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Steven A Moore

Showing results (111-120 of 141) with videos related to

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Skeletal Muscle|June 2, 2018
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophyAustin A Larson, Peter R Baker, Miroslav P Milev, et al.
Elife|May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionJeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.
American Journal of Human Genetics|May 4, 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian DiseaseHernan D Gonorazky, Sergey Naumenko, Arun K Ramani, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2009
Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycanRenzhi Han, Motoi Kanagawa, Takako Yoshida-Moriguchi, et al.
American Journal of Human Genetics|March 5, 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian DiseaseHernan D Gonorazky, Sergey Naumenko, Arun K Ramani, et al.
Neuron|June 12, 2003
Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilizationFumiaki Saito, Steven A Moore, Rita Barresi, et al.
Neuromuscular Disorders : NMD|April 19, 2017
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rodsSandra Donkervoort, Sophelia H S Chan, Leslie H Hayes, et al.
Human Mutation|April 2, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesChristoph Bachmann, Faiza Noreen, Nicol C Voermans, et al.
Nature Genetics|April 24, 2012
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeTobias Willer, Hane Lee, Mark Lommel, et al.
Nature|September 26, 2014
Joiner et al. replyMei-Ling A Joiner, Olha M Koval, Jingdong Li, et al.
Pageof 15

Showing results (111-120 of 141) with videos related to

Sort By:
Pageof 15
Skeletal Muscle|June 2, 2018
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophyAustin A Larson, Peter R Baker, Miroslav P Milev, et al.
Elife|May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionJeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.
American Journal of Human Genetics|May 4, 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian DiseaseHernan D Gonorazky, Sergey Naumenko, Arun K Ramani, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2009
Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycanRenzhi Han, Motoi Kanagawa, Takako Yoshida-Moriguchi, et al.
American Journal of Human Genetics|March 5, 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian DiseaseHernan D Gonorazky, Sergey Naumenko, Arun K Ramani, et al.
Neuron|June 12, 2003
Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilizationFumiaki Saito, Steven A Moore, Rita Barresi, et al.
Neuromuscular Disorders : NMD|April 19, 2017
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rodsSandra Donkervoort, Sophelia H S Chan, Leslie H Hayes, et al.
Human Mutation|April 2, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesChristoph Bachmann, Faiza Noreen, Nicol C Voermans, et al.
Nature Genetics|April 24, 2012
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeTobias Willer, Hane Lee, Mark Lommel, et al.
Nature|September 26, 2014
Joiner et al. replyMei-Ling A Joiner, Olha M Koval, Jingdong Li, et al.
Pageof 15