Détail de l'auteur
Auteur Magy L |
Documents disponibles écrits par cet auteur



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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
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Titre : Electrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners Type de document : Article Auteurs : Uncini A ; Aretusi G ; Manganelli F ; Sekiguchi Y ; Magy L ; Tozza S ; Tsuneyama A ; Lefour S ; Kuwabara S ; Santoro L ; Ippoliti L Editeur : Italy Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32518996 / DOI : 10.1007/s10072-020-04499-y
N° Profil MNM : 2020061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32518996 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Molecular genetics & genomic medicine, 7, 9 Titre : Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series Type de document : Article Auteurs : Lerat J, Auteur ; Magdelaine C ; Roux AF ; Darnaud L ; Beauvais-Dzugan H ; Naud S ; Richard L ; Derouault P ; Ghorab K ; Magy L ; Vallat JM ; Cintas P ; Bieth E ; Arne-Bes MC ; Goizet C ; Espil-Taris C ; Journel H ; Toutain A ; Urtizberea JA ; Boespflug-Tanguy O ; Laffargue F ; Corcia P ; Pasquier L ; Fradin M ; Napuri S ; Ciron J ; Boulesteix JM ; Sturtz F ; Lia AS Editeur : United States Année de publication : 09/2019 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31393079 / DOI : 10.1002/mgg3.839
N° Profil MNM : 2019082 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31393079 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Journal of the neurological sciences, 406 Titre : Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. Type de document : Article Auteurs : Lerat J, Auteur ; Magdelaine C ; Lunati A ; Dzugan H ; Dejoie C ; Rego M ; Beze Beyrie P ; Bieth E ; Calvas P ; Cintas P ; Delaubrier A ; Demurger F ; Gilbert-Dussardier B ; Goizet C ; Journel H ; Laffargue F ; Magy L ; Taithe F ; Toutain A ; Urtizberea JA ; Sturtz F ; Lia AS Editeur : Netherlands Année de publication : 06/2019 Langues : Anglais (eng) Mots-clés : CMT forme démyélinisante ; corrélation génotype-phénotype ; étude de cas ; gène SH3TC2 ; maladie de Charcot-Marie-Tooth ; maladie du système nerveux périphérique Pubmed / DOI : Pubmed : 31634715 / DOI : 10.1016/j.jns.2019.06.027
N° Profil MNM : 2019102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31634715 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : European journal of human genetics : EJHG Titre : LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2 Type de document : Article Auteurs : Peretti A, Auteur ; Perie M ; Vincent D ; Bouhour F ; Dieterich K ; Mallaret M ; Duval F ; Goizet C ; Juntas-Morales R ; Magy L ; Solé G ; Nollet S ; Not A ; Leonard-Louis S ; Francou B ; LeGuern E ; Lia AS ; Magdelaine C ; Latour P ; Stojkovic T Année de publication : 17/04/2019 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1038/s41431-019-0403-8 / Pubmed : 30996334
N° Profil MNM : 2019042 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/30996334 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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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
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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
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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
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Updating the classification of inherited neuropathies: Results of an international survey
Magy L, Mathis S, Le Masson G, et al.
Neurology, 2018, 90, 10
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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
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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
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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
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Simultaneous Combined Myositis, Inflammatory Polyneuropathy, and Overlap Myasthenic Syndrome
Mathis S, Magy L, Corcia P, et al.
Case reports in neurological medicine, 2016, 2016
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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
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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
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Classifications of neurogenetic diseases: An increasingly complex problem
Vallat JM, Goizet C, Tazir M, et al.
Revue neurologique, 2016, 172, 6-7, p 339
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Therapeutic options in Charcot-Marie-Tooth diseases
Mathis S, Magy L, Vallat JM
Expert Review of Neurotherapeutics, 2015, 15, 4, p 355
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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
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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
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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
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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
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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
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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
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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
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