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 (41-50 of 114) with videos related to

Pageof 12
Sort By:
Annals of Neurology|February 1, 2011
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophyA Reghan Foley, Ying Hu, Yaqun Zou, et al.
Brain : a Journal of Neurology|June 29, 2012
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron diseaseJanel O Johnson, J Raphael Gibbs, Andre Megarbane, et al.
Science Translational Medicine|October 12, 2018
PIEZO2 mediates injury-induced tactile pain in mice and humansMarcin Szczot, Jaquette Liljencrantz, Nima Ghitani, et al.
Neurology|May 20, 2021
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire StudyStacha F I Reumers, Frederik Braun, Jennifer E Spillane, et al.
Cell Reports|June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological diseaseRobert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.
Neurology|September 22, 2019
Adult <i>MTM1</i>-related myopathy carriers: Classification based on deep phenotypingBenjamin T Cocanougher, Lauren Flynn, Pomi Yun, et al.
HGG Advances|February 15, 2024
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implicationsJanelle Geist Hauserman, Chamindra G Laverty, Sandra Donkervoort, et al.
Brain : a Journal of Neurology|June 11, 2021
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohortDiana X Bharucha-Goebel, Gina Norato, Dimah Saade, et al.
Science Advances|July 9, 2019
An ultrafast system for signaling mechanical pain in human skinSaad S Nagi, Andrew G Marshall, Adarsh Makdani, et al.
Neuromuscular Disorders : NMD|March 10, 2026
Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of careJulie Bohill, Lucy Hickson, Erin Ward, et al.
Pageof 12

Showing results (41-50 of 114) with videos related to

Sort By:
Pageof 12
Annals of Neurology|February 1, 2011
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophyA Reghan Foley, Ying Hu, Yaqun Zou, et al.
Brain : a Journal of Neurology|June 29, 2012
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron diseaseJanel O Johnson, J Raphael Gibbs, Andre Megarbane, et al.
Science Translational Medicine|October 12, 2018
PIEZO2 mediates injury-induced tactile pain in mice and humansMarcin Szczot, Jaquette Liljencrantz, Nima Ghitani, et al.
Neurology|May 20, 2021
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire StudyStacha F I Reumers, Frederik Braun, Jennifer E Spillane, et al.
Cell Reports|June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological diseaseRobert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.
Neurology|September 22, 2019
Adult <i>MTM1</i>-related myopathy carriers: Classification based on deep phenotypingBenjamin T Cocanougher, Lauren Flynn, Pomi Yun, et al.
HGG Advances|February 15, 2024
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implicationsJanelle Geist Hauserman, Chamindra G Laverty, Sandra Donkervoort, et al.
Brain : a Journal of Neurology|June 11, 2021
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohortDiana X Bharucha-Goebel, Gina Norato, Dimah Saade, et al.
Science Advances|July 9, 2019
An ultrafast system for signaling mechanical pain in human skinSaad S Nagi, Andrew G Marshall, Adarsh Makdani, et al.
Neuromuscular Disorders : NMD|March 10, 2026
Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of careJulie Bohill, Lucy Hickson, Erin Ward, et al.
Pageof 12