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Kenneth H Fischbeck

Showing results (121-130 of 139) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|November 23, 2023
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8Patra Yeetong, Mohamed E Dembélé, Monnat Pongpanich, et al.
Science Translational Medicine|December 23, 2016
Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophyMaria Josè Polanco, Sara Parodi, Diana Piol, et al.
American Journal of Human Genetics|April 24, 2004
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Ying-Zhang Chen, Craig L Bennett, Huy M Huynh, et al.
Nature Genetics|December 29, 2009
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2CGuida Landouré, Anselm A Zdebik, Tara L Martinez, et al.
Frontiers in Genetics|December 3, 2024
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from MaliSalia Bamba, Lala Sidibé, Seybou H Diallo, et al.
The Lancet. Neurology|January 11, 2011
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trialLindsay E Fernández-Rhodes, Angela D Kokkinis, Michelle J White, et al.
Brain : a Journal of Neurology|May 13, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMagdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, et al.
Science Advances|August 21, 2021
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activityWooi F Lim, Mitra Forouhan, Thomas C Roberts, et al.
Frontiers in Neurology|October 10, 2024
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findingsLassana Cissé, Salia Bamba, Seybou H Diallo, et al.
Journal of Huntington'S Disease|March 21, 2022
Clinical and Genetic Aspects of Huntington's Disease in the Malian PopulationAbdoulaye Bocoum, Toumany Coulibaly, Madani Ouologuem, et al.
Pageof 14

Showing results (121-130 of 139) with videos related to

Sort By:
Pageof 14
Movement Disorders : Official Journal of the Movement Disorder Society|November 23, 2023
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8Patra Yeetong, Mohamed E Dembélé, Monnat Pongpanich, et al.
Science Translational Medicine|December 23, 2016
Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophyMaria Josè Polanco, Sara Parodi, Diana Piol, et al.
American Journal of Human Genetics|April 24, 2004
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Ying-Zhang Chen, Craig L Bennett, Huy M Huynh, et al.
Nature Genetics|December 29, 2009
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2CGuida Landouré, Anselm A Zdebik, Tara L Martinez, et al.
Frontiers in Genetics|December 3, 2024
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from MaliSalia Bamba, Lala Sidibé, Seybou H Diallo, et al.
The Lancet. Neurology|January 11, 2011
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trialLindsay E Fernández-Rhodes, Angela D Kokkinis, Michelle J White, et al.
Brain : a Journal of Neurology|May 13, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMagdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, et al.
Science Advances|August 21, 2021
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activityWooi F Lim, Mitra Forouhan, Thomas C Roberts, et al.
Frontiers in Neurology|October 10, 2024
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findingsLassana Cissé, Salia Bamba, Seybou H Diallo, et al.
Journal of Huntington'S Disease|March 21, 2022
Clinical and Genetic Aspects of Huntington's Disease in the Malian PopulationAbdoulaye Bocoum, Toumany Coulibaly, Madani Ouologuem, et al.
Pageof 14