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Volker Straub

Showing results (251-260 of 374) with videos related to

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Skeletal Muscle|December 4, 2015
Elusive sources of variability of dystrophin rescue by exon skippingMaria Candida Vila, Margaret Benny Klimek, James S Novak, et al.
Plos One|March 4, 2014
Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional studyTracey A Willis, Kieren G Hollingsworth, Anna Coombs, et al.
Cell Death & Disease|September 6, 2023
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlationsXavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, et al.
Journal of Neurology|September 27, 2019
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)Andrea Barp, Pascal Laforet, Luca Bello, et al.
European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Journal of Cachexia, Sarcopenia and Muscle|August 15, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2Zoe White, Laura Rufibach, Heather Gordish Dressman, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Neuromuscular Disorders : NMD|February 17, 2019
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose studyLoren D M Pena, Richard J Barohn, Barry J Byrne, et al.
Neuromuscular Disorders : NMD|August 23, 2024
Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophyHolly Borland, Ursula Moore, Heather Gordish Dressman, et al.
Neurology. Genetics|July 13, 2023
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent TrajectoriesRobert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, et al.
Pageof 38

Showing results (251-260 of 374) with videos related to

Sort By:
Pageof 38
Skeletal Muscle|December 4, 2015
Elusive sources of variability of dystrophin rescue by exon skippingMaria Candida Vila, Margaret Benny Klimek, James S Novak, et al.
Plos One|March 4, 2014
Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional studyTracey A Willis, Kieren G Hollingsworth, Anna Coombs, et al.
Cell Death & Disease|September 6, 2023
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlationsXavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, et al.
Journal of Neurology|September 27, 2019
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)Andrea Barp, Pascal Laforet, Luca Bello, et al.
European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Journal of Cachexia, Sarcopenia and Muscle|August 15, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2Zoe White, Laura Rufibach, Heather Gordish Dressman, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Neuromuscular Disorders : NMD|February 17, 2019
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose studyLoren D M Pena, Richard J Barohn, Barry J Byrne, et al.
Neuromuscular Disorders : NMD|August 23, 2024
Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophyHolly Borland, Ursula Moore, Heather Gordish Dressman, et al.
Neurology. Genetics|July 13, 2023
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent TrajectoriesRobert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, et al.
Pageof 38