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Derek J Blake

Showing results (31-40 of 60) with videos related to

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Scientific Reports|February 4, 2017
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystoniaKaren Grütz, Philip Seibler, Anne Weissbach, et al.
Developmental Biology|May 22, 2007
Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNSJörn E Schröder, Marion R Tegeler, Uli Grosshans, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 3, 2013
Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functionsLei Xu, Pei Juan Lu, Chi-Hsien Wang, et al.
Communications Biology|November 12, 2024
Single-cell transcriptomics reveals the molecular basis of human iPS cell differentiation into ectodermal ocular lineagesLaura Howard, Yuki Ishikawa, Tomohiko Katayama, et al.
Human Molecular Genetics|July 21, 2009
Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expressionJunxia Tang, Robert P LeGros, Natalia Louneva, et al.
Eneuro|September 14, 2021
Isoform-Specific Reduction of the Basic Helix-Loop-Helix Transcription Factor TCF4 Levels in Huntington's DiseaseKaja Nurm, Mari Sepp, Carla Castany-Pladevall, et al.
Human Molecular Genetics|December 10, 2002
Functional requirements for fukutin-related protein in the Golgi apparatusChris T Esapa, Matthew A Benson, Jörn E Schröder, et al.
Human Molecular Genetics|January 4, 2007
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinAChristopher T Esapa, Adrian Waite, Matthew Locke, et al.
Muscle & Nerve|June 8, 2007
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivoElizabeth Keramaris-Vrantsis, Pei J Lu, Timothy Doran, et al.
Neurobiology of Disease|November 29, 2016
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndromeJianfeng Xiao, Satya R Vemula, Yi Xue, et al.
Pageof 6

Showing results (31-40 of 60) with videos related to

Sort By:
Pageof 6
Scientific Reports|February 4, 2017
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystoniaKaren Grütz, Philip Seibler, Anne Weissbach, et al.
Developmental Biology|May 22, 2007
Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNSJörn E Schröder, Marion R Tegeler, Uli Grosshans, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 3, 2013
Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functionsLei Xu, Pei Juan Lu, Chi-Hsien Wang, et al.
Communications Biology|November 12, 2024
Single-cell transcriptomics reveals the molecular basis of human iPS cell differentiation into ectodermal ocular lineagesLaura Howard, Yuki Ishikawa, Tomohiko Katayama, et al.
Human Molecular Genetics|July 21, 2009
Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expressionJunxia Tang, Robert P LeGros, Natalia Louneva, et al.
Eneuro|September 14, 2021
Isoform-Specific Reduction of the Basic Helix-Loop-Helix Transcription Factor TCF4 Levels in Huntington's DiseaseKaja Nurm, Mari Sepp, Carla Castany-Pladevall, et al.
Human Molecular Genetics|December 10, 2002
Functional requirements for fukutin-related protein in the Golgi apparatusChris T Esapa, Matthew A Benson, Jörn E Schröder, et al.
Human Molecular Genetics|January 4, 2007
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinAChristopher T Esapa, Adrian Waite, Matthew Locke, et al.
Muscle & Nerve|June 8, 2007
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivoElizabeth Keramaris-Vrantsis, Pei J Lu, Timothy Doran, et al.
Neurobiology of Disease|November 29, 2016
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndromeJianfeng Xiao, Satya R Vemula, Yi Xue, et al.
Pageof 6