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Volker Straub

Showing results (271-280 of 374) with videos related to

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Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variantsJanneke C van den Bergen, Monika Hiller, Stefan Böhringer, et al.
Neurology|May 26, 2022
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe DiseaseMazen M Dimachkie, Richard J Barohn, Barry Byrne, et al.
Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.
The Lancet. Neurology|August 29, 2009
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyMaria Kinali, Virginia Arechavala-Gomeza, Lucy Feng, et al.
Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.
Muscle & Nerve|January 25, 2019
Revised upper limb module for spinal muscular atrophy: 12 month changesMaria Carmela Pera, Giorgia Coratti, Elena S Mazzone, et al.
Neurology. Genetics|November 3, 2025
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial ReadinessMeredith K James, Megan A Iammarino, Natalie F Reash, et al.
Scientific Reports|February 9, 2024
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degenerationPatricia Piñol-Jurado, José Verdú-Díaz, Esther Fernández-Simón, et al.
Neuromuscular Disorders : NMD|September 13, 2023
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosisDiana Esteller, Jasper Morrow, Jorge Alonso-Pérez, et al.
Pageof 38

Showing results (271-280 of 374) with videos related to

Sort By:
Pageof 38
Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variantsJanneke C van den Bergen, Monika Hiller, Stefan Böhringer, et al.
Neurology|May 26, 2022
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe DiseaseMazen M Dimachkie, Richard J Barohn, Barry Byrne, et al.
Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.
The Lancet. Neurology|August 29, 2009
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyMaria Kinali, Virginia Arechavala-Gomeza, Lucy Feng, et al.
Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.
Muscle & Nerve|January 25, 2019
Revised upper limb module for spinal muscular atrophy: 12 month changesMaria Carmela Pera, Giorgia Coratti, Elena S Mazzone, et al.
Neurology. Genetics|November 3, 2025
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial ReadinessMeredith K James, Megan A Iammarino, Natalie F Reash, et al.
Scientific Reports|February 9, 2024
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degenerationPatricia Piñol-Jurado, José Verdú-Díaz, Esther Fernández-Simón, et al.
Neuromuscular Disorders : NMD|September 13, 2023
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosisDiana Esteller, Jasper Morrow, Jorge Alonso-Pérez, et al.
Pageof 38