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Pascal Laforêt

Showing results (131-140 of 164) with videos related to

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Journal of Neuropathology and Experimental Neurology|August 23, 2013
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disordersEdoardo Malfatti, Montse Olivé, Ana Lía Taratuto, et al.
International Journal of Molecular Sciences|August 12, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient CareMaude Vecten, Emmanuelle Pion, Marc Bartoli, et al.
European Journal of Neurology|August 29, 2024
Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scaleHarmke A van Kooten, Mike C Horton, Stephan Wenninger, 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.
Brain : a Journal of Neurology|April 19, 2016
High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibodyYves Allenbach, Jeremy Keraen, Anne-Marie Bouvier, et al.
Brain : a Journal of Neurology|September 28, 2014
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutationsJohann Böhm, Valérie Biancalana, Edoardo Malfatti, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|April 22, 2017
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutationsJulien Thevenon, Gabriel Laurent, Flavie Ader, et al.
Neuromuscular Disorders : NMD|February 17, 2019
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 studyLoren D M Pena, Richard J Barohn, Barry J Byrne, et al.
Neuromuscular Disorders : NMD|July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entityKristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
Acta Neuropathologica Communications|October 30, 2019
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairmentPascal Laforêt, Michio Inoue, Evelyne Goillot, et al.
Pageof 17

Showing results (131-140 of 164) with videos related to

Sort By:
Pageof 17
Journal of Neuropathology and Experimental Neurology|August 23, 2013
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disordersEdoardo Malfatti, Montse Olivé, Ana Lía Taratuto, et al.
International Journal of Molecular Sciences|August 12, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient CareMaude Vecten, Emmanuelle Pion, Marc Bartoli, et al.
European Journal of Neurology|August 29, 2024
Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scaleHarmke A van Kooten, Mike C Horton, Stephan Wenninger, 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.
Brain : a Journal of Neurology|April 19, 2016
High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibodyYves Allenbach, Jeremy Keraen, Anne-Marie Bouvier, et al.
Brain : a Journal of Neurology|September 28, 2014
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutationsJohann Böhm, Valérie Biancalana, Edoardo Malfatti, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|April 22, 2017
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutationsJulien Thevenon, Gabriel Laurent, Flavie Ader, et al.
Neuromuscular Disorders : NMD|February 17, 2019
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 studyLoren D M Pena, Richard J Barohn, Barry J Byrne, et al.
Neuromuscular Disorders : NMD|July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entityKristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
Acta Neuropathologica Communications|October 30, 2019
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairmentPascal Laforêt, Michio Inoue, Evelyne Goillot, et al.
Pageof 17