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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
Electrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners
Uncini A, Aretusi G, Manganelli F, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series
Lerat J, Magdelaine C, Roux AF, et al.
Molecular genetics & genomic medicine, 2019, 7, 9
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Lerat J, Magdelaine C, Lunati A, et al.
Journal of the neurological sciences, 2019, 406
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
Peretti A, Perie M, Vincent D, et al.
European journal of human genetics : EJHG, 2019
Rodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP
Jouaud M, Mathis S, Richard L, et al.
Journal of the neurological sciences, 2019, 398, p 79
The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?
Vallat JM, Vallat JM, Tazir M, et al.
Brain : a journal of neurology, 2018, 141, 9
Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder
Duchesne M, Danigo A, Richard L, et al.
Journal of neuropathology and experimental neurology, 2018, 77, 4, p 274
Some new proposals for the classification of inherited myopathies
Mathis S, Tazir M, Solé G, et al.
Journal of the neurological sciences, 2018, 391, p 118
Updating the classification of inherited neuropathies: Results of an international survey
Magy L, Mathis S, Le Masson G, et al.
Neurology, 2018, 90, 10
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
Il ne faut pas baisser les bras devant une "tête tombante"
Duschène M, Magy L, Maisonoble T, et al.
Lettre du neurologue Nerf et Muscle (La), 2017, 21, 7, p 200
A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients
Wang W, Guedj M, Bertrand V, et al.
PLoS ONE, 2017, 12, 1
Simultaneous Combined Myositis, Inflammatory Polyneuropathy, and Overlap Myasthenic Syndrome
Mathis S, Magy L, Corcia P, et al.
Case reports in neurological medicine, 2016, 2016
Too many numbers and complexity: time to update the classifications of neurogenetic disorders?
Vallat JM, Goizet C, Magy L, et al.
Journal of medical genetics, 2016, 53, 10, p 647
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
Classifications of neurogenetic diseases: An increasingly complex problem
Vallat JM, Goizet C, Tazir M, et al.
Revue neurologique, 2016, 172, 6-7, p 339
Therapeutic options in Charcot-Marie-Tooth diseases
Mathis S, Magy L, Vallat JM
Expert Review of Neurotherapeutics, 2015, 15, 4, p 355
Charcot-Marie-Tooth diseases: an update and some new proposals for the classification
Mathis S, Goizet C, Tazir M, et al.
Journal of medical genetics, 2015, 52, 10, p 681
Neuropathologic Characterization of INF2-Related Charcot-Marie-Tooth Disease: Evidence for a Schwann Cell Actinopathy.
Mathis S, Funalot B, Boyer O, et al.
Journal of neuropathology and experimental neurology, 2014, 73, 3, p. 223-233
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila M, Lehtokari VL, Marston S, et al.
Human mutation, 2014, 35, 7, p 779
Peripheral Myelin Protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A disease
Mathis S, Corcia P, Tazir M, et al.
Neuromuscular disorders : NMD, 2014, 24, 6, p 524
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
CMT4D (NDRG1 mutation) : genotype-phenotype correlations
Ricard E, Mathis S, Magdelaine C, et al.
Journal of the peripheral nervous system, 2013, 18, 3, p. 261-265
Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d’experts sous l’égide de la Société française de neuropathologie, de la Société française de myologie et de l’Association française contre les myopathies : Management of Muscle and Nerve Biopsies: Expert Guidelines From Two French Professional Societies, Société française De Myologie Et De l'Association française Contre Les Myopathies
Uro-Coste E, Fernandez C, Authier FJ, et al.
Société française de myologie
Revue neurologique (Paris), 2010, 166, 5, p 477
