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Sandra T Cooper

Showing results (51-60 of 97) with videos related to

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American Journal of Physiology. Cell Physiology|April 30, 2020
Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophyAnn-Katrin Piper, Reece A Sophocleous, Samuel E Ross, et al.
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
HGG Advances|July 18, 2022
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zoneSamantha J Bryen, Michaela Yuen, Himanshu Joshi, et al.
Neuromuscular Disorders : NMD|September 28, 2007
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesisHarriet P Lo, Sandra T Cooper, Frances J Evesson, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
Neuromuscular Disorders : NMD|February 8, 2011
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodiesHarriet P Lo, Enrico Bertini, Massimiliano Mirabella, et al.
Acta Neuropathologica Communications|January 18, 2023
Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout miceJoe Yasa, Claudia E Reed, Adam M Bournazos, et al.
Neuromuscular Disorders : NMD|November 11, 2019
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variantsHannah F Jones, Samantha J Bryen, Leigh B Waddell, et al.
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
European Journal of Human Genetics : EJHG|May 30, 2024
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathyLisa G Riley, Subrata Sabui, Hamid M Said, et al.
Pageof 10

Showing results (51-60 of 97) with videos related to

Sort By:
Pageof 10
American Journal of Physiology. Cell Physiology|April 30, 2020
Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophyAnn-Katrin Piper, Reece A Sophocleous, Samuel E Ross, et al.
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
HGG Advances|July 18, 2022
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zoneSamantha J Bryen, Michaela Yuen, Himanshu Joshi, et al.
Neuromuscular Disorders : NMD|September 28, 2007
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesisHarriet P Lo, Sandra T Cooper, Frances J Evesson, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
Neuromuscular Disorders : NMD|February 8, 2011
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodiesHarriet P Lo, Enrico Bertini, Massimiliano Mirabella, et al.
Acta Neuropathologica Communications|January 18, 2023
Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout miceJoe Yasa, Claudia E Reed, Adam M Bournazos, et al.
Neuromuscular Disorders : NMD|November 11, 2019
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variantsHannah F Jones, Samantha J Bryen, Leigh B Waddell, et al.
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
European Journal of Human Genetics : EJHG|May 30, 2024
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathyLisa G Riley, Subrata Sabui, Hamid M Said, et al.
Pageof 10