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Efficacy and safety of rozanolixizumab in moderate-to-severe generalised myasthenia gravis: A phase 2 RCT
Bril V, Benatar M, Andersen H, et al.
Neurology, 2020
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures
Vanherpe P, Fieuws S, D'Hondt A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 83
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
Hanna MG, Badrising UA, Benveniste O, et al.
The Lancet. Neurology, 2019, 18, 9, p 834
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)
Roy AJ, van den Bergh P, Van Damme P, et al.
Acta neurologica Belgica, 2015, 115, 2, p 97
A new muscle glycogen storage disease associated with Glycogenin-1 deficiency
Malfatti E, Nilsson J, Hedberg-Oldfors C, et al.
Annals of neurology, 2014, 76, 6, p 891
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Semmler AL, Sacconi S, Bach J, et al.
Orphanet journal of rare diseases, 2014, 9
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Yuen M, Sandaradura SA, Dowling JJ, et al.
The Journal of clinical investigation, 2014, 124, 11, p 4693
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
Sarkozy A, Hicks D, Hudson J, et al.
Human mutation, 2013, 34, 8, p. 1111-1118
Gait abnormalities in type 1 myotonic muscular dystrophy (DM1) : 3D motion analysis, energy cost and surface EMG
Tiffreau V, Detrembleur C, van den Bergh P, et al.
Computer methods in biomechanics and biomedical engineering, 2012, 15, Suppl 1, p. 171-172
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, et al.
Neuromuscular disorders : NMD, 2009, 19, 3, p 182
Immune-mediated rippling muscle disease with myasthenia gravis : a report of seven patients with long-term follow-up in two
Schoser B, Jacob S, Hilton-Jones D, et al.
Neuromuscular disorders : NMD, 2009, 19, 3, p. 223-228
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies : a genotype-phenotype correlation study
Dierick I, Baets J, Irobi J, et al.
Brain, 2008, 131, 5, p. 1217-1227
Four new caucasian patients with fukutin mutations : from CMD to LGMD
Quijano-Roy S, Vuillaumier-Barrot S, Maugenre S, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 311
151st ENMC International Workshop : inflammatory neuropathy consortium 13th-15th April 2007 Schiphol, The Netherlands
Collectif, Léger JM, Merkies IS, et al.
Neuromuscular disorders : NMD, 2008, 18, 1, p. 85-89
Pomt1 and pomt2 mutations are all associated with mental retardation in large cohort: consequences for molecular diagnosis : Communication lors du Congrès international de myologie (International Congress of Myology) 26-30 mai 2008 Marseille, France
Quijano-Roy S, Bouchet C, Yanagisawa A, et al.
2008, p 310
European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy : report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society
Hughes RAC, Bouche P, Cornblath DR, et al.
European journal of neurology, 2006, 13, p. 326-332
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
Lehtokari VL, Pelin K, Sandbacka M, et al.
Human mutation, 2006, 27, 9, p 946
European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of paraproteinaemic demyelinating neuropathies. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society
Hadden RD, Nobile-Orazio E, Sommer C, et al.
Journal of the peripheral nervous system, 2006, 11, p. 9-19
Autosomal dominant chronic external ophthalmoplegia (adpeo) : a report of three families (abstract : congrès international de Myologie, 2005)
van Parijs V, van Goethem G, Martin J, et al.
Congrès : Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France)
2005, p. 177
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
Windpassinger C, Auer-Grumbach M, Irobi J, et al.
Nature genetics, 2004, 36, 3, p. 271-276
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis
Fouad G, Dalakas M, Servidei S, et al.
Neuromuscular disorders : NMD, 1997, 7, 1, p 33
Physiologic variables for videofluoromanometric assessment of dysphagia : an exploratory study
Desuter G, Beguin C, Piessevaux H, et al.
Acta gastroenterologica Belgica, 07-09/2009, 72, 3, p. 312-320
