, Mestroni L, Familiar Dilated Cardiomyopathy Re (2003). Natural history of dilated cardiomyopathy due to lamin A/C gene mutations (vol 41, pg 771, 2003). J AM COLL CARDIOL, 42(3), 590 - 590. doi:10.1016/S0735-1097(03)00887-8
    • Longman C, Jimenez C, Brockington M, Torelli S, Sewry C, Brown S, Feng L, Muntoni F (2003). Novel forms of muscular dystrophy with alpha-dystroglycan deficiency and absent CNS involvement.
    • Grohmann K, Stolz P, Varon R, Schulke M, Stoltenburg G, Bertini E, Bushby K, Lochmuller H, Muntoni F, Ouvrier R, Zerres K, Rudnik-Schoneborn S, Hubner C (2003). Phenotype and genotype of spinal muscular atrophy with respiratory distress type 1.

    2002

    • Brockington M, Blake DJ, Brown SC, Muntoni F (2002). The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I. Neuromuscul.Disord, 12(3), 233 - 234.
    • Bonne G, Capeau J, de Visser M, Duboc D, Merlini L, Morris GE, Muntoni F, Recan D, Sewry C, Squarzoni S, Stewart C, Talim B, van der KA, Worman H, Schwartz K (2002). 82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands. Neuromuscul.Disord, 12(2), 187 - 194.
    • Lampe AK, Brockington M, Johnson M, Leonard N, Hastings L, Muntoni F, Bushby K (2002). A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes.
    • Skordis LA, Dunckley MG, Eperon IC, Muntoni F (2002). Increased exon 7 inclusion during SMN2 splicing by a novel approach: antisense-mediated targeting of splicing enhancers.
    • Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Muntoni F (2002). Mutations in the fukutin-related-protein gene (FKRP) in two patients with congenital muscular dystrophy 1C (MDC1C), mental retardation and cerebellar cysts.
    • Dalkilic I, Thompson TG, Brossius MA, Puca AA, Feener C, Muntoni F, Kunkel LM (2002). Obscurin interacts with skeletal muscle specific filamin.
    • Rimessi P, Gualandi F, Cardazzo B, Calzolari E, Muntoni F, Patarnello T, Ferlini A (2002). Occurrence of two splicing enhancers and a 5 AE cryptic splice site within a LINE1 retrotransposon (L1PMA2): a novel focus on mobile elements functioning?.
    • Kinali M, Mercuri E, Main M, De Biasia F, Karatza A, Higgins R, Banks LM, Manzur AY, Muntoni F (2002). Pilot trial of albuterol in spinal muscular atrophy. Neurology, 59(4), 609 - 610.
    • Jungbluth H, Muller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F (2002). Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology, 59(2), 284 - 287.
    • Muntoni F, Brown S, Sewry C, Patel K (2002). Muscle development genes: their relevance in neuromuscular disorders. Neuromuscul.Disord, 12(5), 438 - 446.
    • Mercuri E, Cini C, Counsell S, Allsop J, Zolkipli Z, Jungbluth H, Sewry C, Brown SC, Pepe G, Muntoni F (2002). Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol, 6(6), 309 - 314.
    • Mercuri E, Counsell S, Allsopp J, Cini C, Zolkipli Z, Kinali M, Jungbluth H, Muntoni F (2002). Muscle MRI in patients with muscular disorders with ridid spine.
    • Ealing J, Webster R, Brownlow S, Abdelgany A, Oosterhuis H, Muntoni F, Vaux DJ, Vincent A, Beeson D (2002). Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR. Hum Mol Genet, 11(24), 3087 - 3096.
    • Petit N, Moghadaszadeh B, Hu C, Lescure A, Quijano S, Estournet B, Merlini L, Muntoni F, Topaloglu H, Krol A, Wewer U, Guicheney P (2002). Mutations in the Selenoprotein N gene (SEPN1) cause congenital muscular dystrophy with early rigidity of the spine and restrictive respiratory syndrome.
    • Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bonnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P (2002). Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet, 71(4), 739 - 749.
    • Pelin K, Donner K, Holmberg M, Jungbluth H, Muntoni F, Wallgren-Pettersson C (2002). Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromuscul.Disord, 12(7-8), 680 - 686.
    • Pepe G, Lucioli S, Vanegas OC, Minosse C, Giusti B, Urtizberea JA, Muntoni F, Bushby K, de Visser M, Bonnemann C, Sabatelli P, Bertini E, Merlini L, Chu ML (2002). Genotype-phenotype correlation in Bethlem myopathy.
    • Brockington M, Yuva Y, Torelli S, Sewry CA, Mercuri E, Brown SB, Muntoni F, Blake DJ, Bushby K, Voit T (2002). Limb girdle muscular dystrophy 21 is predominantly associated with a Leu276Ile mutation in the fukutin related-protein gene.
    • Deodato F, Sabatelli M, Ricci E, Mercuri E, Muntoni F, Sewry C, Naom I, Tonali P, Guzzetta F (2002). Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency. Neuromuscul.Disord, 12(4), 392 - 398.
    • Toffolatti L, Cardazzo B, Nobile C, Danieli GA, Gualandi F, Muntoni F, Abbs S, Zanetti P, Angelini C, Ferlini A, Fanin M, Patarnello T (2002). Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics, 80(5), 523 - 530.
    • Counsell SJ, Devile C, Mercuri E, Allsop JM, Birch R, Muntoni F (2002). Magnetic resonance imaging assessment of infantile myofibromatosis. Clin Radiol, 57(1), 67 - 70.
    • Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, Schwartz K, Bydder G, Dubowitz V, Muntoni F (2002). Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics, 33(1), 10 - 14.
    • Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans NMLA, Bonnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Richard P, Muntoni F, Voit T, Estournet B, Fardeau M, Guicheney P (2002). SEPN1 mutations cause classical multi-minicore disease: reappraising the nosology of early-onset myopathies.
    • Muntoni F, Fisher I, Morgan JE, Abraham D (2002). Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research. Neuromuscul.Disord, 12 Suppl 1, S162 - S165.
    • Brown SC, Torelli S, Jimenez C, Feng L, Sewry CA, Muntoni F (2002). Dystroglycan expression during muscle development.
    • Jimenez-Mallebrera C, Torelli S, Brown SC, Brockington M, Yuva Y, Sewry CA, Muntoni F (2002). Severe depletion of alpha-dystroglycan in Walker-Warburg syndrome.
    • Quijano-Roy S, Romero NB, Louhichi N, Brockington M, Many H, Yeliz Y, Richard P, Estournet B, Muntoni F, Fardeau M, Barois A, Guicheney P (2002). FKRP (FuKutin Related Protein) gene mutations associated with intermediate phenotype between CMD Type 1C and LGMD2I.
    • Muntoni F (2002). Gene table: congenital muscular dystrophies. Eur J Paediatr Neurol, 6(1), 79 - .
    • McDonald DG, Kinali M, Gallagher AC, Mercuri E, Muntoni F, Roper H, Jardine P, Jones DH, Pike MG (2002). Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol, 44(10), 695 - 698.
    • Esapa CT, Benson MA, Schroder JE, Martin-Rendon E, Brockington M, Brown SC, Muntoni F, Kroger S, Blake DJ (2002). Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet, 11(26), 3319 - 3331.
    • Koutroulis G, Kinali M, Dawson D, Giatrakos N, Muntoni F, Nihoyannapoulos P (2002). Evaluation of myocardial involvement in Duchenne dystrophy detected with tissue Doppler derived myocardial velocity gradients. J AM COLL CARDIOL, 39(5), 182A - 182A.
    • Hubner C, Varon R, Grohmann K, Schuelke M, Muntoni F, Rudnik-Schoneborn S, Zerres K, Ouvrier R, Stephani U, Bertini E (2002). Extended phenotype of SMA with respiratory distress type 1 (SMARD1).
