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

A Reghan Foley

Showing results (61-70 of 114) with videos related to

Pageof 12
Sort By:
Neurology|February 5, 2022
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With <i>SMCHD1</i> VariantsPayam Mohassel, Ning Chang, Kaoru Inoue, et al.
Neurology. Genetics|June 25, 2024
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related DystrophyA Reghan Foley, Pomi Yun, Meganne E Leach, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.
The FEBS Journal|January 17, 2025
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Annals of Clinical and Translational Neurology|February 4, 2024
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathySandra Donkervoort, Payam Mohassel, Melanie O'Leary, et al.
JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.
Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.
Biorxiv : the Preprint Server for Biology|June 21, 2024
Effects of HMGCR deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Pageof 12

Showing results (61-70 of 114) with videos related to

Sort By:
Pageof 12
Neurology|February 5, 2022
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With <i>SMCHD1</i> VariantsPayam Mohassel, Ning Chang, Kaoru Inoue, et al.
Neurology. Genetics|June 25, 2024
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related DystrophyA Reghan Foley, Pomi Yun, Meganne E Leach, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.
The FEBS Journal|January 17, 2025
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Annals of Clinical and Translational Neurology|February 4, 2024
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathySandra Donkervoort, Payam Mohassel, Melanie O'Leary, et al.
JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.
Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.
Biorxiv : the Preprint Server for Biology|June 21, 2024
Effects of HMGCR deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Pageof 12