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Isabelle Richard

Showing results (161-170 of 182) with videos related to

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Annals of Neurology|April 21, 2007
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathyVirginie Carmignac, Mustafa A M Salih, Susana Quijano-Roy, et al.
Acta Neuropathologica Communications|March 22, 2023
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variantNastasia Cardone, Melissa Moula, Rianne J Baelde, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|July 5, 2015
Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular diseaseAntoine Dany, Coralie Barbe, Amandine Rapin, et al.
Human Molecular Genetics|June 11, 2015
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophiesJérémy Rouillon, Jérôme Poupiot, Aleksandar Zocevic, et al.
Neurology|November 20, 2015
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyRafael De Cid, Rabah Ben Yaou, Carinne Roudaut, et al.
Science Advances|October 22, 2025
Lysosomal damage is a therapeutic target in Duchenne muscular dystrophyAbbass Jaber, Laura Palmieri, Rania Bakour, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 4, 2018
Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE ExpressionPatrice Vidal, Serena Pagliarani, Pasqualina Colella, et al.
European Heart Journal|July 14, 2023
Cardiometabolic risk management: insights from a European Society of Cardiology Cardiovascular Round TableFrancesco Cosentino, Subodh Verma, Philip Ambery, et al.
International Journal of Molecular Sciences|August 12, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient CareMaude Vecten, Emmanuelle Pion, Marc Bartoli, et al.
Human Mutation|October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patientsMartin Krahn, Christophe Béroud, Véronique Labelle, et al.
Pageof 19

Showing results (161-170 of 182) with videos related to

Sort By:
Pageof 19
Annals of Neurology|April 21, 2007
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathyVirginie Carmignac, Mustafa A M Salih, Susana Quijano-Roy, et al.
Acta Neuropathologica Communications|March 22, 2023
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variantNastasia Cardone, Melissa Moula, Rianne J Baelde, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|July 5, 2015
Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular diseaseAntoine Dany, Coralie Barbe, Amandine Rapin, et al.
Human Molecular Genetics|June 11, 2015
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophiesJérémy Rouillon, Jérôme Poupiot, Aleksandar Zocevic, et al.
Neurology|November 20, 2015
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyRafael De Cid, Rabah Ben Yaou, Carinne Roudaut, et al.
Science Advances|October 22, 2025
Lysosomal damage is a therapeutic target in Duchenne muscular dystrophyAbbass Jaber, Laura Palmieri, Rania Bakour, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 4, 2018
Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE ExpressionPatrice Vidal, Serena Pagliarani, Pasqualina Colella, et al.
European Heart Journal|July 14, 2023
Cardiometabolic risk management: insights from a European Society of Cardiology Cardiovascular Round TableFrancesco Cosentino, Subodh Verma, Philip Ambery, et al.
International Journal of Molecular Sciences|August 12, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient CareMaude Vecten, Emmanuelle Pion, Marc Bartoli, et al.
Human Mutation|October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patientsMartin Krahn, Christophe Béroud, Véronique Labelle, et al.
Pageof 19