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Sandra T Cooper

Showing results (11-20 of 97) with videos related to

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Muscle & Nerve|July 15, 2011
Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genesLeigh B Waddell, Nicole Monnier, Sandra T Cooper, et al.
Journal of Neuropathology and Experimental Neurology|April 27, 2010
In vitro analysis of rod composition and actin dynamics in inherited myopathiesAurélie Vandebrouck, Ana Domazetovska, Nancy Mokbel, et al.
Traffic (Copenhagen, Denmark)|August 16, 2011
Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repairAngela Lek, Frances J Evesson, R Bryan Sutton, et al.
Traffic (Copenhagen, Denmark)|December 29, 2015
Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans-Golgi/Recycling FerlinsGregory M I Redpath, Reece A Sophocleous, Lynne Turnbull, et al.
Journal of Neuropathology and Experimental Neurology|April 20, 2005
The syntrophin-dystrobrevin subcomplex in human neuromuscular disordersAlison G Compton, Sandra T Cooper, Penelope M Hill, et al.
Nature Genetics|February 6, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicingRuebena Dawes, Adam M Bournazos, Samantha J Bryen, et al.
The Journal of Biological Chemistry|September 15, 2017
Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344PNatalie Woolger, Adam Bournazos, Reece A Sophocleous, et al.
Neuromuscular Disorders : NMD|April 12, 2026
Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrumZahra A Aleisa, Grace Yoon, Sylvie Friant, et al.
European Journal of Human Genetics : EJHG|May 27, 2024
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraintKatharine Y Zhang, Himanshu Joshi, Rhett G Marchant, et al.
Practical Neurology|April 24, 2017
A 'limb-girdle muscular dystrophy' responsive to asthma therapyEoin Mulroy, Roula Ghaoui, David Hutchinson, et al.
Pageof 10

Showing results (11-20 of 97) with videos related to

Sort By:
Pageof 10
Muscle & Nerve|July 15, 2011
Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genesLeigh B Waddell, Nicole Monnier, Sandra T Cooper, et al.
Journal of Neuropathology and Experimental Neurology|April 27, 2010
In vitro analysis of rod composition and actin dynamics in inherited myopathiesAurélie Vandebrouck, Ana Domazetovska, Nancy Mokbel, et al.
Traffic (Copenhagen, Denmark)|August 16, 2011
Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repairAngela Lek, Frances J Evesson, R Bryan Sutton, et al.
Traffic (Copenhagen, Denmark)|December 29, 2015
Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans-Golgi/Recycling FerlinsGregory M I Redpath, Reece A Sophocleous, Lynne Turnbull, et al.
Journal of Neuropathology and Experimental Neurology|April 20, 2005
The syntrophin-dystrobrevin subcomplex in human neuromuscular disordersAlison G Compton, Sandra T Cooper, Penelope M Hill, et al.
Nature Genetics|February 6, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicingRuebena Dawes, Adam M Bournazos, Samantha J Bryen, et al.
The Journal of Biological Chemistry|September 15, 2017
Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344PNatalie Woolger, Adam Bournazos, Reece A Sophocleous, et al.
Neuromuscular Disorders : NMD|April 12, 2026
Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrumZahra A Aleisa, Grace Yoon, Sylvie Friant, et al.
European Journal of Human Genetics : EJHG|May 27, 2024
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraintKatharine Y Zhang, Himanshu Joshi, Rhett G Marchant, et al.
Practical Neurology|April 24, 2017
A 'limb-girdle muscular dystrophy' responsive to asthma therapyEoin Mulroy, Roula Ghaoui, David Hutchinson, et al.
Pageof 10