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Sandra T Cooper

Showing results (61-70 of 97) with videos related to

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American Journal of Medical Genetics. Part A|June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.
Human Mutation|September 9, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonateLauren S Akesson, Adam Bournazos, Andrew Fennell, et al.
Human Molecular Genetics|March 15, 2023
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disordersFrances J Evesson, Gregory Dziaduch, Samantha J Bryen, et al.
American Journal of Human Genetics|August 27, 2019
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome AssemblySamantha J Bryen, Himanshu Joshi, Frances J Evesson, et al.
Human Molecular Genetics|August 27, 2015
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibresMichaela Yuen, Sandra T Cooper, Steve B Marston, et al.
Neurology|October 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular DystrophyVolker Straub, Amanda R Clause, Sandra Donkervoort, et al.
Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.
Journal of Neuropathology and Experimental Neurology|March 18, 2011
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretchLeigh B Waddell, Frances A Lemckert, Xi F Zheng, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Pageof 10

Showing results (61-70 of 97) with videos related to

Sort By:
Pageof 10
American Journal of Medical Genetics. Part A|June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.
Human Mutation|September 9, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonateLauren S Akesson, Adam Bournazos, Andrew Fennell, et al.
Human Molecular Genetics|March 15, 2023
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disordersFrances J Evesson, Gregory Dziaduch, Samantha J Bryen, et al.
American Journal of Human Genetics|August 27, 2019
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome AssemblySamantha J Bryen, Himanshu Joshi, Frances J Evesson, et al.
Human Molecular Genetics|August 27, 2015
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibresMichaela Yuen, Sandra T Cooper, Steve B Marston, et al.
Neurology|October 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular DystrophyVolker Straub, Amanda R Clause, Sandra Donkervoort, et al.
Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.
Journal of Neuropathology and Experimental Neurology|March 18, 2011
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretchLeigh B Waddell, Frances A Lemckert, Xi F Zheng, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Pageof 10