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Pascal Laforêt

Showing results (111-120 of 164) with videos related to

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Molecular Genetics and Metabolism|June 27, 2017
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe diseaseConstantinos Papadopoulos, David Orlikowski, Hélène Prigent, et al.
Acta Neuropathologica|January 20, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical studyKristl G Claeys, Peter F M van der Ven, Anthony Behin, et al.
Neuromuscular Disorders : NMD|March 31, 2009
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiencyPascal Laforêt, Cécile Acquaviva-Bourdain, Odile Rigal, et al.
Neuromuscular Disorders : NMD|April 15, 2009
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementiaTanya Stojkovic, El Hadi Hammouda, Pascale Richard, et al.
Journal of Inherited Metabolic Disease|April 24, 2016
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcomeChristiaan P Sentner, Irene J Hoogeveen, David A Weinstein, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|September 25, 2018
The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophyGiorgia Querin, Timothée Lenglet, Rabab Debs, et al.
European Journal of Neurology|June 25, 2026
Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and ConsiderationsMaudy T M Theunissen, Zohra Hayat, Françoise Bouhour, et al.
Muscle & Nerve|May 9, 2025
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPELHani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, et al.
Neurology. Genetics|January 26, 2022
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron RegulationSebastian Montealegre, Elise Lebigot, Hugo Debruge, et al.
Journal of Neurology|February 28, 2024
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, et al.
Pageof 17

Showing results (111-120 of 164) with videos related to

Sort By:
Pageof 17
Molecular Genetics and Metabolism|June 27, 2017
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe diseaseConstantinos Papadopoulos, David Orlikowski, Hélène Prigent, et al.
Acta Neuropathologica|January 20, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical studyKristl G Claeys, Peter F M van der Ven, Anthony Behin, et al.
Neuromuscular Disorders : NMD|March 31, 2009
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiencyPascal Laforêt, Cécile Acquaviva-Bourdain, Odile Rigal, et al.
Neuromuscular Disorders : NMD|April 15, 2009
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementiaTanya Stojkovic, El Hadi Hammouda, Pascale Richard, et al.
Journal of Inherited Metabolic Disease|April 24, 2016
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcomeChristiaan P Sentner, Irene J Hoogeveen, David A Weinstein, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|September 25, 2018
The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophyGiorgia Querin, Timothée Lenglet, Rabab Debs, et al.
European Journal of Neurology|June 25, 2026
Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and ConsiderationsMaudy T M Theunissen, Zohra Hayat, Françoise Bouhour, et al.
Muscle & Nerve|May 9, 2025
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPELHani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, et al.
Neurology. Genetics|January 26, 2022
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron RegulationSebastian Montealegre, Elise Lebigot, Hugo Debruge, et al.
Journal of Neurology|February 28, 2024
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, et al.
Pageof 17