Publications by authors named "Jean Pouget"

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Clinical and genetic features of patients suffering from CMT4J.
Sadia Beloribi-Djefaflia, Raul Juntas Morales, Farzad Fatehi, Arnaud Isapof, Laurent Servais, Jean Pouget

J Neurol· March 2024

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[Not Available].
Jean Pouget

Med Sci (Paris)· December 2020

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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Tomàs Pinós, Antoni L Andreu, Claudio Bruno, Georgios M Hadjigeorgiou, Ronald G Haller, Jean Pouget

Orphanet J Rare Dis· October 2020

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Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Elamine Zereg, Annabelle Chaussenot, Godelieve Morel, Sylvie Bannwarth, Sabrina Sacconi, Jean Pouget

Hum Mutat· August 2020

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New insights into the structural properties of κ-(BEDT-TTF)Ag(CN) spin liquid.
Pascale Foury-Leylekian, Vita Ilakovac, Pierre Fertey, Victor Baledent, Ognjen Milat, Jean Paul Pouget

Acta Crystallogr B Struct Sci Cryst Eng Mater· August 2020

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Characteristics of patients with vitamin B12-responsive neuropathy: a case series with systematic repeated electrophysiological assessment.
Jérôme Franques, Laurent Chiche, André Maues De Paula, Aude Marie Grapperon, Shahram Attarian, Jean Pouget

Neurol Res· June 2019

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Efficacy and Safety of Octagam® in Patients With Chronic Inflammatory Demyelinating Polyneuropathy.
Chafké Belmokhtar, Pierre Lozeron, David Adams, Jérôme Franques, Arnaud Lacour, Jean Pouget

Neurol Ther· June 2019

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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.
Jean-Marc Léger, Ousmane Alfa Cissé, Dario Cocito, Jean-Marie Grouin, Haider Katifi, Jean Pouget

J Peripher Nerv Syst· March 2019

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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Martin Krahn, Valérie Biancalana, Mathieu Cerino, Aurélien Perrin, Laurence Michel-Calemard, Jean Pouget

Eur J Hum Genet· March 2019

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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.
Loren D M Pena, Richard J Barohn, Barry J Byrne, Claude Desnuelle, Ozlem Goker-Alpan, Jean Pouget

Neuromuscul Disord· March 2019

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[A dream becoming reality].
Jean Pouget

Med Sci (Paris)· March 2019

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[Diagnostic odyssey at the heart of the 3 National Initiative for Rare Disorders].
Gisèle Bonne, Jean Pouget

Med Sci (Paris)· November 2018

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[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].
Aurélien Perrin, Philippe Latour, Vincent Procaccio, Claude Jardel, Mathieu Cérino, Jean Pouget

Med Sci (Paris)· November 2018

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Motor unit number index correlates with disability in Charcot-Marie-Tooth disease.
Joachim Bas, Emilien Delmont, Farzad Fatehi, Emmanuelle Salort-Campana, Annie Verschueren, Jean Pouget

Clin Neurophysiol· July 2018

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Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Jean Pouget

JAMA Neurol· May 2018

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Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, Diana Rodriguez, Rabab Debs, Jean Pouget

JAMA Neurol· April 2018

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Annie Laquerrière, Norma B Romero, Jean Pouget

Acta Neuropathol· December 2017

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Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Anni Evilä, Johanna Palmio, Anna Vihola, Marco Savarese, Giorgio Tasca, Jean Pouget

Mol Neurobiol· November 2017

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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Mathieu Cerino, Svetlana Gorokhova, Pascal Laforet, Rabah Ben Yaou, Emmanuelle Salort-Campana, Jean Pouget

Muscle Nerve· November 2017

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Predictive factors of efficacy of rituximab in patients with anti-MAG neuropathy.
Sébastien Gazzola, Emilien Delmont, Jérôme Franques, José Boucraut, Emmanuelle Salort-Campana, Jean Pouget

J Neurol Sci· June 2017

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Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Andoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, Yann Péréon, Elias Adriaenssens, Jean Pouget

Hum Mutat· May 2017

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New strategy for improving the diagnostic sensitivity of repetitive nerve stimulation in myasthenia gravis.
Hanna Bou Ali, Emmanuelle Salort-Campana, Aude Marie Grapperon, Julien Gallard, Jerome Franques, Jean Pouget

Muscle Nerve· April 2017

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Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.
Pascale Richard, Capucine Trollet, Tanya Stojkovic, Alix de Becdelievre, Sophie Perie, Jean Pouget

Neurology· January 2017

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Erratum to: 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.
Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoît Funalot, Pierre-Marie Gonnaud, Jean Pouget

Orphanet J Rare Dis· July 2016

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Sudoscan as a noninvasive tool to assess sudomotor dysfunction in patients with Fabry disease: results from a case-control study.
Pauline Sahuc, Laurent Chiche, Bertrand Dussol, Jean Pouget, Jérôme Franques

Ther Clin Risk Manag· February 2016

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