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 (311-320 of 374) with videos related to

Pageof 38
Sort By:
Muscle & Nerve|February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyUrsula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.
European Journal of Human Genetics : EJHG|October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
Frontiers in Genetics|July 29, 2020
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular DystrophyChiara Passarelli, Rita Selvatici, Alberto Carrieri, et al.
Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|September 11, 2017
MRI in sarcoglycanopathies: a large international cohort studyGiorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, et al.
Brain : a Journal of Neurology|July 24, 2024
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progressionAlexandra Monceau, Rasya Gokul Nath, Xavier Suárez-Calvet, et al.
Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Brain : a Journal of Neurology|June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in EuropeGorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.
Pageof 38

Showing results (311-320 of 374) with videos related to

Sort By:
Pageof 38
Muscle & Nerve|February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyUrsula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.
European Journal of Human Genetics : EJHG|October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
Frontiers in Genetics|July 29, 2020
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular DystrophyChiara Passarelli, Rita Selvatici, Alberto Carrieri, et al.
Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|September 11, 2017
MRI in sarcoglycanopathies: a large international cohort studyGiorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, et al.
Brain : a Journal of Neurology|July 24, 2024
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progressionAlexandra Monceau, Rasya Gokul Nath, Xavier Suárez-Calvet, et al.
Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Brain : a Journal of Neurology|June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in EuropeGorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.
Pageof 38