    • Cree L, Brockington M, Keers S, Poppe M, Laval S, Muntoni F, Anderson L, Bushby K (2002). Gene expression analysis of dystrophic skeletal muscle.
    • Helbling-Leclerc A, Ben Yaou R, Demay L, Richard P, Eymard B, Urtizberea JA, Duboc D, Muntoni F, Wehnert M, Toniolo D, Merlini L, van der Kooi AJ, de Visser M, Recan D, Schwartz K, Bonne G (2002). Genetic and clinical spectrum of laminopathies.
    • Wallgren-Petterson C, Pelin K, Nowak K, Muntoni F, North K, Beggs A, Laing N (2002). Genotype-phenotype correlations in nemaline myopathy.
    • Blake DJ, Benson MA, Esapa CT, Kroger S, Brockington M, Muntoni F (2002). Golgi-localization of fukutin and fukutin-related protein: Implications for muscular dystrophy.
    • Bastianutto CB, Patarnello T, De Visser M, Muntoni F, Klamut HJ (2002). Identification of a new muscle specific enhancer in the human dystrophin gene, located within the deletion overlap of two XLDC patients.
    • Sewry CA, Brown SC, Torelli S, Feng L, Quinlivan R, Muntoni F (2002). Immunolabelling of neuronal nitric oxide synthase and caveolin 3 in developing human skeletal muscle.
    • Bonne G, Ben Yaou R, Becane HM, Demay L, Richard P, Urtizberea JA, Eymard B, Cuisset JM, Ferrer X, Penisson-Besnier I, Toutain A, Wehnert M, van der Kooi A, Muntoni F, de Visser M, Merlini L, Schwartz K, Duboc D, Bonne G (2002). Cardiac sudden death in laminopathies.
    • Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S, Guicheney P, Muntoni F, Merlini L (2002). Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul.Disord, 12(7-8), 631 - 638.
    • Mercuri E, Sewry C, Brown SC, Muntoni F (2002). Congenital muscular dystrophies. Semin Pediatr Neurol, 9(2), 120 - 131.
    • Muntoni F, Blake D, Brockington M, Brown S, Hayashi YK, Merlini L, Sabatelli P, Topaloglu H, Voit T, Guicheney P (2002). 85th ENMC International Workshop on Congenital Muscular Dystrophy - 6th International CMD Workshop - 1st Workshop of the Myo-Cluster Project 'GENRE' - 27-28th October 2000, Naarden, The Netherlands (vol 12, pg 69, 2002). NEUROMUSCULAR DISORD, 12(4), COVER4 - COVER4.
    • Muntoni F, Guicheney P (2002). 85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands. Neuromuscul.Disord, 12(1), 69 - 78.
    • Merlini L, Estournet-Mathiaud B, Iannaccone S, Melki J, Muntoni F, Rudnik-Schoneborn S, Topaloglu H, Vita G, Voit T (2002). 90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands. Neuromuscul.Disord, 12(2), 201 - 210.
    • Muntoni F, Bertini E, Bonnemann C, Brockington M, Brown S, Bushby K, Fiszman M, Korner C, Mercuri E, Merlini L, Hewitt J, Quijano-Roy S, Romero N, Squarzoni S, Sewry CA, Straub V, Topaloglu H, Haliloglu G, Voit T, Wewer U, Guicheney P (2002). 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands. Neuromuscul.Disord, 12(9), 889 - 896.
    • Bastianutto C, de Visser M, Muntoni F, Klamut HJ, Patarnello T (2002). A novel muscle-specific enhancer identified within the deletion overlap region of two XLDC patients lacking muscle exon 1 of the human dystrophin gene. Genomics, 80(6), 614 - 620.
    • Haliloglu G, Chattopadhyay A, Skorodis L, Manzur A, Renda Y, Muntoni F, Topaloglu H (2002). A novel variant of spinal muscular atrophy with progressive myoclonic epilepsy.
    • Kinali M, Mercuri E, Main M, Muntoni F, Dubowitz V (2002). An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy. Neuromuscul.Disord, 12 Suppl 1, S169 - S174.
    • Cohen N, Dunckley MG, Muntoni F, Gualandi F, Rimessi P, Ferlini A (2002). An intronic rearrangement of the dystrophin gene affecting tissue specific transcription and resulting in X-linked dilated cardiomyopathy.
    • Dincer P, Balci B, Yuva Y, Talim B, Brockington M, Dincel D, Gerceker FO, Haliloglu G, Atalay RC, Yakicier C, Muntoni F, Topaloglu H (2002). Autosomal recessive limb-girdle muscular dystrophy with severe mental retardation: a new phenotype with glycosylation defects of alpha-dystroglycan.
    • Muntoni F, Brockington M, Blake DJ, Torelli S, Sewry CA, Brown SC (2002). Disorders of glycosylation: an emerging group of muscular dystrophies.
    • Lampe AK, Leonard N, Johnson M, Brockington M, Muntoni F, Hastings L, Bushby K (2002). Ullrich-like congenital muscular dystrophy without linkage to collagen VI.
    • Pepe G, de Visser M, Bertini E, Bushby K, Vanegas OC, Chu ML, Lattanzi G, Merlini L, Muntoni F, Urtizberea A (2002). Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromuscul.Disord, 12(3), 296 - 305.
    • Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Yaou RB, Sabatelli P, Sewry C, Topaloglu H, van der KA (2002). Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul.Disord, 12(10), 984 - 993.
    • Van der Kooi AJ, De Voogt WG, Bertini E, Bushby K, Merlini L, Muntoni F, Talim B, Urtizberea JA, de Visser M (2002). Cardiac and pulmonary investigations in Bethlem myopathy.
    • Bonne G, Ben Yaou R, Demay L, Richard P, Eymard B, Urtizberea JA, Duboc D, Muntoni F, Wehnert M, Toniolo D, Merlini L, van der Kooi A, de Visser M, Recan D, Schwartz K, Bonne G (2002). Clinical analysis of 32 patients carrying R453W LMNA mutation.
    • Mercuri E, Brockington M, Brown S, Sewry C, Yuva Y, Kinali M, Manzur A, Torelli S, Dubowitz V, Muntoni F (2002). Clinical phenotype in patients with mutations in the fukutin-related protein (FKRP) gene.
    • Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F (2002). Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Neurology, 58(9), 1354 - 1359.
    • Muntoni F, Brockington M, Blake DJ, Torelli S, Brown SC (2002). Defective glycosylation in muscular dystrophy. Lancet, 360(9343), 1419 - 1421.
    • Romero NB, Quijano-Roy S, Estournet B, Brockington M, Many H, Ferreiro A, Barois A, Sabouraud P, Muntoni F, Richard P, Fardeau M, Guicheney P (2002). Deficiency of alpha-dystroglycan in skeletal muscle: clinical and genetic heterogeneity of 12 patients with early onset muscular dystrophy.
    • Greener MJ, Sewry CA, Muntoni F, Roberts RG (2002). The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss. Eur J Hum Genet, 10(7), 413 - 420.
    • Muntoni F, Mestroni L (2002). [Dilated cardiomyopathy: role of clinical and instrumental evaluation of the neuromuscular system]. Ital.Heart J Suppl, 3(4), 399 - 404.
    • Gualandi F, Trabanelli C, Rimessi P, Calzolari E, Muntoni F, Ferlini A (2002). The phenotype associated with dystrophin exon 5 in-frame deletions relies on a splicing abnormality causing exon 6 skipping.
    • Dubowitz V, Kinali M, Main M, Mercuri E, Muntoni F (2002). Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy. Eur J Paediatr Neurol, 6(3), 153 - 159.
    • Kinali M, Messina S, Mercuri E, Manzur AY, Dubowitz V, Muntoni F (2002). Spinal surgery is not always essential in management of scoliosis in Duchenne muscular dystrophy.
    • Haliloglu G, Chattopadhyay A, Skorodis L, Manzur A, Mercuri E, Talim B, Akcoren Z, Renda Y, Muntoni F, Topaloglu H (2002). Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. Neuropediatrics, 33(6), 314 - 319.
    • Brown SC, Torelli S, Brockington M, Jimenez C, Feng L, Sewry CA, Muntoni F (2002). The dystroglycan complex in patients with mutations in the gene encoding for fukutin-related protein (FKRP).

