Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Volker Straub

Showing results (321-330 of 374) with videos related to

Pageof 38
Sort By:
American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.
Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Neurology. Genetics|July 31, 2025
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction AnalysisCarla Florencia Bolano-Diaz, Harmen Reyngoudt, Ian J Wilson, et al.
Journal of Cell Science|March 6, 2016
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyChiara Scotton, Matteo Bovolenta, Elena Schwartz, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentManuela Wiessner, Andreas Roos, Christopher J Munn, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasetsBen Weisburd, Rakshya Sharma, Villem Pata, et al.
Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i>-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsBen Weisburd, Rakshya Sharma, Villem Pata, et al.
Pageof 38

Showing results (321-330 of 374) with videos related to

Sort By:
Pageof 38
American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.
Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Neurology. Genetics|July 31, 2025
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction AnalysisCarla Florencia Bolano-Diaz, Harmen Reyngoudt, Ian J Wilson, et al.
Journal of Cell Science|March 6, 2016
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyChiara Scotton, Matteo Bovolenta, Elena Schwartz, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentManuela Wiessner, Andreas Roos, Christopher J Munn, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasetsBen Weisburd, Rakshya Sharma, Villem Pata, et al.
Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i>-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsBen Weisburd, Rakshya Sharma, Villem Pata, et al.
Pageof 38