Détail de l'auteur
Documents disponibles écrits par cet auteur (34)
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de recherche
Efficacy and safety of rituximab in myasthenia gravis: a French multicentre real-life study
Dos Santos A, Noury JB, Genestet S, et al.
European journal of neurology, 2020
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar JP, Verhoeven JI, Rodenburg RJ, et al.
Brain : a journal of neurology, 2020, 143, 2, p 452
Response to Finsterer and colleagues on 'Prospective studies on the efficacy of rituximab for myasthenia gravis are warranted'
Dos Santos A, Pereon Y, Wiertlewski S, et al.
European journal of neurology, 2020
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation
Masingue M, Arzel M, Sternberg D, et al.
Muscle & Nerve, 2020
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Lagrue E, Dogan C, De Antonio M, et al.
Neurology, 2019, 92, 8, p 852
La maladie de Steinert racontée par ceux qui la vivent... A propos de l'étude ASHAM
Hardy AC, Lecordier D, Perrot A, et al.
Les Cahiers de Myologie, 2017, 15, p.22-26
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, et al.
Acta neuropathologica, 2017, 134, 6, p 889
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A
Mercier S, Lornage X, Malfatti E, et al.
Neurology, 2017, 88, 4, p 414
Effects of Duchenne muscular dystrophy on muscle stiffness and response to electrically-induced muscle contraction: A 12-month follow-up
Lacourpaille L, Gross R, Hug F, et al.
Neuromuscular disorders : NMD, 2017, 27, 3, p 214
Poïkilodermie héréditaire fibrosante, myopathie rétractile et fibrose pulmonaire (POIKTMP) : Une pathologie multisystémique liée à des mutations dans le gène FAM111B
Mercier S, Kury S, Magot A, et al.
Les Cahiers de Myologie, 2016, 13, p. 12-14
Analyse sociologique des habitudes de vie des adultes atteints de Dystrophie myotonique de type 1 ou maladie de Steinert : ASHAM
Hardy AC, Lecordier D, Perrot A, et al.
2016, 126 p
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Dogan C, De Antonio M, Hamroun D, et al.
PLoS ONE, 2016, 11, 2
Muscle Magnetic Resonance Imaging abnormalities in X-linked myopathy with excessive autophagy
Mercier S, Magot A, Caillon F, et al.
Muscle & Nerve, 2015, 52, 4, p. 673
Particularités de la dystrophie musculaire de Becker et des femmes conductrices : Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular Dystrophy
Magot A, Mercier S, Pereon Y
Archives de pédiatrie, 2015, 22, 12 S1, p 12S31
Physiopathologie de la dystrophie musculaire de Duchenne : Duchenne muscular dystrophy pathophysiology
Pereon Y, Mercier S, Magot A
Archives de pédiatrie, 2015, 22, 12 S1, p 12S18
Non-invasive assessment of muscle stiffness in patients with Duchenne muscular dystrophy
Lacourpaille L, Hug F, Guével A, et al.
Muscle & Nerve, 2015, 51, 2, p 284
Atypical nuclear abnormalities in a patient with Brody disease
Mussini JM, Magot A, Hantaï D, et al.
Neuromuscular disorders : NMD, 2015, 25, 10, p 773
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Mercier S, Kury S, Salort-Campana E, et al.
Orphanet journal of rare diseases, 2015, 10
Focal and abnormally persistent paralysis associated with congenital paramyotonia
Magot A, David A, Sternberg D, et al.
BMJ case reports, 2014, 2014
New insights on contraction efficiency in patients with Duchenne muscular dystrophy
Lacourpaille L, Hug F, Guével A, et al.
Journal of applied physiology, 2014, 17, 6, p 658
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A
Attarian S, Vallat JM, Magy L, et al.
Orphanet journal of rare diseases, 2014, 9
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
Mercier S, Kury S, Shaboodien G, et al.
American journal of human genetics, 2013, 93, 6, p 1100
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
Mercier S, Kury S, Shaboodien G, et al.
American journal of human genetics (The), 2013, 93, 6, p. 1100-1107