    2001

    • Muntoni F (2001). Is a muscle biopsy in Duchenne dystrophy really necessary?. Neurology, 57(4), 574 - 575.
    • Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F (2001). Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. The American Journal of Human Genetics, 69(6), 1198 - 1209. doi:10.1086/324412
    • Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet, 10(25), 2851 - 2859.
    • Brown SC, Muntoni F, Sewry CA (2001). Non-sarcolemmal muscular dystrophies. Brain Pathol, 11(2), 193 - 205.
    • Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F (2001). Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromuscul.Disord, 11(1), 35 - 40.
    • Skordis LA, Dunckley MG, Muntoni F (2001). Modification of RNA splicing in the survival motor neuron 2 (SMN2) gene as a therapeutic option in spinal muscular atrophy. NEUROMUSCULAR DISORD, 11(6-7), 646 - 646.
    • Taylor MRG, Brodsky G, Moss A, Muntoni F, Sinagra G, Di Lenarda A, Carniel E, Robinson M, Fain P, Mestroni L (2001). Molecular epidemiology of lamin A/C gene mutations in dilated cardiomyopathy. CIRCULATION, 104(17), 135 - 135.
    • Afifi A, Olpin SE, Dalton A, Leonard JV, Land J, Muntoni F, Lee PJ (2001). Mutation and biochemical analysis in carnitine palmitoyl transferase type II (CPTII) deficiency suggests complex genotype/phenotype interactions. J MED GENET, 38, S69 - S69.
    • Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Roy SQ, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P (2001). Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet, 29(1), 17 - 18.
    • Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C (2001). Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet, 29(1), 75 - 77.
    • Philpot J, Counsell S, Bydder G, Sewry CA, Dubowitz V, Muntoni F (2001). Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?. Neuromuscul.Disord, 11(5), 489 - 493.
    • Dodds E, Dunckley MG, Roberts RG, Muntoni F, Shaw CE (2001). Overexpressed human survival motor neurone isoforms, SMNDeltaexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution. FEBS Lett, 495(1-2), 31 - 38.
    • Kinali M, Mercuri E, Main M, Banks L, Higgins R, Manzur A, Muntoni F (2001). Pilot trial of salbutamol in spinal muscular atrophy. NEUROMUSCULAR DISORD, 11(6-7), 645 - 646.
    • Ferreiro A, Estournet B, Laroche C, Cabello A, Gutierrez E, Straub V, Goemans N, Jungbluth H, Muntoni F, Merlini L, Topaloglu H, Voit T, Fardeau M, Guicheney P (2001). Genetic characterisation of multi-minicore disease: identification of a first locus and evidence for genetic heterogeneity. NEUROMUSCULAR DISORD, 11(6-7), 622 - 622.
    • Blake DJ, Brockington M, Muntoni F, Benson MA (2001). Golgi-localisation of fukutin and fukutin-related protein: implications for muscular dystrophy. MOL BIOL CELL, 12, 85A - 85A.
    • Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Muller CR, Treves S (2001). Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet, 10(25), 2879 - 2887.
    • Moghadaszadeh B, Petit P, Jaillard C, Brockington M, Roy SQ, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P (2001). Identification of the gene causing congenital muscular dystrophy with early rigidity of the spine and restrictive respiratory syndrome (RSMD1). NEUROMUSCULAR DISORD, 11(6-7), 670 - 670.
    • Mohan U, Misra VP, Britto J, Muntoni F, King RHM, Thomas PK (2001). Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement. Neuromuscular Disorders, 11(4), 395 - 399.
    • Brodsky GL, Mestroni L, Muntoni F, Sewry C, Miocic S, Sinagra G (2001). Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement - Response. CIRCULATION, 103(4), E20 - E20.
    • Taylor MRG, Brodsky GL, Muntoni F, Sinagra G, Di Lenarda A, Robinson M, Fain P, Mestroni L (2001). Lamin A/C gene mutations in families with dilated cardiomyopathy, conduction system defects, and skeletal muscle disease. J AM COLL CARDIOL, 37(2), 194A - 194A.
    • Ruggieri V, Lubieniecki F, Meli F, Diaz D, Ferragut E, Saito K, Brockington M, Muntoni F, Fukuyama Y, Taratuto AL (2001). Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. Neuromuscul.Disord, 11(6-7), 570 - 578.
    • Bastianutto C, Bestard JA, Broere D, de Visser M, Ferlini A, Muntoni F, Patarnello T, Klamut HJ (2001). Dystrophin muscle enhancer 1 is implicated in the activation of nonmuscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. NEUROMUSCULAR DISORD, 11(6-7), 640 - 640.
    • Bastianutto C, Bestard JA, Lahnakoski K, Broere D, de Visser M, Zaccolo M, Pozzan T, Ferlini A, Muntoni F, Patarnello T, Klamut HJ (2001). Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. Hum Mol Genet, 10(23), 2627 - 2635.
    • Koutroulis G, Kinali M, Dawson D, Muntoni F, Nihoyannopoulos P (2001). Evaluation of left ventricular relaxation in patients affected with Duchenne muscular dystrophy using tissue Doppler imaging. EUR HEART J, 22, 412 - 412.
    • Mercuri E, Rutherford M, De Vile C, Counsell S, Sewry C, Brown S, Bydder G, Dubowitz V, Muntoni F (2001). Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. Neuromuscul.Disord, 11(3), 297 - 299.
    • Fisher I, Morgan J, Abraham D, Brittan H, Dunn M, Muntoni F (2001). Glucocorticoid-induced changes in the gene expression of dystrophic mouse muscle. Neuromuscular Disorders, 11(6-7), 663 - 663.
    • Skordis LA, Dunckley MG, Burglen L, Campbell L, Talbot K, Patel S, Melki J, Davies KE, Dubowitz V, Muntoni F (2001). Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA. Hum Genet, 108(4), 356 - 357.
    • Mercuri E, Kinali M, van der Poel LA, Jungbluth H, Brockington M, Sewry C, Brown SC, Muntoni F (2001). Clinical and muscle MRI findings in congenital muscular dystrophy with distal laxity. NEUROMUSCULAR DISORD, 11(6-7), 638 - 638.
    • Rees MI, Lewis TM, Vafa B, Ferrie C, Corry P, Muntoni F, Jungbluth H, Stephenson JB, Kerr M, Snell RG, Schofield PR, Owen MJ (2001). Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. Hum Genet, 109(3), 267 - 270.
    • Sinagra G, Di Lenarda A, Brodsky GL, Taylor MR, Muntoni F, Pinamonti B, Carniel E, Driussi M, Bristow MR, Mestroni L (2001). Current perspective new insights into the molecular basis of familial dilated cardiomyopathy. Ital.Heart J, 2(4), 280 - 286.
    • Brockington M, Prandini P, Brown SC, Sewry CA, Blake DJ, Muntoni F (2001). A new gene encoding a fukutin-like protein and its analysis in patients with congenital muscular dystrophy. NEUROMUSCULAR DISORD, 11(6-7), 635 - 635.
    • Jungbluth H, Sewry CA, Squier W, Newsom-Davies J, Buj-Bello A, Mercuri E, Manzur AY, Muntoni F (2001). Abnormal neuromuscular transmission in a case of myotubular (centronuclear) myopathy. NEUROMUSCULAR DISORD, 11(6-7), 625 - 625.
    • Sewry CA, Brown SC, Pelin K, Jungbluth H, Wallgren-Pettersson C, Labeit S, Manzur A, Muntoni F (2001). Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy. Neuromuscul.Disord, 11(2), 146 - 153.
    • Brown SC, Sewry CA, Brockington M, Muntoni F (2001). alpha-dystroglycan expression and secondary merosin deficiency. NEUROMUSCULAR DISORD, 11(6-7), 636 - 636.
    • Mercuri E, Muntoni F (2001). What's new in neuromuscular disorders? Nuclear envelope and Emery-Dreifuss muscular dystrophy. Eur J Paediatr Neurol, 5(1), 3 - 5.
    • Kinali M, Koutroulis G, Dawson D, Nihoyannopoulos P, Muntoni F (2001). Detection of early cardiac involvement in Duchenne muscular dystrophy using Tissue Doppler Imaging. NEUROMUSCULAR DISORD, 11(6-7), 639 - 639.
    • Koutroulis G, Kinali M, Dawson D, Muntoni F, Nihoyannopoulos P (2001). Detection of early myocardial involvement in Duchenne muscular Dystrophy using tissue Doppler derived myocardial velocity gradients. EUR HEART J, 22, 594 - 594.
    • Main M, Kairon H, Mercuri E, Muntoni F (2001). The Hammersmith functional motor scale for children with spinal muscular atrophy. NEUROMUSCULAR DISORD, 11(6-7), 646 - 646.
    • Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F (2001). Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol.Appl Neurobiol., 27(4), 281 - 290.
    • Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KM (2001). Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul.Disord, 11(1), 80 - 87.
    • Torelli S, Brown SC, Howman EV, Newey SE, Poon E, Davis KE, Muntoni F (2001). Syncoilin expression in neuromuscular disorders. NEUROMUSCULAR DISORD, 11(6-7), 629 - 629.
    • Howman EV, Poon E, Newey SE, Torelli S, Brown S, Hilton-Jones D, Squier W, Muntoni F, Davies KE (2001). Syncoilin expression in neuromuscular disorders.. AM J HUM GENET, 69(4), 638 - 638.
    • Ryley S, Mountford ST, Muntoni F, Campbell CM (2001). A complex karyotype involving stable dicentric chromosomes and a jumping translocation.. J MED GENET, 38, S50 - S50.
    • Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero N, Voit T, Sewry CA, Guicheney P, Muntoni F (2001). A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan.. AM J HUM GENET, 69(4), 229 - 229.
    • Cohen N, Dunckley MG, Rimessi P, Gualandi F, Ferlini A, Muntoni F (2001). An intronic mutation in the dystrophin gene causing X-linked dilated cardiomyopathy may indicate the presence of splicing regulatory motifs. NEUROMUSCULAR DISORD, 11(6-7), 639 - 640.

