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Jonathan Baets

Showing results (31-40 of 135) with videos related to

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Human Mutation|July 9, 2009
The SCN1A variant database: a novel research and diagnostic toolLieve R F Claes, Liesbet Deprez, Arvid Suls, et al.
Neuromuscular Disorders : NMD|December 4, 2019
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiencyCarola Hedberg-Oldfors, Willem De Ridder, Ognian Kalev, et al.
Neurology|April 24, 2015
A novel AARS mutation in a family with dominant myeloneuropathyWilliam W Motley, Laurie B Griffin, Inès Mademan, et al.
Brain Communications|August 2, 2024
Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-SaguenayDaniele De Ritis, Laura Ferrè, Jonathan De Winter, et al.
Neurobiology of Aging|November 16, 2017
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypesCarlo Wilke, Jonathan Baets, Jan L De Bleecker, et al.
Journal of Neurology|February 22, 2011
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutationJosé Berciano, Jonathan Baets, Elena Gallardo, et al.
Orphanet Journal of Rare Diseases|February 15, 2017
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutationsStefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, et al.
Brain : a Journal of Neurology|December 13, 2022
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1AJonas Van Lent, Leen Vendredy, Elias Adriaenssens, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 11, 2019
CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cellsDavid Blocquel, Litao Sun, Zaneta Matuszek, et al.
Life Science Alliance|September 4, 2021
Biallelic <i>ADPRHL2</i> mutations in complex neuropathy affect ADP ribosylation and DNA damage responseDanique Beijer, Thomas Agnew, Johannes Gregor Matthias Rack, et al.
Pageof 14

Showing results (31-40 of 135) with videos related to

Sort By:
Pageof 14
Human Mutation|July 9, 2009
The SCN1A variant database: a novel research and diagnostic toolLieve R F Claes, Liesbet Deprez, Arvid Suls, et al.
Neuromuscular Disorders : NMD|December 4, 2019
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiencyCarola Hedberg-Oldfors, Willem De Ridder, Ognian Kalev, et al.
Neurology|April 24, 2015
A novel AARS mutation in a family with dominant myeloneuropathyWilliam W Motley, Laurie B Griffin, Inès Mademan, et al.
Brain Communications|August 2, 2024
Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-SaguenayDaniele De Ritis, Laura Ferrè, Jonathan De Winter, et al.
Neurobiology of Aging|November 16, 2017
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypesCarlo Wilke, Jonathan Baets, Jan L De Bleecker, et al.
Journal of Neurology|February 22, 2011
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutationJosé Berciano, Jonathan Baets, Elena Gallardo, et al.
Orphanet Journal of Rare Diseases|February 15, 2017
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutationsStefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, et al.
Brain : a Journal of Neurology|December 13, 2022
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1AJonas Van Lent, Leen Vendredy, Elias Adriaenssens, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 11, 2019
CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cellsDavid Blocquel, Litao Sun, Zaneta Matuszek, et al.
Life Science Alliance|September 4, 2021
Biallelic <i>ADPRHL2</i> mutations in complex neuropathy affect ADP ribosylation and DNA damage responseDanique Beijer, Thomas Agnew, Johannes Gregor Matthias Rack, et al.
Pageof 14