Jean Pouget

Medicine · Health Sciences

54h-index11.1kcitations350works20.02yr avg
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Research Topics

Peripheral Neuropathies and Disorders(61), Genetic Neurodegenerative Diseases(50), Hereditary Neurological Disorders(46), Muscle Physiology and Disorders(43), Neurogenetic and Muscular Disorders Research(39)

Publications348 total

Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy
JAMA Neurology·2025· 20 citedOpen Access
Clinical and genetic features of patients suffering from CMT4J
Journal of Neurology·2023· 12 citedOpen Access
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
Orphanet Journal of Rare Diseases·2022· 6 citedOpen Access
Georges Serratrice
Revue Neurologique·2021
Hommage à Georges Serratrice (1927-2019)
médecine/sciences·2020Open Access
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study
The Lancet Neurology·2020· 154 citedOpen Access
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Orphanet Journal of Rare Diseases·2020· 8 citedOpen Access
Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases
Human Mutation·2020· 8 cited
Novel <i>CAPN3</i> variant associated with an autosomal dominant calpainopathy
Neuropathology and Applied Neurobiology·2020· 31 citedOpen Access
Implanted Phrenic Stimulation Impairs Local Diaphragm Myofiber Reinnervation in Amyotrophic Lateral Sclerosis
American Journal of Respiratory and Critical Care Medicine·2019· 10 citedOpen Access
Efficacy and Safety of Octagam® in Patients With Chronic Inflammatory Demyelinating Polyneuropathy
Neurology and Therapy·2019· 3 citedOpen Access
Characteristics of patients with vitamin B12-responsive neuropathy: a case series with systematic repeated electrophysiological assessment
Neurological Research·2019· 37 cited
Un rêve qui devient réalité
médecine/sciences·2019Open Access
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
Neuromuscular Disorders·2018· 89 citedOpen Access
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
European Journal of Human Genetics·2018· 39 citedOpen Access
IqYmune® is an effective maintenance treatment for multifocal motor neuropathy: A randomised, double‐blind, multi‐center cross‐over non‐inferiority study vs Kiovig®—The LIME Study
Journal of the Peripheral Nervous System·2018· 8 citedOpen Access
[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].
PubMed·2018
L’errance diagnostique au cœur des préoccupations du 3<sup>e</sup> Plan National Maladies Rares
médecine/sciences·2018· 2 citedOpen Access
Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires : Actions de la sous-commission Génétique Moléculaire de Filnemus
HAL (Le Centre pour la Communication Scientifique Directe)·2018Open Access
Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires
médecine/sciences·2018Open Access
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Frequent Co-authors

Shahram Attarian(15), B. Eymard(9), Annie Verschueren(8), Alexis Brice(7), J.-P. Azulay(6), Pascal Laforêt(6), Dominique Figarella‐Branger(6), Claude Desnuelle(6), Christine Tranchant(5), Karine Nguyen(5), Martin Krahn(5), Jean‐Philippe Azulay(5), Olivier Blin(4), Alexandra Dürr(4), Véronique Paquis‐Flucklinger(4), Guillaume Bassez(4), Rafaëlle Bernard(4), Nicolas Lévy(4), Vera Bril(4), David R. Cornblath(4)