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Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Annoussamy M, Seferian AM, Daron A, et al.
Annals of clinical and translational neurology, 2020
Homozygous C-terminal loss-of-function Na(V)1.4 variant in a patient with congenital myasthenic syndrome
Echaniz-Laguna A, Biancalana V, Nadaj-Pakleza A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation
Masingue M, Arzel M, Sternberg D, et al.
Muscle & Nerve, 2020
Clinical electrophysiology of muscle diseases and episodic muscle disorders
Fournier E, Tabti N
Handbook of clinical neurology, 2019, 161, p 269
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
Chabanon A, Seferian AM, Daron A, et al.
PLoS ONE, 2018, e0201004
The role of electrodiagnosis with long exercise test in McArdle disease
Semplicini C, Hézode-Arzel M, Laforêt P, et al.
Muscle & Nerve, 2018
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients
Guimaraes-Costa R, Iancu Ferfoglia R, Leonard-Louis S, et al.
European journal of neurology, 2017, 24, 3, p 530
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations
Echaniz-Laguna A, Geuens T, Petiot P, et al.
Human mutation, 2017, 38, 5, p 556
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Bauché S, Vellieux G, Sternberg D, et al.
Journal of neurology, 2017, 264, 8, p 1791
Peripheral neuropathy in glycogen storage disease type III: Fact or myth?
Herlin B, Laforêt P, Labrune P, et al.
Muscle & Nerve, 2016, 53, 2, p 310
Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients
Bruneteau G, Bauché S, Gonzalez de Aguilar JL, et al.
Annals of clinical and translational neurology, 2015, 2, 4, p 362
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
Nicole S, Chaouch A, Torbergsen T, et al.
Brain : a journal of neurology, 2014, 137, Pt 9, p 2429
Chronic inflammatory demyelinating polyradiculoneuropathy: search for factors associated with treatment dependence or successful withdrawal
Rabin M, Mutlu G, Stojkovic T, et al.
Journal of neurology, neurosurgery, and psychiatry, 2014, 85, 8, p 901
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia
Furby A, Vicart S, Camdessanché JP, et al.
Neuromuscular disorders : NMD, 2014, 24, 11, p 953
Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression
Bruneteau G, Simonet T, Bauché S, et al.
Brain : a journal of neurology, 2013, 136, Pt8, p 2359
Pregnancy in congenital myasthenic syndrome
Servais L, Baudoin H, Zehrouni K, et al.
Journal of neurology, 2013, 260, 3, p 815
Sensory chronic inflammatory demyelinating polyneuropathy: an under-recognized entity?
Ayrignac X, Viala K, Koutlidis RM, et al.
Muscle & Nerve, 2013, 48, 5, p 727
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
Auré K, Dubourg O, Jardel C, et al.
Neurology, 2013, 81, 21, p. 1810-1818
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome
Bauché S, Boerio D, Davoine CS, et al.
Neuromuscular disorders : NMD, 2013, 23, 12, p 998
Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients
Renouil M, Stojkovic T, Jacquemont ML, et al.
Revue neurologique (Paris), 2013, 169, 8-9, p. 603-612
Syndromes myasthéniques congénitaux : difficultés diagnostiques, évolution et prognostic, thérapeutique. L’expérience du réseau national «Syndromes myasthéniques congénitaux»
Eymard B, Stojkovic T, Sternberg D, et al.
Revue neurologique (Paris), 2013, 169, Suppl 1, p S45
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations
Wargon I, Richard P, Kuntzer T, et al.
Neuromuscular disorders : NMD, 2012, 22, 4, p. 318-324
Diagnostic électromyographique des canalopathies musculaires
Fournier E
Les Cahiers de Myologie, 2011, 5, p. 25-26
Brody syndrome represents a plausible diagnosis for painless exercise-induced stiffness without electrical myotonia : detection of 10 cases related to mutations in ATP2A1 gene
Sternberg D, Chevessier F, Bassez G, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 145
Congenital myasthenic syndromes: experience of the french network : Communication lors du 4th International Congress of Myology (4ème colloque international de Myologie) 9-13 mai 2011 Lille, France
Eymard B, Sternberg D, Richard P, et al.
2011, p 27
