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Kenneth H Fischbeck

Showing results (111-120 of 139) with videos related to

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Annals of Clinical and Translational Neurology|August 15, 2015
A randomized controlled trial of exercise in spinal and bulbar muscular atrophyJoseph A Shrader, Ilona Kats, Angela Kokkinis, et al.
Annals of Neurology|April 27, 2005
Distal spinal and bulbar muscular atrophy caused by dynactin mutationImke Puls, Shin J Oh, Charlotte J Sumner, et al.
Human Molecular Genetics|September 20, 2008
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20Melanie A Knight, Dena Hernandez, Scott J Diede, et al.
Neurology|June 30, 2012
A candidate gene for autoimmune myasthenia gravisGuida Landouré, Melanie A Knight, Horia Stanescu, et al.
Acta Neurologica Belgica|November 17, 2022
Hereditary spastic paraplegia in Mali: epidemiological and clinical featuresSalimata Diarra, Thomas Coulibaly, Kékouta Dembélé, et al.
American Journal of Human Genetics|April 12, 2003
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type VAnthony Antonellis, Rachel E Ellsworth, Nyamkhishig Sambuughin, et al.
Clinical Case Reports|June 4, 2021
Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian familyCheick A K Cissé, Lassana Cissé, Hamidou O Ba, et al.
The Lancet. Neurology|October 20, 2018
Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trialChristopher Grunseich, Ram Miller, Therese Swan, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 9, 2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseasesChristopher Grunseich, Nathan Sarkar, Joyce Lu, et al.
Molecular Cell|February 4, 2018
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene PromotersChristopher Grunseich, Isabel X Wang, Jason A Watts, et al.
Pageof 14

Showing results (111-120 of 139) with videos related to

Sort By:
Pageof 14
Annals of Clinical and Translational Neurology|August 15, 2015
A randomized controlled trial of exercise in spinal and bulbar muscular atrophyJoseph A Shrader, Ilona Kats, Angela Kokkinis, et al.
Annals of Neurology|April 27, 2005
Distal spinal and bulbar muscular atrophy caused by dynactin mutationImke Puls, Shin J Oh, Charlotte J Sumner, et al.
Human Molecular Genetics|September 20, 2008
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20Melanie A Knight, Dena Hernandez, Scott J Diede, et al.
Neurology|June 30, 2012
A candidate gene for autoimmune myasthenia gravisGuida Landouré, Melanie A Knight, Horia Stanescu, et al.
Acta Neurologica Belgica|November 17, 2022
Hereditary spastic paraplegia in Mali: epidemiological and clinical featuresSalimata Diarra, Thomas Coulibaly, Kékouta Dembélé, et al.
American Journal of Human Genetics|April 12, 2003
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type VAnthony Antonellis, Rachel E Ellsworth, Nyamkhishig Sambuughin, et al.
Clinical Case Reports|June 4, 2021
Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian familyCheick A K Cissé, Lassana Cissé, Hamidou O Ba, et al.
The Lancet. Neurology|October 20, 2018
Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trialChristopher Grunseich, Ram Miller, Therese Swan, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 9, 2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseasesChristopher Grunseich, Nathan Sarkar, Joyce Lu, et al.
Molecular Cell|February 4, 2018
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene PromotersChristopher Grunseich, Isabel X Wang, Jason A Watts, et al.
Pageof 14