    2000

    • Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F (2000). Minicore myopathy in children: a clinical and histopathological study of 19 cases.. Neuromuscul Disord, 10(4-5), 264 - 273.
    • Brodsky GL, Muntoni F, Di Barletta MR, Miocic S, Sinagra G, Sewry C, Toniolo D, Mestroni L (2000). A lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. J AM COLL CARDIOL, 35(2), 202A - 202A.
    • Simonds AK, Ward S, Heather S, Bush A, Muntoni F (2000). Outcome of paediatric domiciliary mask ventilation in neuromuscular and skeletal disease.. Eur Respir J, 16(3), 476 - 481.
    • Sewry C, Ugo I, Manilal S, Feng L, Morris GE, Muntoni F, Brown SC (2000). Immunocytochemical expression of nuclear membrane proteins in skeletal muscle. BRAIN PATHOL, 10(4), 499 - 499.
    • Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L (2000). Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.. Circulation, 101(5), 473 - 476.
    • Crilley JG, Boehm EA, Rajagopalan B, Blamire AM, Styles P, Muntoni F, Hilton-Jones D, Clarke K (2000). Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy.. J Am Coll Cardiol, 36(6), 1953 - 1958.
    • Abbs S, Smith T, MacLeod M, Bobrow M, Mathew C, Muntoni F, Yau SC (2000). Dystrophin duplications: distribution, clinical significance, and somatic mosaicism.. AM J HUM GENET, 67(4), 249 - 249.
    • Yau S, MacLeod M, Hatton Z, Muntoni F, Mathew C, Abbs S (2000). Exploring the clinical significance of dystrophin duplications. J MED GENET, 37, S80 - S80.
    • Banks LM, Jaywant S, Higgins RN, Manzur AY, Dubowitz V, Muntoni F (2000). Duchenne muscular dystrophy: The effect of low dose intermittent steroids and the disease on bone mineral density levels. OSTEOPOROSIS INT, 11, 22 - 22.
    • Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F (2000). Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).. Neurology, 54(8), 1704 - 1705.
    • Banks LM, Jayawant S, Manzur AY, Higgins R, Dubowitz V, Muntoni F (2000). Effect of low dose steroids on bone mineral density in children with muscular dystrophy. OSTEOPOROSIS INT, 11, S52 - S52.
    • Jungbluth H, Manzur AY, Bydder G, Muntoni F (2000). Generalized calcification in a case of dermatomyositis.. Neuromuscul Disord, 10(2), 150 - .
    • Philpot J, Pennock J, Cowan F, Sewry CA, Dubowitz V, Bydder G, Muntoni F (2000). Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy.. Eur J Paediatr Neurol, 4(3), 109 - 114. doi:10.1053/ejpn.2000.0277
    • Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F (2000). Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.. Neuromuscul Disord, 10(8), 541 - 547.
    • Laing N, Knowak K, Durling H, North K, Nonaka I, Hutchinson D, von Kaisenberg C, Muntoni F, Pelin K, Wallgren-Pettersson C (2000). Actin and nemaline-related myopathy. BRAIN PATHOL, 10(4), 595 - 595.
    • Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F (2000). An unusual case of hyperekplexia.. Eur J Paediatr Neurol, 4(2), 77 - 80. doi:10.1053/ejpn.1999.0267
    • Brockington M, Sewry CA, Herrmann R, Naom I, Dearlove A, Rhodes M, Topaloglu H, Dubowitz V, Voit T, Muntoni F (2000). Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.. Am J Hum Genet, 66(2), 428 - 435. doi:10.1086/302775
    • Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG (2000). Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.. Eur J Hum Genet, 8(2), 87 - 94. doi:10.1038/sj.ejhg.5200415
    • Lattanzi G, Muntoni F, Sabatelli P, Squarzoni S, Maraldi NM, Cenni V, Villanova M, Columbaro M, Merlini L, Marmiroli S (2000). Unusual laminin alpha2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy.. Biochem Biophys Res Commun, 277(3), 639 - 642. doi:10.1006/bbrc.2000.3735
    • Bolland E, Manzur AY, Milward TM, Muntoni F (2000). Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing.. Eur J Paediatr Neurol, 4(2), 73 - 76. doi:10.1053/ejpn.2000.0266
    • Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F (2000). Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.. Ann Neurol, 48(2), 170 - 180.
    • Mercuri E, Sewry CA, Brown SC, Brockington M, Jungbluth H, DeVile C, Counsell S, Manzur A, Muntoni F (2000). Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?. Neuropediatrics, 31(4), 186 - 189.
    • Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalino H, Minassian BA (2000). X-linked vacuolar myopathies: two separate loci and refined genetic mapping.. Ann Neurol, 47(5), 666 - 669.
    • Mercuri E, Goodwin F, Sewry C, Dubowitz V, Muntoni F (2000). Diaphragmatic spinal muscular atrophy with bulbar weakness.. Eur J Paediatr Neurol, 4(2), 69 - 72. doi:10.1053/ejpn.1999.0265
    • Naom I, D'alessandro M, Sewry CA, Jardine P, Ferlini A, Moss T, Dubowitz V, Muntoni F (2000). Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.. Brain, 123 ( Pt 1), 31 - 41.

