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Kenneth H Fischbeck

Showing results (101-110 of 139) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|December 15, 2012
Common data elements for clinical research in Friedreich's ataxiaDavid R Lynch, Massimo Pandolfo, Jorg B Schulz, et al.
Rehabilitation Research and Practice|May 31, 2014
Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment toolMichael O Harris-Love, Lindsay Fernandez-Rhodes, Galen Joe, et al.
Orphanet Journal of Rare Diseases|May 1, 2015
Proceedings of the fourth international conference on central hypoventilationHa Trang, Jean-François Brunet, Hermann Rohrer, et al.
Brain Communications|December 11, 2023
Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth diseaseAbdoulaye Yalcouyé, Adriana P Rebelo, Lassana Cissé, et al.
Brain : a Journal of Neurology|July 15, 2005
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutationsKumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls, et al.
Neurology|November 17, 2017
Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophyRobert D Guber, Varun Takyar, Angela Kokkinis, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 21, 2009
Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/HrkJessica E Young, Gwenn A Garden, Refugio A Martinez, et al.
Neuromuscular Disorders : NMD|July 23, 2014
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeatChristopher Grunseich, Ilona R Kats, Laura C Bott, et al.
JCI Insight|November 25, 2016
ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in miceMahlet B Abera, Jingbo Xiao, Jonathan Nofziger, et al.
Brain and Behavior|May 5, 2025
Rare Variants Cause Charcot-Marie-Tooth Disease in Malian FamiliesAbdoulaye Yalcouyé, Lassana Cissé, Salimata Diarra, et al.
Pageof 14

Showing results (101-110 of 139) with videos related to

Sort By:
Pageof 14
Movement Disorders : Official Journal of the Movement Disorder Society|December 15, 2012
Common data elements for clinical research in Friedreich's ataxiaDavid R Lynch, Massimo Pandolfo, Jorg B Schulz, et al.
Rehabilitation Research and Practice|May 31, 2014
Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment toolMichael O Harris-Love, Lindsay Fernandez-Rhodes, Galen Joe, et al.
Orphanet Journal of Rare Diseases|May 1, 2015
Proceedings of the fourth international conference on central hypoventilationHa Trang, Jean-François Brunet, Hermann Rohrer, et al.
Brain Communications|December 11, 2023
Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth diseaseAbdoulaye Yalcouyé, Adriana P Rebelo, Lassana Cissé, et al.
Brain : a Journal of Neurology|July 15, 2005
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutationsKumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls, et al.
Neurology|November 17, 2017
Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophyRobert D Guber, Varun Takyar, Angela Kokkinis, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 21, 2009
Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/HrkJessica E Young, Gwenn A Garden, Refugio A Martinez, et al.
Neuromuscular Disorders : NMD|July 23, 2014
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeatChristopher Grunseich, Ilona R Kats, Laura C Bott, et al.
JCI Insight|November 25, 2016
ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in miceMahlet B Abera, Jingbo Xiao, Jonathan Nofziger, et al.
Brain and Behavior|May 5, 2025
Rare Variants Cause Charcot-Marie-Tooth Disease in Malian FamiliesAbdoulaye Yalcouyé, Lassana Cissé, Salimata Diarra, et al.
Pageof 14