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Claude Desnuelle

Showing results (61-70 of 74) with videos related to

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The Lancet. Neurology|February 1, 2017
Safety and efficacy of ozanezumab in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled, phase 2 trialVincent Meininger, Angela Genge, Leonard H van den Berg, et al.
American Journal of Human Genetics|October 1, 2013
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1Sabrina Sacconi, Richard J L F Lemmers, Judit Balog, 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.
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.
Neurobiology of Disease|July 13, 2024
Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognitionVincent Huin, David Blum, Violette Delforge, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2021
Effect of familial clustering in the genetic screening of 235 French ALS familiesPhilippe Corcia, William Camu, Celine Brulard, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 17, 2011
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trialsVéronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, et al.
Brain : a Journal of Neurology|August 28, 2024
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosisDelphine Sapaly, Flore Cheguillaume, Laure Weill, et al.
Nature Genetics|November 13, 2012
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, et al.
Nature Neuroscience|March 25, 2015
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementiaAxel Freischmidt, Thomas Wieland, Benjamin Richter, et al.
Pageof 8

Showing results (61-70 of 74) with videos related to

Sort By:
Pageof 8
The Lancet. Neurology|February 1, 2017
Safety and efficacy of ozanezumab in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled, phase 2 trialVincent Meininger, Angela Genge, Leonard H van den Berg, et al.
American Journal of Human Genetics|October 1, 2013
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1Sabrina Sacconi, Richard J L F Lemmers, Judit Balog, 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.
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.
Neurobiology of Disease|July 13, 2024
Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognitionVincent Huin, David Blum, Violette Delforge, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2021
Effect of familial clustering in the genetic screening of 235 French ALS familiesPhilippe Corcia, William Camu, Celine Brulard, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 17, 2011
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trialsVéronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, et al.
Brain : a Journal of Neurology|August 28, 2024
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosisDelphine Sapaly, Flore Cheguillaume, Laure Weill, et al.
Nature Genetics|November 13, 2012
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, et al.
Nature Neuroscience|March 25, 2015
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementiaAxel Freischmidt, Thomas Wieland, Benjamin Richter, et al.
Pageof 8