    1999

    • Mestroni L, Rocco C, Gregori D, Sinagra G, Di Lenarda A, Miocic S, Vatta M, Pinamonti B, Muntoni F, Caforio AL, McKenna WJ, Falaschi A, Giacca M, Camerini (1999). Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group.. J Am Coll Cardiol, 34(1), 181 - 190.
    • Lodi R, Kemp GJ, Muntoni F, Thompson CH, Rae C, Taylor J, Styles P, Taylor DJ (1999). Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy. An in vivo 31P magnetic resonance spectroscopy study.. Brain, 122 ( Pt 1), 121 - 130.
    • Torelli S, Ferlini A, Obici L, Sewry C, Muntoni F (1999). Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle.. Neuromuscul Disord, 9(8), 541 - 551.
    • Mestroni L, Rocco C, Gregori D, Sinagra G, Di Lenarda A, Miocic S, Vatta M, Pinamonti B, Muntoni F, Caforio A, McKenna WJ, Falaschi A, Giacca M, Camerini F, and HMDSG (1999). Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity.. Journal of the American College of Cardiology, 34, 181 - 190.
    • Manzati E, Bigoni S, Gualandi F, Scapoli C, Guarna M, Pini G, Zappella M, Muntoni F, Hajek G, Calzolari E, Ferlini A (1999). Genetic and transcription analysis in Rett syndrome.. AM J HUM GENET, 65(4), A478 - A478.
    • Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K (1999). Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.. Nat Genet, 21(3), 285 - 288. doi:10.1038/6799
    • Bonne G, Muchir A, Recan D, Becane HM, Urtizberea JA, Penisson-Besnier I, Muntoni F, Merlini L, Toniolo D, Duboc D, Fardeau M, Schwartz K (1999). Spectrum of mutations in lamin A/C gene implicated in a new form of dilated cardiomyopathy with conduction defects and muscular dystrophy. CIRCULATION, 100(18), 617 - 617.
    • Beckmann JS, Brown RH, Muntoni F, Urtizberea A, Bonnemann C, Bushby KM (1999). 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands.. Neuromuscul Disord, 9(6-7), 436 - 445.
    • Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B (1999). Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.. N Engl J Med, 341(23), 1715 - 1724. doi:10.1056/NEJM199912023412302
    • Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C (1999). Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.. Proc Natl Acad Sci U S A, 96(5), 2305 - 2310.
    • Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG (1999). Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.. Nat Genet, 23(2), 208 - 212. doi:10.1038/13837
    • Muntoni F, Ferlini A (1999). Paola Gobbi - 9 November 1966 23 February 1999 - Obituary. NEUROMUSCULAR DISORD, 9(6-7), 455 - 455.
    • Moghadaszadeh B, Topaloglu H, Merlini L, Muntoni F, Estournet B, Sewry C, Naom I, Barois A, Fardeau M, Tomé FM, Guicheney P (1999). Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.. Neuromuscul Disord, 9(6-7), 376 - 382.
    • Philpot J, Muntoni F (1999). Limitation of eye movement in merosin-deficient congenital muscular dystrophy.. Lancet, 353(9149), 297 - 298. doi:10.1016/S0140-6736(05)74929-1
    • Sewry CA, Muntoni F (1999). Inherited disorders of the extracellular matrix.. Curr Opin Neurol, 12(5), 519 - 526.
    • D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F (1999). Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?. Hum Genet, 105(4), 308 - 313.
    • Ferlini A, Patarnello T, Dunckley M, Muntoni F (1999). LINE1 element tails: a possible role in alternative splicing relevant for primates genome evolution?. AM J HUM GENET, 65(4), A186 - A186.
    • Philpot J, Cowan F, Pennock J, Sewry C, Dubowitz V, Bydder G, Muntoni F (1999). Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.. Neuromuscul Disord, 9(2), 81 - 85.
    • Mahjneh I, Bushby K, Anderson L, Muntoni F, Tolvanen-Mahjneh H, Bashir R, Pizzi A, Brockington M, Marconi G (1999). Merosin-positive congenital muscular dystrophy: a large inbred family.. Neuropediatrics, 30(1), 22 - 28. doi:10.1055/s-2007-973452
    • Gnecchi-Ruscone T, Taylor J, Mercuri E, Paternostro G, Pogue R, Bushby K, Sewry C, Muntoni F, Camici PG (1999). Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?. Muscle Nerve, 22(11), 1549 - 1556.
    • Wallgren-Pettersson C, Pelin K, Hilpelä P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A (1999). Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.. Neuromuscul Disord, 9(8), 564 - 572.
    • Muntoni F, Goodwin F, Sewry C, Cox P, Cowan F, Airaksinen E, Patel S, Ignatius J, Dubowitz V (1999). Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.. Neuropediatrics, 30(5), 243 - 248. doi:10.1055/s-2007-973498
    • Mercuri E, Gruter-Andrew J, Philpot J, Sewry C, Counsell S, Henderson S, Jensen A, Naom I, Bydder G, Dubowitz V, Muntoni F (1999). Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.. Neuromuscul Disord, 9(6-7), 383 - 387.
    • Wehnert M, Muntoni F (1999). 60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands.. Neuromuscul Disord, 9(2), 115 - 121.
    • Mestroni L, Miocic S, Sinagra G, Brodsky GL, Di Barletta MR, Mateddu A, Toniolo D, Muntoni F (1999). Autosomal dominant dilated cardiomyopathy with subclinical skeletal muscle involvement.. AM J HUM GENET, 65(4), A335 - A335.
    • Mercuri E, Poulton J, Buck J, Broadbent V, Bamford M, Jungbluth H, Manzur AY, Muntoni F (1999). Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A.. Arch Dis Child, 81(5), 442 - 443.
    • Ferlini A, Sewry C, Melis MA, Mateddu A, Muntoni F (1999). X-linked dilated cardiomyopathy and the dystrophin gene.. Neuromuscul Disord, 9(5), 339 - 346.
    • Noordeen MH, Haddad FS, Muntoni F, Gobbi P, Hollyer JS, Bentley G (1999). Blood loss in Duchenne muscular dystrophy: vascular smooth muscle dysfunction?. J Pediatr Orthop B, 8(3), 212 - 215.
    • Haddad F, Noordeen MHH, Muntoni F (1999). Blood Loss in Duchenne Muscular Dystrophy: A Vascular Smooth Muscle Phenomenon. Journal of Pediatric Orthopaedics, 9, 58 - 61.
    • Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F (1999). Charcot-Marie-Tooth disease type 2 and P0 gene mutations - Reply. NEUROLOGY, 52(5), 1111 - 1111.
    • Muntoni F, Ferlini A, Sewry C, Mateddu A, Marrosu G, Porcu M, Di Lenarda A, Sinagra G, Mestroni L (1999). Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned?. Cardiologia, 44 Suppl 1(Pt 1), 209 - 211.
    • Minassian BA, Auranen MP, Scherer SW, Villanova M, Muntoni F, Fardeau M, Kalimo H (1999). The gene for X-linked Vacuolated Myopathy (XVM), is located in a 14 cM span of Xq28.. AM J HUM GENET, 65(4), A436 - A436.
    • Philpot J, Bagnall A, King C, Dubowitz V, Muntoni F (1999). Feeding problems in merosin deficient congenital muscular dystrophy.. Arch Dis Child, 80(6), 542 - 547.

    1998

    • Melis MA, Muntoni F, Cau M, Loi D, Puddu A, Boccone L, Mateddu A, Cianchetti C, Cao A (1998). Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy.. Hum Mutat, Suppl 1, S137 - S138.
    • Lagae L, Muntoni F (1998). The Second Congress of the European Paediatric Neurology Society: Maastricht 8-11 October 1997.. Eur J Paediatr Neurol, 2(1), 61 - 64.
    • Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tomé FM, Guicheney P (1998). Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.. Am J Hum Genet, 62(6), 1439 - 1445. doi:10.1086/301882
    • Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Mayer M, Sewry C, Fardeau M, Tome FMS, Guicheney P (1998). Identification of a new locus for congenital muscular dystrophy with rigid spine syndrome to chromosome 1p35-36. EUR J HUM GENET, 6, 39 - 39.
    • Simonds AK, Muntoni F, Heather S, Fielding S (1998). Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy.. Thorax, 53(11), 949 - 952.
    • Cianchetti C, Marrosu MG, Muntoni F, Fratta A, Zuddas A (1998). Intraventricular alpha-interferon in subacute sclerosing panencephalitis.. Neurology, 50(1), 315 - 316.
    • Naom I, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, Muntoni F (1998). Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.. Neuromuscul Disord, 8(7), 495 - 501.
    • Marrosu MG, Murru MR, Costa G, Murru R, Muntoni F, Cucca F (1998). DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population.. Hum Mol Genet, 7(8), 1235 - 1237.
    • Taylor J, Sewry CA, Dubowitz V, Muntoni F (1998). Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression.. Neurology, 51(4), 1116 - 1120.
    • Muntoni F, Lichtarowicz-Krynska EJ, Sewry CA, Manilal S, Recan D, Llense S, Taylor J, Morris GE, Dubowitz V (1998). Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.. Neuromuscul Disord, 8(2), 72 - 76.
    • Melis MA, Cau M, Muntoni F, Mateddu A, Galanello R, Boccone L, Deidda F, Loi D, Cao A (1998). Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families.. Eur J Paediatr Neurol, 2(5), 255 - 261.
    • Spyrou N, Philpot J, Foale R, Camici PG, Muntoni F (1998). Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy.. Am Heart J, 136(3), 474 - 476.
    • Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F (1998). Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.. Neurology, 50(5), 1397 - 1401.
    • Muntoni F, Sewry CA (1998). Congenital muscular dystrophy: from rags to riches.. Neurology, 51(1), 14 - 16.
    • Ferlini A, Galié N, Merlini L, Sewry C, Branzi A, Muntoni F (1998). A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.. Am J Hum Genet, 63(2), 436 - 446. doi:10.1086/301952
    • Manzur AY, Sewry CA, Ziprin J, Dubowitz V, Muntoni F (1998). A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance.. Neuromuscul Disord, 8(7), 467 - 473.
    • Bushby K, Anderson LV, Pollitt C, Naom I, Muntoni F, Bindoff L (1998). Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.. Brain, 121 ( Pt 4), 581 - 588.
    • Muntoni F, Taylor J, Sewry CA, Naom I, Dubowitz V (1998). An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.. Eur J Paediatr Neurol, 2(1), 19 - 26.
    • Cau M, Cao A, Loi D, Puddu A, Muntoni F, Mateddu A, Melis MA (1998). Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.. Hum Mutat, 12(1), 70 - . doi:10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G
    • Mercuri E, Philpot J, Anker S, Sewry C, Dubowitz L, Muntoni F (1998). Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy. Pediatric Neurology, 18(5), 399 - 401.
    • Ferlini A, Muntoni F (1998). The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs.. Biochem Biophys Res Commun, 242(2), 401 - 406. doi:10.1006/bbrc.1997.7976
    • Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Llense S, Leturcq F, Deburgrave N, Barbot J, Man N, Muntoni F, Wehnert M, Kaplan J, Morris GE (1998). Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.. Hum Mol Genet, 7(5), 855 - 864.

