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Pascal Cintas

Showing results (41-50 of 80) with videos related to

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Heart Rhythm|July 13, 2014
Prevalence of type 1 Brugada ECG pattern after administration of Class 1C drugs in patients with type 1 myotonic dystrophy: Myotonic dystrophy as a part of the Brugada syndromePhilippe Maury, Mathieu Audoubert, Pascal Cintas, et al.
Journal of Neuromuscular Diseases|July 8, 2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in FranceLamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda, et al.
Journal of Inherited Metabolic Disease|January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in AdultsDaniele Mandia, Metodi D Metodiev, Jean-François Benoist, et al.
Orphanet Journal of Rare Diseases|October 5, 2018
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effectYann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, et al.
Neurobiology of Aging|November 21, 2020
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosisElisa Teyssou, François Muratet, Maria-Del-Mar Amador, et al.
European Journal of Neurology|April 23, 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndromeRocio Nur Villar-Quiles, Damien Sternberg, Grégoire Tredez, et al.
Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.
Journal of Neuromuscular Diseases|April 24, 2026
A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in FranceGuillaume Montagu, François-Constant Boyer, Marcela Gargiulo, et al.
European Journal of Neurology|August 15, 2022
Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective studyClaire Peillet, David Adams, Shahram Attarian, et al.
European Journal of Neurology|April 8, 2024
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort studyCéline Tard, Françoise Bouhour, Maud Michaud, et al.
Pageof 8

Showing results (41-50 of 80) with videos related to

Sort By:
Pageof 8
Heart Rhythm|July 13, 2014
Prevalence of type 1 Brugada ECG pattern after administration of Class 1C drugs in patients with type 1 myotonic dystrophy: Myotonic dystrophy as a part of the Brugada syndromePhilippe Maury, Mathieu Audoubert, Pascal Cintas, et al.
Journal of Neuromuscular Diseases|July 8, 2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in FranceLamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda, et al.
Journal of Inherited Metabolic Disease|January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in AdultsDaniele Mandia, Metodi D Metodiev, Jean-François Benoist, et al.
Orphanet Journal of Rare Diseases|October 5, 2018
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effectYann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, et al.
Neurobiology of Aging|November 21, 2020
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosisElisa Teyssou, François Muratet, Maria-Del-Mar Amador, et al.
European Journal of Neurology|April 23, 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndromeRocio Nur Villar-Quiles, Damien Sternberg, Grégoire Tredez, et al.
Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.
Journal of Neuromuscular Diseases|April 24, 2026
A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in FranceGuillaume Montagu, François-Constant Boyer, Marcela Gargiulo, et al.
European Journal of Neurology|August 15, 2022
Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective studyClaire Peillet, David Adams, Shahram Attarian, et al.
European Journal of Neurology|April 8, 2024
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort studyCéline Tard, Françoise Bouhour, Maud Michaud, et al.
Pageof 8