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Jean Pouget

Showing results (81-90 of 113) with videos related to

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Orphanet Journal of Rare Diseases|October 15, 2020
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, et al.
Human Mutation|February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsAndoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.
Human Mutation|May 19, 2020
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseasesElamine Zereg, Annabelle Chaussenot, Godelieve Morel, et al.
The Lancet. Neurology|October 13, 2009
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trialJoëlle Micallef, Shahram Attarian, Odile Dubourg, et al.
American Journal of Human Genetics|January 22, 2013
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathyJohann Böhm, Frédéric Chevessier, André Maues De Paula, et al.
European Journal of Human Genetics : EJHG|August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohortCécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Fundamental & Clinical Pharmacology|January 12, 2011
Use of intravenous immunoglobulins in clinical practice: data from three French university hospitalsElisabeth Frauger, Jerome Grassi, Vincent Pradel, et al.
Orphanet Journal of Rare Diseases|January 22, 2015
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter studyEmmanuelle Salort-Campana, Karine Nguyen, Rafaelle Bernard, et al.
Human Mutation|October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patientsMartin Krahn, Christophe Béroud, Véronique Labelle, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.
Pageof 12

Showing results (81-90 of 113) with videos related to

Sort By:
Pageof 12
Orphanet Journal of Rare Diseases|October 15, 2020
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, et al.
Human Mutation|February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsAndoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.
Human Mutation|May 19, 2020
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseasesElamine Zereg, Annabelle Chaussenot, Godelieve Morel, et al.
The Lancet. Neurology|October 13, 2009
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trialJoëlle Micallef, Shahram Attarian, Odile Dubourg, et al.
American Journal of Human Genetics|January 22, 2013
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathyJohann Böhm, Frédéric Chevessier, André Maues De Paula, et al.
European Journal of Human Genetics : EJHG|August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohortCécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Fundamental & Clinical Pharmacology|January 12, 2011
Use of intravenous immunoglobulins in clinical practice: data from three French university hospitalsElisabeth Frauger, Jerome Grassi, Vincent Pradel, et al.
Orphanet Journal of Rare Diseases|January 22, 2015
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter studyEmmanuelle Salort-Campana, Karine Nguyen, Rafaelle Bernard, et al.
Human Mutation|October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patientsMartin Krahn, Christophe Béroud, Véronique Labelle, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.
Pageof 12