    1997

    • Bushby K, Anderson LVB, Sewry C, Pogue R, Taylor J, Pollitt C, Muntoni F (1997). Dystrophinopathy or sarcoglycanopathy - the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy.. J MED GENET, 34, 522 - 522.
    • Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F (1997). Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.. J Med Genet, 34(2), 99 - 104.
    • Tyson J, Ellis D, Fairbrother U, King RH, Muntoni F, Jacobs J, Malcolm S, Harding AE, Thomas PK (1997). Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.. Brain, 120(1), 47 - 63.
    • Marrosu MG, Murru MR, Costa G, Cucca F, Sotgiu S, Rosati G, Muntoni F (1997). Multiple sclerosis in Sardinia is associated and in linkage disequilibrium with HLA-DR3 and -DR4 alleles.. Am J Hum Genet, 61(2), 454 - 457. doi:10.1016/S0002-9297(07)64074-9
    • Ferlini A, Muntoni F (1997). The dystrophin gene intron 11 has target sequences for mobile elements and one ORF transcribed in skeletal and heart muscle. AM J HUM GENET, 61(4), A170 - A170.
    • Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F (1997). A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.. Neurology, 48(2), 489 - 493.
    • Naom I, Sewry C, D'Alessandro M, Topaloglu H, Ferlini A, Wilson L, Dubowitz V, Muntoni F (1997). Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.. Neuromuscul Disord, 7(3), 176 - 179.
    • Talbot K, Rodrigues NR, Ignatius J, Muntoni F, Davies KE (1997). Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype.. Neuromuscul Disord, 7(3), 198 - 201.
    • Campbell L, Potter A, Ignatius J, Muntoni F, Dubowitz V, Davies KE (1997). Genotype/phenotype correlation in childhood autosomal recessive spinal muscular atrophy (SMA) by pulsed field gel analysis.. AM J HUM GENET, 61(4), A330 - A330.
    • Villanova M, Sewry C, Malandrini A, Toti P, Muntoni F, Merlini L, Torelli S, Tosi P, Maraldi NM, Guazzi GC (1997). Immunolocalization of several laminin chains in the normal human central and peripheral nervous system.. J Submicrosc Cytol Pathol, 29(3), 409 - 413.
    • Brockington M, Sewry C, Philpot J, Topaloglu H, Manheim I, Bushby K, Dubowitz V, Muntoni F (1997). Search for the defective gene(s) responsible for merosin-positive Congenital Muscular Dystrophy.. AM J HUM GENET, 61(4), A269 - A269.
    • Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, D'Alessandro M, Muntoni F, Dubowitz V (1997). Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.. Neuromuscul Disord, 7(2), 85 - 89.
    • Villanova M, Malandrini A, Sabatelli P, Sewry CA, Toti P, Torelli S, Six J, Scarfó G, Palma L, Muntoni F, Squarzoni S, Tosi P, Maraldi NM, Guazzi GC (1997). Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study.. Acta Neuropathol, 94(6), 567 - 571.
    • Muntoni F, Di Lenarda A, Porcu M, Sinagra G, Mateddu A, Marrosu G, Ferlini A, Cau M, Milasin J, Melis MA, Marrosu MG, Cianchetti C, Sanna A, Falaschi A, Camerini F, Giacca M, Mestroni L (1997). Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.. Heart, 78(6), 608 - 612.
    • Goodwin F, Muntoni F, Dubowitz V (1997). Epilepsy in Duchenne and Becker muscular dystrophies.. Eur J Paediatr Neurol, 1(4), 115 - 119.
    • Topaloglu H, Muntoni F, Dubowitz V, Sewry C (1997). Expression of HLA class I antigens in skeletal muscle is a diagnostic marker in juvenile dermatomyositis.. J Child Neurol, 12(1), 60 - 63.
    • Sewry CA, D'Alessandro M, Wilson LA, Sorokin LM, Naom I, Bruno S, Ferlini A, Dubowitz V, Muntoni F (1997). Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.. Neuropediatrics, 28(4), 217 - 222. doi:10.1055/s-2007-973703
    • Manilal S, Sewry CA, Man N, Muntoni F, Morris GE (1997). Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies.. Neuromuscul Disord, 7(1), 63 - 66.
    • Nigro G, Muntoni F (1997). 42nd ENMC Sponsored International Workshop: X-linked cardiomyopathies. 21-23 June 1996, Naarden, The Netherlands.. Neuromuscul Disord, 7(6-7), 397 - 403.
    • Sewry CA, Naom I, D'Alessandro M, Sorokin L, Bruno S, Wilson LA, Dubowitz V, Muntoni F (1997). Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.. Neuromuscul Disord, 7(3), 169 - 175.
    • GnecchiRuscone T, Paternostro G, Taylor J, Muntoni F, Camici PG (1997). Coronary flow reserve in muscle dystrophies.. CIRCULATION, 96(8), 540 - 540.
    • Lodi R, Muntoni F, Taylor J, Kumar S, Sewry CA, Blamire A, Styles P, Taylor DJ (1997). Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy.. Neuromuscul Disord, 7(8), 505 - 511.
    • Taylor J, Muntoni F, Dubowitz V, Sewry CA (1997). The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related.. Neuropathol Appl Neurobiol, 23(5), 399 - 405.
    • Paternostro G, Pagano D, Bonser RS, Muntoni F, Camici PG (1997). The GLUT-4 glucose transporter protein is reduced in the failing human heart. CIRCULATION, 96(8), 3510 - 3510.
    • Naom I, D'Alessandro M, Sewry C, Ferlini A, Topaloglu H, Helbling-Leclerc A, Guicheney P, Schwartz K, Akcoren Z, Dubowitz V, Muntoni F (1997). The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.. Hum Genet, 99(4), 535 - 540.
    • Taylor J, Muntoni F, Robb S, Dubowitz V, Sewry C (1997). Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?. Neuromuscul Disord, 7(4), 211 - 216.

