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Prof Francesco Muntoni

Research Summary

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

Recent Publications

Displaying 50 most recent publications. For the full list please visit UCL Discovery

  1. 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. 10.1016/j.ajhg.2013.04.018.
  2. 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. 10.1016/j.nmd.2012.11.004.
  3. Mahjneh I,Lochmüller H,Muntoni F,Abicht A (2013) DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy. Neuromuscul Disord, 23(1), 36 - 42. 10.1016/j.nmd.2012.06.355.
  4. Mercuri E,Muntoni F (2013) Muscular dystrophies. Lancet. 10.1016/S0140-6736(12)61897-2.
  5. 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. 10.1016/j.ajhg.2013.01.016.
  6. 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. 10.1111/j.1365-2214.2012.01387.x.
  7. 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. 10.1371/journal.pone.0062114.
  8. 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. 10.1002/humu.22342.
  9. 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. 10.1002/humu.22326.
  10. 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. 10.1016/j.nmd.2013.02.012.
  11. 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. 10.1016/j.nmd.2013.01.004.
  12. 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. 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec.
  13. 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. 10.1007/s00415-012-6817-7.
  14. 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. 10.1089/hum.2012.211.
  15. 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. 10.1093/brain/aws312.
  16. 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. 10.1212/WNL.0b013e31827f0f66.
  17. 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. 10.1016/j.nmd.2013.03.008.
  18. 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. 10.1212/WNL.0b013e31824e8ebe.
  19. Ricotti V,Mandy WPL,Robb SA,Skuse DH,Muntoni F (2012) Neurobehavioural disorders in Duchenne Muscular dystrophy NEUROMUSCULAR DISORDERS, 22, S10 - S10.
  20. 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. 10.1016/j.nmd.2012.01.010.
  21. 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 NEUROMUSCULAR DISORDERS, 22, S32 - S32.
  22. Mercuri E,Muntoni F (2012) The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol, 72(1), 9 - 17. 10.1002/ana.23548.
  23. 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. 10.1002/humu.22136.
  24. 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. 10.1002/humu.22056.
  25. 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 NEUROMUSCULAR DISORDERS, 22(9-10), 893 - 893. 10.1016/j.nmd.2012.06.296.
  26. 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). 10.1038/ejhg.2011.180.
  27. 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.
  28. Munteanu I,Zhou H,Hargreaves I,Yasukawa T,Duchen MR,Muntoni F (2012) Investigating mitochondria in cell culture models of core myopathies NEUROMUSCULAR DISORDERS, 22, S30 - S30.
  29. 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 NEUROMUSCULAR DISORDERS, 22, S7 - S7.
  30. Arechavala-Gomeza V,Feng L,Morgan JE,Muntoni F (2012) Correspondence: Measuring dystrophin-faster is not necessarily better. Nat Rev Neurol, 8(8), 469. 10.1038/nrneurol.2012.15-c1.
  31. 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 NEUROMUSCULAR DISORDERS, 22, S31 - S31.
  32. Ross J,Benn A,Jonuschies J,Boldrin L,Muntoni F,Hewitt JE,Brown SC,Morgan JE (2012) Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic largemyd mouse Stem Cells, 30(10), 2330 - 2341.
  33. Main M,Hiscock A,Muntoni F (2012) Dislocating patellae in children with CMT1a NEUROMUSCULAR DISORDERS, 22(9-10), 869 - 869. 10.1016/j.nmd.2012.06.220.
  34. 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. 10.1002/stem.1158.
  35. 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. 10.1093/brain/aws161.
  36. 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.
  37. 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. 10.1089/hgtb.2012.117.
  38. 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. 10.1016/S0140-6736(12)60064-6.
  39. 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 NEUROMUSCULAR DISORDERS, 22, S11 - S11.
  40. 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. 10.1007/s00415-011-6397-y.
  41. 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 NEUROMUSCULAR DISORDERS, 22, S19 - S20.
  42. 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 NEUROMUSCULAR DISORDERS, 22, S28 - S29.
  43. 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 NEUROMUSCULAR DISORDERS, 22, S4 - S4.
  44. Zhou H,Janghra N,Anthony K,Morgan J,Muntoni F (2012) A morpholino antisense oligonucleotide rescues type I and type III SMA mice NEUROMUSCULAR DISORDERS, 22, S32 - S32.
  45. 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. 10.1056/NEJMoa1110296.
  46. 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.
  47. 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 NEUROMUSCULAR DISORDERS, 22, S14 - S14.
  48. Jonuschies J,Boldrin L,Thrasher A,Muntoni F,Morgan J (2012) Assessment of potential promoters for lentiviral gene therapy in DMD NEUROMUSCULAR DISORDERS, 22, S8 - S8.
  49. 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. 10.1111/j.1529-8027.2012.00409.x.
  50. 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 NEUROMUSCULAR DISORDERS, 22(9-10), 862 - 862. 10.1016/j.nmd.2012.06.196.

Qualifications

  • 1984: Doctor of Medicine, Universita degli Studi di Cagliari

Keywords

  • Anti-sense and morpholino approaches
  • Cell culture
  • Cell transplantation
  • Clinical trials
  • Congenital disorders of cerebral cortical development
  • Disorders of striated muscle
  • Fluorescence microscopy techniques
  • Gene expression
  • Gene expression profiling - tissue level
  • Genetic manipulation (including knockout/knockin)
  • Genetic screens
  • Genetically encoded reporters/indicators
  • Genetics
  • Genomic analyses
  • Histology
  • Immunohistochemistry
  • Light microscopic techniques
  • Linkage, mapping and positional cloning
  • Muscular dystrophy
  • Neuropathology
  • Neurophysiology
  • Paediatric neurology, neuromuscular disease
  • Transgenic mice