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Claude Desnuelle

Showing results (41-50 of 74) with videos related to

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Muscle & Nerve|November 19, 2016
Bent spine syndrome as the initial symptom of late-onset Pompe diseaseNicolas Taisne, Claude Desnuelle, Raul Juntas Morales, et al.
Orphanet Journal of Rare Diseases|April 12, 2020
The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendationsPierre-François Pradat, Emilien Bernard, Philippe Corcia, et al.
Neuromuscular Disorders : NMD|December 1, 2009
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathySabrina Sacconi, Eva Trevisson, Leonardo Salviati, et al.
Archives of Physical Medicine and Rehabilitation|October 3, 2007
Development of a French isometric strength normative database for adults using quantitative muscle testingJean-Yves Hogrel, Christine A Payan, Gwenn Ollivier, et al.
Journal of Medical Genetics|October 11, 2011
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneitySabrina Sacconi, Pilar Camaño, Jessica C de Greef, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 2, 2018
Phenotypic and genotypic studies of ALS cases in ALS-SMA familiesPhilippe Corcia, Patrick Vourc'h, Helene Blasco, et al.
Orphanet Journal of Rare Diseases|August 26, 2017
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe diseaseBarry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|November 16, 2010
Safety of home parenteral nutrition in patients with amyotrophic lateral sclerosis: a French national surveyMaya Abdelnour-Mallet, Annie Verschueren, Nathalie Guy, et al.
Journal of Neurology|August 11, 2014
Testing the validity of a set of diagnostic criteria for sensory neuronopathies: a francophone collaborative studyJean-Christophe Antoine, Florence Robert-Varvat, Thierry Maisonobe, et al.
European Journal of Human Genetics : EJHG|April 28, 2006
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assayMourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, et al.
Pageof 8

Showing results (41-50 of 74) with videos related to

Sort By:
Pageof 8
Muscle & Nerve|November 19, 2016
Bent spine syndrome as the initial symptom of late-onset Pompe diseaseNicolas Taisne, Claude Desnuelle, Raul Juntas Morales, et al.
Orphanet Journal of Rare Diseases|April 12, 2020
The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendationsPierre-François Pradat, Emilien Bernard, Philippe Corcia, et al.
Neuromuscular Disorders : NMD|December 1, 2009
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathySabrina Sacconi, Eva Trevisson, Leonardo Salviati, et al.
Archives of Physical Medicine and Rehabilitation|October 3, 2007
Development of a French isometric strength normative database for adults using quantitative muscle testingJean-Yves Hogrel, Christine A Payan, Gwenn Ollivier, et al.
Journal of Medical Genetics|October 11, 2011
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneitySabrina Sacconi, Pilar Camaño, Jessica C de Greef, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 2, 2018
Phenotypic and genotypic studies of ALS cases in ALS-SMA familiesPhilippe Corcia, Patrick Vourc'h, Helene Blasco, et al.
Orphanet Journal of Rare Diseases|August 26, 2017
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe diseaseBarry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|November 16, 2010
Safety of home parenteral nutrition in patients with amyotrophic lateral sclerosis: a French national surveyMaya Abdelnour-Mallet, Annie Verschueren, Nathalie Guy, et al.
Journal of Neurology|August 11, 2014
Testing the validity of a set of diagnostic criteria for sensory neuronopathies: a francophone collaborative studyJean-Christophe Antoine, Florence Robert-Varvat, Thierry Maisonobe, et al.
European Journal of Human Genetics : EJHG|April 28, 2006
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assayMourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, et al.
Pageof 8