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Steven A Moore

Showing results (71-80 of 141) with videos related to

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Neurology|March 15, 2015
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotypeDiana X Bharucha-Goebel, Erin Neil, Sandra Donkervoort, et al.
Neuromuscular Disorders : NMD|May 16, 2018
Uniparental disomy unveils a novel recessive mutation in POMT2Brianna N Brun, Tobias Willer, Benjamin W Darbro, et al.
Molecular Genetics and Metabolism|April 5, 2026
Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screeningLaura E Case, Erin Huggins, Harrison N Jones, et al.
Nature Materials|December 18, 2019
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cellsAshley J Earle, Tyler J Kirby, Gregory R Fedorchak, et al.
JCI Insight|October 21, 2025
Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscleHailey J Hermann, Ryan D Wuebbles, Marisela Dagda, et al.
Prenatal Diagnosis|March 7, 2009
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish familiesWendy Chang, Thomas L Winder, Charles A LeDuc, et al.
Plos Genetics|May 22, 2015
Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathwayGeorge Dialynas, Om K Shrestha, Jessica M Ponce, et al.
Annals of Clinical and Translational Neurology|April 17, 2025
UDP-glucose dehydrogenase variants cause dystroglycanopathyAnna M Reelfs, Carrie M Stephan, Theresa M Czech, et al.
Toxicologic Pathology|October 5, 2017
Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker QuantificationKristin Wilson, Crystal Faelan, Janet C Patterson-Kane, et al.
The Journal of Biological Chemistry|August 21, 2014
Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissuesKei-ichiro Inamori, Tobias Willer, Yuji Hara, et al.
Pageof 15

Showing results (71-80 of 141) with videos related to

Sort By:
Pageof 15
Neurology|March 15, 2015
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotypeDiana X Bharucha-Goebel, Erin Neil, Sandra Donkervoort, et al.
Neuromuscular Disorders : NMD|May 16, 2018
Uniparental disomy unveils a novel recessive mutation in POMT2Brianna N Brun, Tobias Willer, Benjamin W Darbro, et al.
Molecular Genetics and Metabolism|April 5, 2026
Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screeningLaura E Case, Erin Huggins, Harrison N Jones, et al.
Nature Materials|December 18, 2019
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cellsAshley J Earle, Tyler J Kirby, Gregory R Fedorchak, et al.
JCI Insight|October 21, 2025
Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscleHailey J Hermann, Ryan D Wuebbles, Marisela Dagda, et al.
Prenatal Diagnosis|March 7, 2009
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish familiesWendy Chang, Thomas L Winder, Charles A LeDuc, et al.
Plos Genetics|May 22, 2015
Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathwayGeorge Dialynas, Om K Shrestha, Jessica M Ponce, et al.
Annals of Clinical and Translational Neurology|April 17, 2025
UDP-glucose dehydrogenase variants cause dystroglycanopathyAnna M Reelfs, Carrie M Stephan, Theresa M Czech, et al.
Toxicologic Pathology|October 5, 2017
Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker QuantificationKristin Wilson, Crystal Faelan, Janet C Patterson-Kane, et al.
The Journal of Biological Chemistry|August 21, 2014
Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissuesKei-ichiro Inamori, Tobias Willer, Yuji Hara, et al.
Pageof 15