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Volker Straub

Showing results (201-210 of 374) with videos related to

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Annals of Clinical and Translational Neurology|March 19, 2026
Cracking the Code: Genotype-Phenotype Correlation Models in SarcoglycanopathiesLeonela Luce, Goknur Selen Kocak, José Verdú-Díaz, et al.
Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.
Annals of Clinical and Translational Neurology|April 29, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9Lindsay B Murphy, Olivia Schreiber-Katz, Karen Rafferty, et al.
Journal of Neurology|April 12, 2017
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical researchLibby Wood, Isabell Cordts, Antonio Atalaia, et al.
Neurology|May 13, 2016
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weaknessZoltan Lukacs, Paulina Nieves Cobos, Stephan Wenninger, et al.
Neurology|October 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular DystrophyVolker Straub, Amanda R Clause, Sandra Donkervoort, et al.
European Journal of Human Genetics : EJHG|March 16, 2017
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian populationStojan Perić, Jelena Nikodinović Glumac, Ana Töpf, et al.
Human Molecular Genetics|December 17, 2013
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and miceYaqun Zou, Daniela Zwolanek, Yayoi Izu, et al.
Journal of Medical Genetics|April 8, 2022
<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrumMagdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, et al.
Frontiers in Medicine|July 5, 2024
Development of the CDISC Pediatrics User Guide: a CDISC and conect4children collaborationJohn Owen, Anando Sen, Beate Aurich, et al.
Pageof 38

Showing results (201-210 of 374) with videos related to

Sort By:
Pageof 38
Annals of Clinical and Translational Neurology|March 19, 2026
Cracking the Code: Genotype-Phenotype Correlation Models in SarcoglycanopathiesLeonela Luce, Goknur Selen Kocak, José Verdú-Díaz, et al.
Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.
Annals of Clinical and Translational Neurology|April 29, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9Lindsay B Murphy, Olivia Schreiber-Katz, Karen Rafferty, et al.
Journal of Neurology|April 12, 2017
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical researchLibby Wood, Isabell Cordts, Antonio Atalaia, et al.
Neurology|May 13, 2016
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weaknessZoltan Lukacs, Paulina Nieves Cobos, Stephan Wenninger, et al.
Neurology|October 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular DystrophyVolker Straub, Amanda R Clause, Sandra Donkervoort, et al.
European Journal of Human Genetics : EJHG|March 16, 2017
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian populationStojan Perić, Jelena Nikodinović Glumac, Ana Töpf, et al.
Human Molecular Genetics|December 17, 2013
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and miceYaqun Zou, Daniela Zwolanek, Yayoi Izu, et al.
Journal of Medical Genetics|April 8, 2022
<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrumMagdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, et al.
Frontiers in Medicine|July 5, 2024
Development of the CDISC Pediatrics User Guide: a CDISC and conect4children collaborationJohn Owen, Anando Sen, Beate Aurich, et al.
Pageof 38