Recent Publications
- Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. V Ricotti, DA Ridout, E Scott, R Quinlivan, SA Robb, AY Manzur, F Muntoni, on behalf of the NorthStar Clinical Network. J Neurol Neurosurg Psychiatry Published Online First: 18 December 2012
- Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Burke G, Hiscock A, Klein A, Niks EH, Main M, Manzur AY, Ng J, de Vile C, Muntoni F, Beeson D, Robb S. Neuromuscul Disord. 2012 Dec 4
- Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen. Anthony K, Feng L, Arechavala-Gomeza V, Guglieri M, Straub V, Bushby K, Cirak S, Morgan J, Muntoni F. Hum Gene Ther Methods. 2012 Oct;23(5):336-45.
- Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H. Am J Hum Genet. 2012 Oct 5;91(4):672-84
- Exon 45 Skipping Through U1-snRNA Antisense Molecules Recovers the Dys-nNOS Pathway and Muscle Differentiation in Human DMD Myoblasts. Cazzella V, Martone J, Pinnarò C, Santini T, Twayana SS, Sthandier O, D'Amico A, Ricotti V, Bertini E, Muntoni F, Bozzoni I. Mol Ther. 2012 Nov;20(11):2134-42.
- Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic Large(myd) mouse. Ross J, Benn A, Jonuschies J, Boldrin L, Muntoni F, Hewitt JE, Brown SC, Morgan JE. Stem Cells. 2012 Oct;30(10):2330-41.
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.
Mahjneh I, Lochmüller H, Muntoni F, Abicht A.Neuromuscul Disord. 2012 Aug 9
- The ever-expanding spectrum of congenital muscular dystrophies. Mercuri E, Muntoni F. Ann Neurol. 2012 Jul;72(1):9-17. doi: 10.1002/ana.23548.
- Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement. 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. Neuromuscul Disord. 2012 Jul 9. [Epub ahead of print]
- Correspondence: Measuring dystrophin-faster is not necessarily better. Arechavala-Gomeza V, Feng L, Morgan JE, Muntoni F. Nat Rev Neurol. 2012 Jul 10. doi: 10.1038/nrneurol.2012.15-c1. [Epub ahead of print] No abstract available
- Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 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. Brain. 2012 Jun 26. [Epub ahead of print]
- BAG3 mutations: another cause of giant axonal neuropathy. Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. J Peripher Nerv Syst. 2012 Jun;17(2):210-216. doi: 10.1111/j.1529-8027.2012.00409.x
- Donor Satellite Cell Engraftment is Significantly Augmented When the Host Niche is Preserved and Endogenous Satellite Cells are Incapacitated. Boldrin L, Neal A, Zammit PS, Muntoni F, Morgan JE. Stem Cells. 2012 Jun 21. doi: 10.1002/stem.1158. [Epub ahead of print]
- Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. 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. Neuromuscul Disord. 2012 Aug;22(8):685-9. Epub 2012 Jun 22.
- Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy.Garralda ME, McConachie H, Le Couteur A, Sriranjan S, Chakrabarti I, Cirak S, Guglieri M, Bushby K, Muntoni F.Child Care Health Dev. 2012
- Antisense oligonucleotide-mediated exon skipping for duchenne muscular dystrophy: progress and challenges. Arexhavala-Gomeza V, Anthony K, Morgan J, Muntoni F. Curr Gene Ther. 2012 Jun 1;12(3):152-60.
- Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. BurnsJ.Ouvrier R, Estilow T, Shy R, Laura' M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Ascadi G, Shy ME, Finkel RS. ANN Neurol. 2012; 71(5):642-52
- ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.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. Nat Genet. 2012;April
- Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008. Clement EM, Feng L, Mein R, Sewry CA, Robb SA, Manzur AY, Mercuri E, Godfrey C, Cullup T, Abbs S, Muntoni F. Neuromuscul Disord. 2012 Apr 3. [Epub ahead of print]
- Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 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. Hum Mutat. 2012 Feb 21. doi: 10.1002/humu.22056. [Epub ahead of print]
- Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 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. Neurology. 2012 Mar 28. [Epub ahead of print
- The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A. BMMed Genet. 2012 Mar 28;13:20.
- Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. 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. Neurology. 2012 Apr 3;78(14):1100-3. Epub 2012 Mar 21.
- Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Eichinger K, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Clin Biomech (Bristol, Avon). 2012 Mar 15. [Epub ahead of print]
- Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. Davidson GL, Murphy SM, Polke JM, Laura M, Salih MA, Muntoni https://www.ucl.ac.uk/ich/research-ich/dubowitz/recent-publications/index/edit/tab_edit_make_copyF, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn MP, Manji H, Davis MB, Houlden H, Reilly MM. J Neurol. 2012 Feb 1. [Epub ahead of print]
- Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. 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. Am J Hum Genet. 2012 Feb 10;90(2):201-16.
- 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. Neuromuscul Disord. 2012 May;22(5):453-62.
- Multiple exon skipping strategies to by-pass dystrophin mutations. Adkin CF, Meloni PL, Fletcher S, Adams AM, Muntoni F, Wong B, Wilton SD. Neuromuscul Disord. 2012 Apr;22(4):297-305.
- Core myopathies. Jungbluth H, Sewry CA, Muntoni. Semin Pediatr Neurol. 2011 Dec;18(4):239-49.
- X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10. Trump N, Cullup T, Verheij JB, Manzur A, Muntoni F, Abbs S, Jungbluth H. Neuromuscul Disord. 2012 May;22(5):384-8.
- Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. 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. Brain. 2011 Dec;134(Pt 12):3547-59.
- Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, 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. Nat Genet. 2011 Nov 20;43(12):1189-92.
- Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. Cirak S, Feng L, Anthony K, Arechavala-Gomeza V, Torelli S, Sewry C, Morgan JE, Muntoni F. Mol Ther. 2012 Feb;20(2):462-7.
- Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Kim J, Jimenez-Mallebrera C, Foley AR, Fernandez-Fuente M, Brown SC, Torelli S, Feng L, Sewry CA, Muntoni F. Neuromuscul Disord. 2012 Feb;22(2):139-48.
- Emotional impact of a paediatric exon-skipping therapy trial. Garralda ME, Kinali M, Cirak S, Bushby K, Guglieri M, Straub V, Muntoni F. Dev Med Child Neurol. 2011 Dec;53(12):1157-9.
- Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders. 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. Skelet Muscle. 2011 Nov 1;1:34.
- Clinical utility gene card for: Multi-minicore disease. Lillis S, Abbs S, Ferreiro A, Muntoni F, Jungbluth H. Eur J Hum Genet. 2012 Feb;20(2)
- Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients. Godfrey C, Clement E, Abbs S, Muntoni F. Muscle Nerve. 2011 Sep;44(3):388-92
- Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. 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. J Neurol. 2011 Oct 6. [Epub ahead of print]
- Development of a Functional Assessment Scale for Ambulatory Boys with Duchenne Muscular Dystrophy. Scott E, Eagle M, Mayhew A, Freeman J, Main M, Sheehan J, Manzur A, Muntoni F; The North Star Clinical Network for Paediatric Neuromuscular Disease. Physiother Res Int. 2011 Sep 23. doi: 10.1002/pri.520. [Epub ahead of print]
- Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy. Tosetti M, Linsalata S, Battini R, Volpi L, Cini C, Presciutti O, Muntoni F, Cioni G, Siciliano G. Muscle Nerve. 2011 Nov;44(5):816-9.
- Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. 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. J Med Genet. 2011 Oct;48(10):660-8.
- Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F. Arch Neurol. 2011 Sep;68(9):1171-9.
- Fukutin-related protein alters the deposition of laminin in the eye and brain. Ackroyd MR, Whitmore C, Prior S, Kaluarachchi M, Nikolic M, Mayer U, Muntoni F, Brown SC. J Neurosci. 2011 Sep 7;31(36):12927-35.
- Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Muntoni F, Torelli S, Wells DJ, Brown SC. Curr Opin Neurol. 2011 Oct;24(5):437-42.
- Targeting RNA to treat neuromuscular disease. Muntoni F, Wood MJ. Nat Rev Drug Discov. 2011 Aug 1;10(8):621-37.
- 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. 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. Lancet. 2011 Aug 13;378(9791):595-605.
