186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands. by Chaouch, A, Beeson, D, Hantaï, D, Lochmüller, H

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. by Beeson, D, Hantaï, D, Lochmüller, H, Engel, A

186th ENMC International Workshop: Congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands by Chaouch, A, Beeson, D, Hantaï, D, Lochmüller, H

MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and nati... by Turner, C, Hilton-Jones, D, Lochmüller, H, Hanna, MG

MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and nati... by Turner, C, Hilton-Jones, D, Lochmüller, H, Hanna, MG

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface by Webster, R, Liu, W, Chaouch, A, Lochmüller, H, Beeson, D

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface. by Webster, R, Liu, W, Chaouch, A, Lochmüller, H, Beeson, D

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR by Zoltowska, K, Webster, R, Finlayson, S, Maxwell, S, Cossins, J, Müller, J, Lochmüller, H, Beeson, D

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era by Thompson, R, Abicht, A, Beeson, D, Engel, A, Eymard, B, Maxime, E, Lochmüller, H

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR. by Zoltowska, K, Webster, R, Finlayson, S, Maxwell, S, Cossins, J, Müller, J, Lochmüller, H, Beeson, D

Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes. by Larochelle, N, Stucka, R, Rieger, N, Schermelleh, L, Schiedner, G, Kochanek, S, Wolf, E, Lochmüller, H

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

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. by Mutsaers, C, Wishart, T, Lamont, D, Riessland, M, Schreml, J, Comley, L, Murray, L, Parson, S, Lochmüller, H, Wirth, B, Talbot, K, Gillingwater, T

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder by Muller, J, Burke, G, Cossins, J, Richard, P, Baumeister, S, Stucka, R, Eymard, B, Hantai, D, Beeson, D, Lochmuller, H, Abicht, A

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. by Müller, J, Abicht, A, Burke, G, Cossins, J, Richard, P, Baumeister, S, Stucka, R, Eymard, B, Hantaï, D, Beeson, D, Lochmüller, H

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. by Müller, J, Baumeister, S, Schara, U, Cossins, J, Krause, S, von der Hagen, M, Huebner, A, Webster, R, Beeson, D, Lochmüller, H, Abicht, A

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. by Sarkozy, A, Windpassinger, C, Hudson, J, Dougan, C, Lecky, B, Hilton-Jones, D, Eagle, M, Charlton, R, Barresi, R, Lochmüller, H, Bushby, K, Straub, V

Comprehensive RNA-sequencing analysis in serum and muscle reveals novel small RNA signatures with biomarker potential for DMD by Coenen-Stass, AML, Sork, H, Gatto, S, Godfrey, C, Bhomra, A, Krjutškov, K, Hart, JR, Westholm, JO, O'Donovan, L, Roos, A, Lochmüller, H, Puri, PL, Andaloussi, S, Wood, MJA, Roberts, TC

Dok-7 mutations underlie a neuromuscular junction synaptopathy. by Beeson, D, Higuchi, O, Palace, J, Cossins, J, Spearman, H, Maxwell, S, Newsom-Davis, J, Burke, G, Fawcett, P, Motomura, M, Müller, J, Lochmüller, H, Slater, C, Vincent, A, Yamanashi, Y

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 by Cossins, J, Belaya, K, Hicks, D, Salih, M, Finlayson, S, Carboni, N, Liu, W, Maxwell, S, Zoltowska, K, Farsani, G, Laval, S, Seidhamed, M, Donnelly, P, Bentley, D, McGowan, S, Müller, J, Palace, J, Lochmüller, H, Beeson, D