    1996

    • Mestroni L, Muntoni F, Milasin J, DiLenarda A, Sinagra G, Rocco C, Vatta M, Matulic M, Falaschi A, Camerini F, Giacca M (1996). Familial dilated cardiomyopathy with subclinical skeletal muscle involvement. CIRCULATION, 94(8), 1582 - 1582.
    • Rodrigues NR, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, Davies KE (1996). Gene deletions in spinal muscular atrophy.. J Med Genet, 33(2), 93 - 96.
    • WallgrenPettersson C, Avela R, Marchand S, Kolehmainen J, Tahvanainen E, Hansen FJ, Muntoni F, Dubowitz V, deVisser M, vanLangen IM, Laing NG, Faure S, delaChapelle A (1996). A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. CYTOGENET CELL GENET, 73(4), 13 - 13.
    • Torelli S, Muntoni F (1996). Alternative splicing of dystrophin exon 4 in normal human muscle.. Hum Genet, 97(4), 521 - 523.
    • Mercuri E, Pennock J, Goodwin F, Sewry C, Cowan F, Dubowitz L, Dubowitz V, Muntoni F (1996). Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy.. Neuromuscul Disord, 6(6), 425 - 429.
    • Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M, Mastropaolo C (1996). Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap.. Brain Dev, 18(3), 185 - 191.
    • Sewry CA, Philpot J, Sorokin LM, Wilson LA, Naom I, Goodwin F, D'Alessandro M, Dubowitz V, Muntoni F (1996). Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy.. Lancet, 347(9001), 582 - 584.
    • Murru MR, Costa G, Murru R, Muntoni F, Marrosu MG (1996). A new allelic variant of HLA-DRB1*1101 (DRB1*11013) segregating in a Sardinian family.. Tissue Antigens, 48(5), 604 - 606.
    • Milasin J, Muntoni F, Severini GM, Bartoloni L, Vatta M, Krajinovic M, Mateddu A, Angelini C, Camerini F, Falaschi A, Mestroni L, Giacca M (1996). A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.. Hum Mol Genet, 5(1), 73 - 79.
    • Sewry CA, Taylor J, Anderson LV, Ozawa E, Pogue R, Piccolo F, Bushby K, Dubowitz V, Muntoni F (1996). Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.. Neuromuscul Disord, 6(6), 467 - 474.
    • Sewry CA, Naom I, D'Alessandro M, Ferlini A, Philpot J, Mercuri E, Dubowitz V, Muntoni F (1996). The protein defect in congenital muscular dystrophy.. Biochem Soc Trans, 24(2), 281S - .

    1995

    • Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V (1995). Expression of laminin subunits in congenital muscular dystrophy.. Neuromuscul Disord, 5(4), 307 - 316.
    • BREWSTER BS, HARLEY HG, MUNTONI F, DUBOWITZ V, HARPER PS, STRONG PN (1995). CHANGES IN THE LEVEL OF EXPRESSION OF A PROTEIN RELATED TO THE MYOTONIC-DYSTROPHY GENE AND THE CORRELATION OF EXPRESSION WITH THE SIZE OR CTG REPEAT EXPANSION. AM J HUM GENET, 57(4), 1367 - 1367.
    • Rapisarda R, Muntoni F, Gobbi P, Dubowitz V (1995). Duchenne muscular dystrophy presenting with failure to thrive.. Arch Dis Child, 72(5), 437 - 438.
    • Mercuri E, Muntoni F, Berardinelli A, Pennock J, Sewry C, Philpot J, Dubowitz V (1995). Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status.. Neuropediatrics, 26(1), 3 - 7. doi:10.1055/s-2007-979711
    • Philpot J, Muntoni F, Skellett S, Dubowitz V (1995). Congenital symmetrical weakness of the upper limbs resembling brachial plexus palsy: a possible sequel of drug toxicity in first trimester of pregnancy?. Neuromuscul Disord, 5(1), 67 - 69.
    • Helbling-Leclerc A, Topaloglu H, Tomé FM, Sewry C, Gyapay G, Naom I, Muntoni F, Dubowitz V, Barois A, Estournet B (1995). Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.. C R Acad Sci III, 318(12), 1245 - 1252.
    • Wallgren-Pettersson C, Avela K, Marchand S, Kolehmainen J, Tahvanainen E, Hansen FJ, Muntoni F, Dubowitz V, De Visser M, Van Langen IM (1995). A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis.. Neuromuscul Disord, 5(6), 441 - 443.
    • Muntoni F, Wilson L, Marrosu G, Marrosu MG, Cianchetti C, Mestroni L, Ganau A, Dubowitz V, Sewry C (1995). A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.. J Clin Invest, 96(2), 693 - 699. doi:10.1172/JCI118112
    • DUBOWITZ V, MERCURI E, MUNTONI F, PHILPOT J, SEWRY CA, SHORER Z (1995). PERIPHERAL AND CENTRAL-NERVOUS-SYSTEM INVOLVEMENT IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY. NEUROLOGY, 45(4), A407 - A407.
    • Mercuri E, Dubowitz L, Berardinelli A, Pennock J, Jongmans M, Henderson S, Muntoni F, Sewry C, Philpot J, Dubowitz V (1995). Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes.. Neuropediatrics, 26(3), 156 - 162. doi:10.1055/s-2007-979746
    • Muntoni F, Melis MA, Ganau A, Dubowitz V (1995). Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.. Am J Hum Genet, 56(1), 151 - 157.
    • WALLGRENPETERSSON C, AVELA K, MARCHAND S, HANSEN FJ, MUNTONI F, DEVISSER M, FAURE S, DELACHAPELLE A (1995). GENETIC NONALLELIC HETEROGENITY CONFIRMED IN NEMALINE (ROD) MYOPATHY. AM J HUM GENET, 57(4), 1177 - 1177.
    • Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Muntoni F, Kahn T, Unsöld R, Helliwell TR, Appleton R (1995). Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.. Neuropediatrics, 26(3), 148 - 155. doi:10.1055/s-2007-979745
    • MUNTONI F, FERLINI A, TORELLI S, SEWRY C (1995). DP71 CARDIAC EXPRESSION IN 2 FAMILIES WITH X-LINKED DILATED CARDIOMYOPATHY AND A DYSTROPHIN GENE MUTATION. AM J HUM GENET, 57(4), 1429 - 1429.
    • THEODOSIOU AM, RODRIGUES NR, TALBOT K, CAMPBELL L, NESBIT MA, OWEN N, AMBROSE H, MUNTONI F, PATEL S, IGNATIUS J, DUBOWITZ V, DAVIES KE (1995). MOLECULAR ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY. AM J HUM GENET, 57(4), 106 - 106.
    • Muntoni F, Sewry C, Wilson L, Angelini C, Trevisan CP, Brambati B, Dubowitz V (1995). Prenatal diagnosis in congenital muscular dystrophy.. Lancet, 345(8949), 591 - .
    • Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V (1995). Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy.. J Child Neurol, 10(6), 472 - 475.

    1994

    • Muntoni F, Catani G, Mateddu A, Rimoldi M, Congiu T, Faa G, Marrosu MG, Cianchetti C, Porcu M (1994). Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments.. Neuromuscul Disord, 4(3), 233 - 241.
    • CONGIA M, MUNTONI F, CUCCA F, FRAU F, LAMPIS R, PORCU S, SONGINI M, MUNTONI S (1994). HLA-DQB1, DQA1 AND DPB1 ALLELES IN SARDINIAN PATIENTS WITH INSULIN-DEPENDENT DIABETES-MELLITUS.
    • Muntoni F, Gobbi P, Sewry C, Sherratt T, Taylor J, Sandhu SK, Abbs S, Roberts R, Hodgson SV, Bobrow M (1994). Deletions in the 5' region of dystrophin and resulting phenotypes.. J Med Genet, 31(11), 843 - 847.
    • Porcu M, Muntoni F, Catani G, Mereu D (1994). Familial cardiac and skeletal myopathy associated with desmin accumulation.. Clin Cardiol, 17(5), 277 - 279.
    • Cianchetti C, Fratta AL, Muntoni F, Marrosu G, Marrosu MG (1994). Toxic effect of intraventricular interferon-alpha in subacute sclerosing panencephalitis.. Ital J Neurol Sci, 15(3), 153 - 155.
    • Muntoni F, Hird M, Simonds AK (1994). Preventive nasal ventilation in Duchenne muscular dystrophy.. Lancet, 344(8918), 340 - .
    • MUNTONI F (1994). X-LINKED DILATED CARDIOMYOPATHY (VOL 329, PG 921, 1993). NEW ENGL J MED, 330(5), 370 - 370.

