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Nicol Voermans

Showing results (21-30 of 47) with videos related to

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Neuromuscular Disorders : NMD|October 2, 2023
Pancreatitis in RYR1-related disordersDennis T Famili, Arti Mistry, Oleg Gerasimenko, et al.
Functional Neurology|December 5, 2014
High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptomsGaby Pons van Dijk, Elly van der Kooi, Anthony Behin, et al.
Journal of Neuromuscular Diseases|November 6, 2017
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1Carlyn Kouwenberg, Johann Bohm, Corrie Erasmus, et al.
Journal of Neuromuscular Diseases|December 26, 2025
A toolkit for new facioscapulohumeral muscular dystrophy trial sitesJoost Kools, Lawrence Korngut, Janet Petrillo Ballantyne, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 12, 2025
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation formGiulia Ricci, Francesca Torri, Lucia Ruggiero, et al.
European Journal of Human Genetics : EJHG|February 13, 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathiesMaartje Pennings, Rowdy P P Meijer, Monique Gerrits, et al.
Human Molecular Genetics|October 4, 2018
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2Richard J L F Lemmers, Patrick J van der Vliet, Jeroen P Vreijling, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 14, 2018
A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophyRianne J M Goselink, Caroline R van Kernebeek, Karlien Mul, et al.
Science Signaling|July 7, 2016
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalitiesRubén J Lopez, Susan Byrne, Mirko Vukcevic, et al.
Human Molecular Genetics|May 29, 2015
Epigenetic changes as a common trigger of muscle weakness in congenital myopathiesOri Rokach, Marijana Sekulic-Jablanovic, Nicol Voermans, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
Neuromuscular Disorders : NMD|October 2, 2023
Pancreatitis in RYR1-related disordersDennis T Famili, Arti Mistry, Oleg Gerasimenko, et al.
Functional Neurology|December 5, 2014
High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptomsGaby Pons van Dijk, Elly van der Kooi, Anthony Behin, et al.
Journal of Neuromuscular Diseases|November 6, 2017
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1Carlyn Kouwenberg, Johann Bohm, Corrie Erasmus, et al.
Journal of Neuromuscular Diseases|December 26, 2025
A toolkit for new facioscapulohumeral muscular dystrophy trial sitesJoost Kools, Lawrence Korngut, Janet Petrillo Ballantyne, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 12, 2025
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation formGiulia Ricci, Francesca Torri, Lucia Ruggiero, et al.
European Journal of Human Genetics : EJHG|February 13, 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathiesMaartje Pennings, Rowdy P P Meijer, Monique Gerrits, et al.
Human Molecular Genetics|October 4, 2018
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2Richard J L F Lemmers, Patrick J van der Vliet, Jeroen P Vreijling, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 14, 2018
A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophyRianne J M Goselink, Caroline R van Kernebeek, Karlien Mul, et al.
Science Signaling|July 7, 2016
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalitiesRubén J Lopez, Susan Byrne, Mirko Vukcevic, et al.
Human Molecular Genetics|May 29, 2015
Epigenetic changes as a common trigger of muscle weakness in congenital myopathiesOri Rokach, Marijana Sekulic-Jablanovic, Nicol Voermans, et al.
Pageof 5