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Mitochondrion|December 15, 2010
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial functionMary A Selak, Elise Lyver, Elizabeth Micklow, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 30, 2012
A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trialDavid R Lynch, Steven M Willi, Robert B Wilson, et al.
Neurology. Genetics|April 29, 2016
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosisYi Yang, Lei Zhang, David R Lynch, et al.
Journal of the Neurological Sciences|June 24, 2008
Health related quality of life measures in Friedreich AtaxiaElizabeth Epstein, Jennifer M Farmer, Amy Tsou, et al.
Journal of Neurology|December 3, 2022
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxiaDavid R Lynch, Katherine D Mathews, Susan Perlman, et al.
PNAS Nexus|August 26, 2022
Frataxin controls ketone body metabolism through regulation of OXCT1Yi Na Dong, Clementina Mesaros, Peining Xu, et al.
Muscle & Nerve|March 22, 2024
Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxiaNicolette A Cilenti, Jaclyn G Tamaroff, Christopher J Capiola, et al.
Annals of Neurology|December 14, 2011
A gene expression phenotype in lymphocytes from Friedreich ataxia patientsGiovanni Coppola, Ryan Burnett, Susan Perlman, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2010
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial designLisa S Friedman, Jennifer M Farmer, Susan Perlman, et al.
Annals of Clinical and Translational Neurology|August 22, 2018
Monoclonal antibodies from a patient with anti-NMDA receptor encephalitisRashmi Sharma, Fetweh H Al-Saleem, Jessica Panzer, et al.
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