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Volker Straub

Showing results (121-130 of 374) with videos related to

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Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Neuromuscular Disorders : NMD|July 8, 2010
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationZagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, et al.
Journal of Medical Internet Research|May 30, 2025
The Potential to Leverage Real-World Data for Pediatric Clinical Trials: A Proof-of-Concept StudyJens Declerck, Joanne Lee, Anando Sen, et al.
Neuromuscular Disorders : NMD|December 28, 2021
Patient reported quality of life in limb girdle muscular dystrophyLaurel V Kovalchick, Kameron Bates, Jeffrey Statland, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneAnna Sarkozy, Christian Windpassinger, Judith Hudson, et al.
Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
Neuromuscular Disorders : NMD|April 10, 2023
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathologyHazim Kadhim, Eliane El-Howayek, Sandra Coppens, et al.
Endocrine Connections|September 28, 2023
Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy?Claire L Wood, Kieren G Hollingsworth, Edrina Bokaie, et al.
Disease Models & Mechanisms|February 19, 2020
Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)Raffaella Willmann, Joanne Lee, Cathy Turner, et al.
European Journal of Medical Genetics|January 13, 2023
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variantsRebecca L Poole, Mihaly Badonyi, Alison Cozens, et al.
Pageof 38

Showing results (121-130 of 374) with videos related to

Sort By:
Pageof 38
Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Neuromuscular Disorders : NMD|July 8, 2010
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationZagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, et al.
Journal of Medical Internet Research|May 30, 2025
The Potential to Leverage Real-World Data for Pediatric Clinical Trials: A Proof-of-Concept StudyJens Declerck, Joanne Lee, Anando Sen, et al.
Neuromuscular Disorders : NMD|December 28, 2021
Patient reported quality of life in limb girdle muscular dystrophyLaurel V Kovalchick, Kameron Bates, Jeffrey Statland, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneAnna Sarkozy, Christian Windpassinger, Judith Hudson, et al.
Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
Neuromuscular Disorders : NMD|April 10, 2023
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathologyHazim Kadhim, Eliane El-Howayek, Sandra Coppens, et al.
Endocrine Connections|September 28, 2023
Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy?Claire L Wood, Kieren G Hollingsworth, Edrina Bokaie, et al.
Disease Models & Mechanisms|February 19, 2020
Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)Raffaella Willmann, Joanne Lee, Cathy Turner, et al.
European Journal of Medical Genetics|January 13, 2023
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variantsRebecca L Poole, Mihaly Badonyi, Alison Cozens, et al.
Pageof 38