    1993

    • Muntoni F, Mateddu A, Cianchetti C, Marrosu MG, Clerk A, Cau M, Congiu R, Cao A, Melis MA (1993). Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.. J Neurol Neurosurg Psychiatry, 56(1), 26 - 31.
    • Haegert DG, Muntoni F, Murru MR, Costa G, Francis GS, Marrosu MG (1993). HLA-DQA1 and -DQB1 associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups.. Neurology, 43(3 Pt 1), 548 - 552.
    • CUCCA F, CONGIA M, MUNTONI F, FRAU F, LAMPIS R, CLEMENTE MG, SILVETTI M, ANGIUS E, DEVIRGILIIS S, CAO A (1993). HLA CLASS-II GENES AND INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM) IN SARDINIA. AM J HUM GENET, 53(3), 789 - 789.
    • HAEGERT DG, MUNTONI F, MURRU MR, COSTA G, MARROSU MG, FRANCIS GS (1993). HLA AND MS - REPLY. NEUROLOGY, 43(11), 2427 - 2427.
    • Muntoni F, Mateddu A, Marchei F, Clerk A, Serra G (1993). Muscular weakness in the mdx mouse.. J Neurol Sci, 120(1), 71 - 77.
    • Cucca F, Muntoni F, Lampis R, Frau F, Cao A, De Virgiliis S, Congia M (1993). A novel HLA-DQB1 allele: evidence for gene conversion event promoted by chi-like sequence at DQB1 locus.. Tissue Antigens, 41(5), 263 - 266.
    • Muntoni F, Cau M, Congiu R, Congia M, Cao A, Melis MA (1993). Identification of a novel T-insertion polymorphism at the DMD locus.. Hum Genet, 92(1), 103 - .
    • Melis MA, Cau M, Congiu R, Puddu R, Muntoni F, Cao A (1993). Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.. Clin Genet, 43(5), 247 - 249.
    • CONGIA M, CUCCA F, FRAU F, LAMPIS R, CLEMENTE MG, MUNTONI F, FLORIS M, DEVIRGILIIS S, CAO A (1993). GENE-FREQUENCY AND MECHANISM OF GENERATION OF A NOVEL HLA-DQB1 ALLELE. AM J HUM GENET, 53(3), 1611 - 1611.
    • Marrosu MG, Muntoni F, Murru MR, Costa G, Congia M, Marrosu G, Aiello I, Pirastu M, Cianchetti C (1993). Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis.. Arch Neurol, 50(3), 256 - 260.
    • MUNTONI F (1993). THE USE OF MULTIPLE ANTI-DYSTROPHIN ANTIBODIES IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY - REPLY. J NEUROL NEUROSUR PS, 56(10), 1137 - 1138.
    • Muntoni F, Mateddu A, Cau M, Congiu R, Puddu R, Cossu P, Cao A, Melis MA (1993). Diagnosis of DMD carrier status in a family with no known affected males.. Dev Med Child Neurol, 35(1), 70 - 73.
    • Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S (1993). A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.. Eur J Hum Genet, 1(1), 80 - 87.
    • Clerk A, Muntoni F, Strong PN (1993). A dystrophin-immunoreactive protein in mammalian brain.. J Neurochem, 60(2), 435 - 441.
    • Cucca F, Muntoni F, Lampis R, Frau F, Argiolas L, Silvetti M, Angius E, Cao A, De Virgiliis S, Congia M (1993). Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia.. Hum Immunol, 37(2), 85 - 94.
    • Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A (1993). Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.. N Engl J Med, 329(13), 921 - 925. doi:10.1056/NEJM199309233291304

    1992

    • Muntoni F, Congia M, Cucca F, Cossu P, Porcu S, Frau F, Arnone M, Songini M, Muntoni S, Cao A (1992). The HLA DQB1*0502 allele is neutrally associated with insulin-dependent diabetes mellitus in the Sardinian population.. Tissue Antigens, 39(5), 262 - 265.
    • Congia M, Frau F, Lampis R, Frau R, Mele R, Cucca F, Muntoni F, Porcu S, Boi F, Contu L (1992). A high frequency of the A30, B18, DR3, DRw52, DQw2 extended haplotype in Sardinian celiac disease patients: further evidence that disease susceptibility is conferred by DQ A1*0501, B1*0201.. Tissue Antigens, 39(2), 78 - 83.
    • Muntoni F, Mateddu A, Marrosu MG, Cau M, Congiu R, Melis MA, Cao A, Cianchetti C (1992). Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.. Clin Genet, 42(1), 35 - 38.
    • MARROSU MG, MUNTONI F, MURRU MR, COSTA G, PISCHEDDA MP, PIRASTU M, SOTGIU S, ROSATI G, CIANCHETTI C (1992). HLA-DQB1 GENOTYPE IN SARDINIAN MULTIPLE-SCLEROSIS - EVIDENCE FOR A KEY ROLE OF DQB1 ASTERISK-0201 AND ASTERISK-0302 ALLELES. NEUROLOGY, 42(4), 883 - 886.
    • Cianchetti C, Muntoni F, Falchi AM, Nucaro A, Sannio-Fancello G, Cao A, Marrosu MG (1992). X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.. Am J Med Genet, 43(1-2), 475 - 478.
    • Marrosu MG, Muntoni F, Murru MR, Costa G, Pischedda MP, Pirastu M, Sotgiu S, Rosati G, Cianchetti C (1992). HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles.. Neurology, 42(4), 883 - 886.
    • Marrosu MG, Mazzoleni AP, Galantuomo S, Melis A, Muntoni F, Lai E (1992). Polymerase chain reaction analysis for specific HTLV-1 sequences from cerebrospinal fluid and peripheral blood cells in Sardinian multiple sclerosis patients.. Eur Neurol, 32(4), 195 - 198.
    • Torelli S, Sogos V, Ennas MG, Muntoni F, Clerk A, Strong PN, Gremo F (1992). Dystrophin immunoreactivity in normal and Duchenne human fetal neurons in culture.. J Neurosci Res, 32(1), 116 - 125. doi:10.1002/jnr.490320114

    1991

    • Muntoni F, Murru MR, Costa G, Congia M, Cucca F, Cossu P, Cao A, Dessalvi L, Pirastu M, Marrosu MG (1991). Different HLA DR2-DQw1 haplotypes in Sardinian and northern Italian populations: implications for multiple sclerosis susceptibility.. Tissue Antigens, 38(1), 34 - 36.
    • Muntoni F, Mateddu A, Serra G (1991). Passive avoidance behaviour deficit in the mdx mouse.. Neuromuscul Disord, 1(2), 121 - 123.
    • Muntoni F, Lampis R, Frau F, Argiolas L, Murru MR, Costa G, Congia M (1991). A PvuII RFLP at D6S114E locus in the HLA region (RING4 locus).. Nucleic Acids Res, 19(24), 6974 - .

    1990

    • Clerk A, Muntoni F, Strong P (1990). Dystrophin and dystrophin-like proteins in muscle and brain of normal and mdx mice.. Biochem Soc Trans, 18(3), 388 - 389.
    • CIANCHETTI C, MUNTONI F, FRATTA A, MARROSU MG (1990). IMMUNOLOGICAL PARAMETERS IN SUBACUTE SCLEROSING PANENCEPHALITIS AND THE EFFECT OF INTRAVENTRICULAR INTERFERON.

    1989

    • Muntoni F, Strong PN (1989). Transcription of the dystrophin gene in Duchenne muscular dystrophy muscle.. FEBS Lett, 252(1-2), 95 - 98.
    • Rodillo E, Noble-Jamieson CM, Aber V, Heckmatt JZ, Muntoni F, Dubowitz V (1989). Respiratory muscle training in Duchenne muscular dystrophy.. Arch Dis Child, 64(5), 736 - 738.

    1988

    • Marrosu MG, Muntoni F, Murru MR, Spinicci G, Pischedda MP, Goddi F, Cossu P, Pirastu M (1988). Sardinian multiple sclerosis is associated with HLA-DR4: a serologic and molecular analysis.. Neurology, 38(11), 1749 - 1753.

    1987

    • Fratta W, Collu M, Martellotta MC, Pichiri M, Muntoni F, Gessa GL (1987). Stress-induced insomnia: opioid-dopamine interactions.. Eur J Pharmacol, 142(3), 437 - 440.

    1986

    • Mereu G, Muntoni F, Calabresi P, Romani F, Boi V, Gessa GL (1986). Responsiveness to 'autoreceptor' doses of apomorphine inversely correlated with the firing rate of dopaminergic A9 neurons: action of baclofen.. Neurosci Lett, 65(2), 161 - 166.

    1985

    • Gessa GL, Muntoni F, Collu M, Vargiu L, Mereu G (1985). Low doses of ethanol activate dopaminergic neurons in the ventral tegmental area.. Brain Res, 348(1), 201 - 203.

    • Jaffer F, Reilly MM, Quinlivan R , Muntoni F, Orrell R, Wraige E, Radunovic A, Mummery C, Hanna MG (). Avoiding unplanned admissions in patients with neuromuscular diseases: a regional collaborative audit of hospital admissions 2009-2011.