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Volker Straub

Showing results (211-220 of 374) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessAna Töpf, Katherine Johnson, Adam Bates, et al.
Human Molecular Genetics|February 18, 2003
Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseKiyomi Taniguchi, Kazuhiro Kobayashi, Kayoko Saito, et al.
Iscience|July 24, 2023
Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxationMengjie Zhu, Fabian Metzen, Mark Hopkinson, et al.
Scientific Reports|October 3, 2019
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Scientific Reports|November 11, 2020
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
European Journal of Neurology|January 1, 2025
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle crampsAlba Segarra-Casas, Pablo Iruzubieta, Solange Kapetanovic, et al.
Neurology|January 13, 2025
Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART StudyHugh J McMillan, Giovanni Baranello, Michelle A Farrar, et al.
Journal of Cachexia, Sarcopenia and Muscle|April 24, 2018
Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophiesPietro Spitali, Kristina Hettne, Roula Tsonaka, et al.
Brain : a Journal of Neurology|November 26, 2013
Natural history of pulmonary function in collagen VI-related myopathiesA Reghan Foley, Susana Quijano-Roy, James Collins, et al.
Pageof 38

Showing results (211-220 of 374) with videos related to

Sort By:
Pageof 38
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessAna Töpf, Katherine Johnson, Adam Bates, et al.
Human Molecular Genetics|February 18, 2003
Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseKiyomi Taniguchi, Kazuhiro Kobayashi, Kayoko Saito, et al.
Iscience|July 24, 2023
Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxationMengjie Zhu, Fabian Metzen, Mark Hopkinson, et al.
Scientific Reports|October 3, 2019
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Scientific Reports|November 11, 2020
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
European Journal of Neurology|January 1, 2025
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle crampsAlba Segarra-Casas, Pablo Iruzubieta, Solange Kapetanovic, et al.
Neurology|January 13, 2025
Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART StudyHugh J McMillan, Giovanni Baranello, Michelle A Farrar, et al.
Journal of Cachexia, Sarcopenia and Muscle|April 24, 2018
Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophiesPietro Spitali, Kristina Hettne, Roula Tsonaka, et al.
Brain : a Journal of Neurology|November 26, 2013
Natural history of pulmonary function in collagen VI-related myopathiesA Reghan Foley, Susana Quijano-Roy, James Collins, et al.
Pageof 38