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Guillaume Bassez

Showing results (81-90 of 92) with videos related to

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Nature Medicine|May 31, 2011
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophyCharlotte Fugier, Arnaud F Klein, Caroline Hammer, et al.
Brain : a Journal of Neurology|February 11, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patientsJoery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, et al.
Orphanet Journal of Rare Diseases|September 7, 2018
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare diseaseLibby Wood, Guillaume Bassez, Corinne Bleyenheuft, et al.
Neurology|January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementEmmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases|August 17, 2019
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare diseaseLibby Wood, Guillaume Bassez, Corinne Bleyenheuft, 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|February 14, 2024
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disordersAntonio Atalaia, Dagmar Wandrei, Nawel Lalout, 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.
Nature Communications|March 29, 2019
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsMontse Olivé, Martin Engvall, Gianina Ravenscroft, et al.
Plos One|February 6, 2016
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational StudyCeline Dogan, Marie De Antonio, Dalil Hamroun, et al.
Pageof 10

Showing results (81-90 of 92) with videos related to

Sort By:
Pageof 10
Nature Medicine|May 31, 2011
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophyCharlotte Fugier, Arnaud F Klein, Caroline Hammer, et al.
Brain : a Journal of Neurology|February 11, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patientsJoery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, et al.
Orphanet Journal of Rare Diseases|September 7, 2018
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare diseaseLibby Wood, Guillaume Bassez, Corinne Bleyenheuft, et al.
Neurology|January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementEmmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases|August 17, 2019
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare diseaseLibby Wood, Guillaume Bassez, Corinne Bleyenheuft, 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|February 14, 2024
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disordersAntonio Atalaia, Dagmar Wandrei, Nawel Lalout, 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.
Nature Communications|March 29, 2019
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsMontse Olivé, Martin Engvall, Gianina Ravenscroft, et al.
Plos One|February 6, 2016
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational StudyCeline Dogan, Marie De Antonio, Dalil Hamroun, et al.
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