Targeting RNA to treat neuromuscular disease. by Muntoni, F, Wood, M

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients by Godfrey, C, Clement, E, Abbs, S, Muntoni, F

Dystroglycanopathies: coming into focus by Godfrey, C, Foley, A, Clement, E, Muntoni, F

Syncoilin expression in neuromuscular disorders by Torelli, S, Brown, S, Howman, E, Newey, S, Poon, E, Davis, K, Muntoni, F

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. by James, P, Cader, M, Muntoni, F, Childs, A, Crow, Y, Talbot, K

A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment by Horton, RH, Saade, D, Markati, T, Harriss, E, Bönnemann, CG, Muntoni, F, Servais, L

Correlation of utrophin levels with the dystrophin protein complex and muscle fibre regeneration in Duchenne and Becker muscular dystrophy muscle biopsies by Janghra, N, Morgan, J, Sewry, C, Wilson, F, Davies, K, Muntoni, F, Tinsley, J

Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic largemyd mouse by Ross, J, Benn, A, Jonuschies, J, Boldrin, L, Muntoni, F, Hewitt, J, Brown, S, Morgan, J

Syncoilin expression in neuromuscular disorders. by Howman, E, Poon, E, Newey, S, Torelli, S, Brown, S, Hilton-Jones, D, Squier, W, Muntoni, F, Davies, K

A phase 1b trial to assess the pharmacokinetics of ezutromid in pediatric duchenne muscular dystrophy patients on a balanced diet by Muntoni, F, Tejura, B, Spinty, S, Roper, H, Hughes, I, Layton, G, Davies, K, Harriman, S, Tinsley, J

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. by Jephson, C, Mills, N, Pitt, M, Beeson, D, Aloysius, A, Muntoni, F, Robb, SA, Bailey, C

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR. by Ealing, J, Webster, R, Brownlow, S, Abdelgany, A, Oosterhuis, H, Muntoni, F, Vaux, D, Vincent, A, Beeson, D

Syncoilin upregulation in muscle of patients with neuromuscular disease. by Brown, S, Torelli, S, Ugo, I, De Biasia, F, Howman, E, Poon, E, Britton, J, Davies, K, Muntoni, F

Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy. by Crilley, J, Boehm, E, Rajagopalan, B, Blamire, A, Styles, P, Muntoni, F, Hilton-Jones, D, Clarke, K

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA. by Skordis, L, Dunckley, MG, Burglen, L, Campbell, L, Talbot, K, Patel, S, Melki, J, Davies, K, Dubowitz, V, Muntoni, F

THE CLINICAL PHENOTYPIC SPECTRUM OF GFPT1 ASSOCIATED CONGENITAL MYASTHENIC SYNDROME by Chaouch, A, Mueller, J, Guergueltcheva, V, Muntoni, F, Bushby, K, Straub, V, Palace, J, Beeson, D, Abicht, A, Lochmuller, H

Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008 by Clement, E, Feng, L, Mein, R, Sewry, C, Robb, SA, Manzur, A, Mercuri, E, Godfrey, C, Cullup, T, Abbs, S, Muntoni, F

Emergency neuromuscular admissions are avoidable: a regional audit of unplanned hospital admissions of neuromuscular patients 2009-2011: final results and recommendations. by Jaffer, F, Reilly, M, Quinlivan, R, Muntoni, F, Turner, C, Parton, M, Lunn, M, Hilton-Jones, D, Korkodilos, M, Hanna, MG

Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. by Bastianutto, C, Bestard, J, Lahnakoski, K, Broere, D, De Visser, M, Zaccolo, M, Pozzan, T, Ferlini, A, Muntoni, F, Patarnello, T, Klamut, H

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. by Burke, G, Hiscock, A, Klein, A, Niks, E, Main, M, Manzur, A, Ng, J, de Vile, C, Muntoni, F, Beeson, D, Robb, S