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Sandra T Cooper

Showing results (71-80 of 97) with videos related to

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Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Acta Neuropathologica|May 2, 2015
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle functionTamar E Sztal, Mo Zhao, Caitlin Williams, et al.
Acta Neuropathologica Communications|March 2, 2026
Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopeniaFrances J Evesson, Gregory Dziaduch, Joe Yasa, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|May 13, 2026
Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disordersNatalie Y Lim, Christian E Meagher, Ann Bye, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
International Journal of Molecular Sciences|February 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head TraumaNicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, et al.
American Journal of Human Genetics|August 6, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemiaPauline Gaignard, Minal Menezes, Manuel Schiff, et al.
Acta Neuropathologica|April 27, 2026
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3Michaela Yuen, Katharine Zhang, Rhett G Marchant, et al.
Annals of Clinical and Translational Neurology|August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Biorxiv : the Preprint Server for Biology|May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular DystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Pageof 10

Showing results (71-80 of 97) with videos related to

Sort By:
Pageof 10
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Acta Neuropathologica|May 2, 2015
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle functionTamar E Sztal, Mo Zhao, Caitlin Williams, et al.
Acta Neuropathologica Communications|March 2, 2026
Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopeniaFrances J Evesson, Gregory Dziaduch, Joe Yasa, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|May 13, 2026
Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disordersNatalie Y Lim, Christian E Meagher, Ann Bye, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
International Journal of Molecular Sciences|February 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head TraumaNicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, et al.
American Journal of Human Genetics|August 6, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemiaPauline Gaignard, Minal Menezes, Manuel Schiff, et al.
Acta Neuropathologica|April 27, 2026
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3Michaela Yuen, Katharine Zhang, Rhett G Marchant, et al.
Annals of Clinical and Translational Neurology|August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Biorxiv : the Preprint Server for Biology|May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular DystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Pageof 10