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Showing results (551-560 of 565) with videos related to

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Neuromuscular Disorders : NMD|June 18, 2016
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathiesRenata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, et al.
BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.
Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Neuromuscular Disorders : NMD|May 1, 2013
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysisN Dlamini, N C Voermans, S Lillis, et al.
Journal of the American College of Cardiology|October 6, 2022
Cardiac Outcomes in Adults With Mitochondrial DiseasesKonstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, et al.
Brain : a Journal of Neurology|March 13, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohortAlexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, et al.
Muscle & Nerve|July 22, 2014
Ataluren treatment of patients with nonsense mutation dystrophinopathyKatharine Bushby, Richard Finkel, Brenda Wong, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
Physical Therapy|May 7, 2016
Consensus on Exercise Reporting Template (CERT): Modified Delphi StudySusan C Slade, Clermont E Dionne, Martin Underwood, et al.
Pageof 57

Showing results (551-560 of 565) with videos related to

Sort By:
Pageof 57
Neuromuscular Disorders : NMD|June 18, 2016
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathiesRenata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, et al.
BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.
Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Neuromuscular Disorders : NMD|May 1, 2013
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysisN Dlamini, N C Voermans, S Lillis, et al.
Journal of the American College of Cardiology|October 6, 2022
Cardiac Outcomes in Adults With Mitochondrial DiseasesKonstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, et al.
Brain : a Journal of Neurology|March 13, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohortAlexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, et al.
Muscle & Nerve|July 22, 2014
Ataluren treatment of patients with nonsense mutation dystrophinopathyKatharine Bushby, Richard Finkel, Brenda Wong, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
Physical Therapy|May 7, 2016
Consensus on Exercise Reporting Template (CERT): Modified Delphi StudySusan C Slade, Clermont E Dionne, Martin Underwood, et al.
Pageof 57