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Steven A Moore

Showing results (131-140 of 141) with videos related to

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Human Mutation|February 15, 2022
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophyMegan A Waldrop, Steven A Moore, Katherine D Mathews, et al.
The Journal of Clinical Investigation|March 23, 2021
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calciumMartijn van de Locht, Sandra Donkervoort, Josine M de Winter, et al.
Journal of Neuropathology and Experimental Neurology|October 6, 2006
Limb-girdle muscular dystrophy in the United StatesSteven A Moore, Christopher J Shilling, Steven Westra, et al.
Neurology|July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutationKarlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
Brain : a Journal of Neurology|February 16, 2013
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathiesAnn E Davidson, Fazeel M Siddiqui, Michael A Lopez, et al.
Muscle & Nerve|July 22, 2014
Ataluren treatment of patients with nonsense mutation dystrophinopathyKatharine Bushby, Richard Finkel, Brenda Wong, 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.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
Nature Genetics|May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Pageof 15

Showing results (131-140 of 141) with videos related to

Sort By:
Pageof 15
Human Mutation|February 15, 2022
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophyMegan A Waldrop, Steven A Moore, Katherine D Mathews, et al.
The Journal of Clinical Investigation|March 23, 2021
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calciumMartijn van de Locht, Sandra Donkervoort, Josine M de Winter, et al.
Journal of Neuropathology and Experimental Neurology|October 6, 2006
Limb-girdle muscular dystrophy in the United StatesSteven A Moore, Christopher J Shilling, Steven Westra, et al.
Neurology|July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutationKarlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
Brain : a Journal of Neurology|February 16, 2013
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathiesAnn E Davidson, Fazeel M Siddiqui, Michael A Lopez, et al.
Muscle & Nerve|July 22, 2014
Ataluren treatment of patients with nonsense mutation dystrophinopathyKatharine Bushby, Richard Finkel, Brenda Wong, 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.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
Nature Genetics|May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Pageof 15