- SEPN1-related myopathies: clinical course in a large cohort of patients. 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. Neurology. 2011 Jun 14;76(24):2073-8.
- 173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands. Bönnemann CG, Rutkowski A, Mercuri E, Muntoni F; CMD Outcomes Consortium. Neuromuscul Disord. 2011 Jul;21(7):513-22.
- Design principles for bifunctional targeted oligonucleotide enhancers of splicing. Owen N, Zhou H, Malygin AA, Sangha J, Smith LD, Muntoni F, Eperon IC. Nucleic Acids Res. 2011 Sep 1;39(16):7194-208.
- Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. 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.
- Assessing upper limb function in nonambulant SMA patients: development of a new module. 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. Neuromuscul Disord. 2011 Jun;21(6):406-12.
- Muscle histology vs MRI in Duchenne muscular dystrophy. 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. Neurology. 2011 Jan 25;76(4):346-53.
- Stridor as a neonatal presentation of skeletal muscle sodium channelopathy. Matthews E, Manzur AY, Sud R, Muntoni F, Hanna MG. Arch Neurol. 2011 Jan;68(1):127-9.
- Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle. Brockington M, Torelli S, Sharp PS, Liu K, Cirak S, Brown SC, Wells DJ, Muntoni F. PLoS One. 2010 Dec 28;5(12):e14434.
- Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Mayhew A, Cano S, Scott E, Eagle M, Bushby K, Muntoni F; North Star Clinical Network for Paediatric Neuromuscular Disease. Dev Med Child Neurol. 2011 Jun;53(6):535-42.
- Contribution of human muscle-derived cells to skeletal muscle regeneration in dystrophic host mice. Meng J, Adkin CF, Xu SW, Muntoni F, Morgan JE. PLoS One. 2011 Mar 9;6(3):e17454.
- Dystroglycanopathies: coming into focus.Godfrey C, Foley AR, Clement E, Muntoni F. Curr Opin Genet Dev. 2011 Jun;21(3):278-85. Epub 2011 Mar 11. Review.
- A dystroglycan mutation associated with limb-girdle muscular dystrophy. 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.N Engl J Med. 2011 Mar 10;364(10):939-46.
- The multiple phenotypes of Arthrogryposis multiplex congenita with reference to the neurogenic variant. Ambegaonkar G, Manzur AY, Robb SA, Kinali M, Muntoni F. Eur J Paediatr Neurol. 2011 Jul;15(4):316-9. Epub 2011 Feb 22.
- Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Lin YY, White RJ, Torelli own SC, Wells DJ, Muntoni F. PLoS One. 2010 Dec 28;5(12):e14434.
- Dystrophin and the brain. Ricotti V, Roberts RG, Muntoni F. Dev Med Child Neurol. 2011 Jan;53(1):12
- Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice. Malerba A, Sharp PS, Graham IR, Arechavala-Gomeza V, Foster K, Muntoni F, Wells DJ, Dickson G. Mol Ther. 2011 Feb;19(2):345-54.
- 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. 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. Hum Mol Genet. 2011 Feb 1;20(3):589-600.
- Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. 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. J Clin Invest. 2010 Dec;120(12):4220-35.
- Consensus statement on standard of care for congenital muscular dystrophies. 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. J Child Neurol. 2010 Dec;25(12):1559-81.
- Stem cells to treat muscular dystrophies - where are we? Meng J, Muntoni F, Morgan JE. Neuromuscul Disord. 2011 Jan;21(1):4-12.
- The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. Lu QL, Yokota T, Takeda S, Garcia L, Muntoni F, Partridge T.Mol Ther. 2011 Jan;19(1):9-15
- Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. 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. Neuromuscul Disord. 2011 Jan;21(1):20-30.
- Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT. Brain. 2011 Jan;134(Pt 1):143-56.
- Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. 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. Neuromuscul Disord. 2010 Dec;20(12):796-800.
- 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Reilly MM, Shy ME, Muntoni F, Pareyson D. Neuromuscul Disord. 2010 Dec;20(12):839-46.
- Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK. Robb SA, Muntoni F, Simonds AK. Neuromuscul Disord. 2010 Dec;20(12):833-8.
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