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Pascal Laforêt

Showing results (91-100 of 164) with videos related to

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Acta Neuropathologica|December 17, 2008
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathyJorge A Bevilacqua, Marc Bitoun, Valérie Biancalana, et al.
Orphanet Journal of Rare Diseases|February 14, 2025
Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem" by Klein et alMichelle E Kruijshaar, Tiffany House, Benedikt Schoser, et al.
Archives of Cardiovascular Diseases|October 22, 2013
Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, et al.
Nature Genetics|October 18, 2005
Mutations in dynamin 2 cause dominant centronuclear myopathyMarc Bitoun, Svetlana Maugenre, Pierre-Yves Jeannet, et al.
Molecular Genetics and Metabolism|September 11, 2017
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIaValérie Decostre, Pascal Laforêt, Marie De Antonio, et al.
Circulation. Cardiovascular Genetics|June 15, 2017
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart RegistryCaroline Chong-Nguyen, Karim Wahbi, Vincent Algalarrondo, et al.
Annals of Neurology|May 10, 2020
A New Glycogen Storage Disease Caused by a Dominant PYGM MutationAndoni Echaniz-Laguna, Xavière Lornage, Pascal Laforêt, et al.
Genetic Testing and Molecular Biomarkers|June 21, 2018
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French CohortAlzira Alves de Siqueira Carvalho, Emmanuele Lacene, Guy Brochier, et al.
Journal of Neuromuscular Diseases|April 5, 2021
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular DystrophyCaroline Stalens, Leslie Motté, Anthony Béhin, et al.
Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Pageof 17

Showing results (91-100 of 164) with videos related to

Sort By:
Pageof 17
Acta Neuropathologica|December 17, 2008
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathyJorge A Bevilacqua, Marc Bitoun, Valérie Biancalana, et al.
Orphanet Journal of Rare Diseases|February 14, 2025
Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem" by Klein et alMichelle E Kruijshaar, Tiffany House, Benedikt Schoser, et al.
Archives of Cardiovascular Diseases|October 22, 2013
Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, et al.
Nature Genetics|October 18, 2005
Mutations in dynamin 2 cause dominant centronuclear myopathyMarc Bitoun, Svetlana Maugenre, Pierre-Yves Jeannet, et al.
Molecular Genetics and Metabolism|September 11, 2017
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIaValérie Decostre, Pascal Laforêt, Marie De Antonio, et al.
Circulation. Cardiovascular Genetics|June 15, 2017
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart RegistryCaroline Chong-Nguyen, Karim Wahbi, Vincent Algalarrondo, et al.
Annals of Neurology|May 10, 2020
A New Glycogen Storage Disease Caused by a Dominant PYGM MutationAndoni Echaniz-Laguna, Xavière Lornage, Pascal Laforêt, et al.
Genetic Testing and Molecular Biomarkers|June 21, 2018
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French CohortAlzira Alves de Siqueira Carvalho, Emmanuele Lacene, Guy Brochier, et al.
Journal of Neuromuscular Diseases|April 5, 2021
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular DystrophyCaroline Stalens, Leslie Motté, Anthony Béhin, et al.
Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Pageof 17