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Sandra T Cooper

Showing results (31-40 of 97) with videos related to

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The Journal of Biological Chemistry|July 3, 2010
Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathwayFrances J Evesson, Rachel A Peat, Angela Lek, et al.
Plos One|August 14, 2014
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patientDavid K Miller, Minal J Menezes, Cas Simons, et al.
Cellular Signalling|February 14, 2017
Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signallingAnn-Katrin Piper, Samuel E Ross, Gregory M Redpath, et al.
Neuromuscular Disorders : NMD|April 26, 2020
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patientsMagdalena Mroczek, Hacer Durmus, Sunita Bijarnia-Mahay, et al.
Journal of Neuropathology and Experimental Neurology|August 22, 2008
Disease severity and thin filament regulation in M9R TPM3 nemaline myopathyBiljana Ilkovski, Nancy Mokbel, Raymond A Lewis, et al.
Molecular Genetics & Genomic Medicine|October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" CohortClara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.
Frontiers in Neurology|February 13, 2023
Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous <i>LAMA2</i> missense variantMatthew Katz, Leigh B Waddell, Michaela Yuen, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 22, 2013
Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repairAngela Lek, Frances J Evesson, Frances A Lemckert, et al.
Orphanet Journal of Rare Diseases|December 19, 2013
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaLisa G Riley, Minal J Menezes, Joëlle Rudinger-Thirion, et al.
Structure (London, England : 1993)|November 19, 2013
Alternate splicing of dysferlin C2A confers Ca²⁺-dependent and Ca²⁺-independent binding for membrane repairKerry Fuson, Anne Rice, Ryan Mahling, et al.
Pageof 10

Showing results (31-40 of 97) with videos related to

Sort By:
Pageof 10
The Journal of Biological Chemistry|July 3, 2010
Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathwayFrances J Evesson, Rachel A Peat, Angela Lek, et al.
Plos One|August 14, 2014
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patientDavid K Miller, Minal J Menezes, Cas Simons, et al.
Cellular Signalling|February 14, 2017
Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signallingAnn-Katrin Piper, Samuel E Ross, Gregory M Redpath, et al.
Neuromuscular Disorders : NMD|April 26, 2020
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patientsMagdalena Mroczek, Hacer Durmus, Sunita Bijarnia-Mahay, et al.
Journal of Neuropathology and Experimental Neurology|August 22, 2008
Disease severity and thin filament regulation in M9R TPM3 nemaline myopathyBiljana Ilkovski, Nancy Mokbel, Raymond A Lewis, et al.
Molecular Genetics & Genomic Medicine|October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" CohortClara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.
Frontiers in Neurology|February 13, 2023
Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous <i>LAMA2</i> missense variantMatthew Katz, Leigh B Waddell, Michaela Yuen, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 22, 2013
Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repairAngela Lek, Frances J Evesson, Frances A Lemckert, et al.
Orphanet Journal of Rare Diseases|December 19, 2013
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaLisa G Riley, Minal J Menezes, Joëlle Rudinger-Thirion, et al.
Structure (London, England : 1993)|November 19, 2013
Alternate splicing of dysferlin C2A confers Ca²⁺-dependent and Ca²⁺-independent binding for membrane repairKerry Fuson, Anne Rice, Ryan Mahling, et al.
Pageof 10