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Volker Straub

Showing results (171-180 of 374) with videos related to

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Human Mutation|June 10, 2020
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNCHeike Kölbel, Andreas Roos, Peter F M van der Ven, et al.
Neuromuscular Disorders : NMD|February 8, 2011
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodiesHarriet P Lo, Enrico Bertini, Massimiliano Mirabella, et al.
JAMA Neurology|November 13, 2013
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skippingKaren Anthony, Virginia Arechavala-Gomeza, Valeria Ricotti, et al.
Nature|July 26, 2002
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophiesDaniel E Michele, Rita Barresi, Motoi Kanagawa, et al.
Journal of Cachexia, Sarcopenia and Muscle|February 3, 2025
Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using <sup>23</sup>Na-MRI in Dysferlinopathy and Healthy ControlsMary A Neal, Carla F Bolano-Diaz, Mark Richardson, et al.
Neurology|March 7, 2020
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophyDiane E Frank, Frederick J Schnell, Cody Akana, et al.
Orphanet Journal of Rare Diseases|January 15, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe diseaseJorge A Bevilacqua, Maria Del Rosario Guecaimburu Ehuletche, Abayuba Perna, et al.
Developmental Medicine and Child Neurology|January 14, 2026
Screening for brain-related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screenerRuben Miranda, Pien M M Weerkamp, Anna Kolesnik, et al.
Annals of Neurology|October 15, 2019
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular DystrophyJohn Vissing, Katherine Johnson, Ana Töpf, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Pageof 38

Showing results (171-180 of 374) with videos related to

Sort By:
Pageof 38
Human Mutation|June 10, 2020
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNCHeike Kölbel, Andreas Roos, Peter F M van der Ven, et al.
Neuromuscular Disorders : NMD|February 8, 2011
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodiesHarriet P Lo, Enrico Bertini, Massimiliano Mirabella, et al.
JAMA Neurology|November 13, 2013
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skippingKaren Anthony, Virginia Arechavala-Gomeza, Valeria Ricotti, et al.
Nature|July 26, 2002
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophiesDaniel E Michele, Rita Barresi, Motoi Kanagawa, et al.
Journal of Cachexia, Sarcopenia and Muscle|February 3, 2025
Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using <sup>23</sup>Na-MRI in Dysferlinopathy and Healthy ControlsMary A Neal, Carla F Bolano-Diaz, Mark Richardson, et al.
Neurology|March 7, 2020
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophyDiane E Frank, Frederick J Schnell, Cody Akana, et al.
Orphanet Journal of Rare Diseases|January 15, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe diseaseJorge A Bevilacqua, Maria Del Rosario Guecaimburu Ehuletche, Abayuba Perna, et al.
Developmental Medicine and Child Neurology|January 14, 2026
Screening for brain-related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screenerRuben Miranda, Pien M M Weerkamp, Anna Kolesnik, et al.
Annals of Neurology|October 15, 2019
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular DystrophyJohn Vissing, Katherine Johnson, Ana Töpf, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Pageof 38