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Annals of Clinical and Translational Neurology|January 19, 2019
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxiaDavid R Lynch, Jennifer Farmer, Lauren Hauser, et al.Journal of Child Neurology|July 4, 2012
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participantsSean R Regner, Nicholas S Wilcox, Lisa S Friedman, et al.Annals of Clinical and Translational Neurology|September 21, 2016
Progression of Friedreich ataxia: quantitative characterization over 5 yearsMaya Patel, