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Pascal Laforêt

Showing results (151-160 of 164) with videos related to

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European Journal of Neurology|March 14, 2021
Deep phenotyping of an international series of patients with late-onset dysferlinopathyGorka Fernández-Eulate, Giorgia Querin, Ursula Moore, et al.
Journal of Neurology|July 17, 2017
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathyStéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, et al.
Orphanet Journal of Rare Diseases|January 24, 2024
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatmentsEmmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, et al.
Journal of Neurology|September 24, 2021
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohortSusana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registryBenoît Sanson, Abderhmane Slioui, Jérémy Garcia, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2024
<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, et al.
Journal of the American College of Cardiology|October 6, 2022
Cardiac Outcomes in Adults With Mitochondrial DiseasesKonstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, et al.
European Journal of Human Genetics : EJHG|December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetranceLaurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
Orphanet Journal of Rare Diseases|October 27, 2021
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseasesLucie Isoline Pisella, Sara Fernandes, Guilhem Solé, et al.
European Heart Journal|March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry dataRaphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.
Pageof 17

Showing results (151-160 of 164) with videos related to

Sort By:
Pageof 17
European Journal of Neurology|March 14, 2021
Deep phenotyping of an international series of patients with late-onset dysferlinopathyGorka Fernández-Eulate, Giorgia Querin, Ursula Moore, et al.
Journal of Neurology|July 17, 2017
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathyStéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, et al.
Orphanet Journal of Rare Diseases|January 24, 2024
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatmentsEmmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, et al.
Journal of Neurology|September 24, 2021
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohortSusana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registryBenoît Sanson, Abderhmane Slioui, Jérémy Garcia, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2024
<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, et al.
Journal of the American College of Cardiology|October 6, 2022
Cardiac Outcomes in Adults With Mitochondrial DiseasesKonstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, et al.
European Journal of Human Genetics : EJHG|December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetranceLaurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
Orphanet Journal of Rare Diseases|October 27, 2021
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseasesLucie Isoline Pisella, Sara Fernandes, Guilhem Solé, et al.
European Heart Journal|March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry dataRaphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.
Pageof 17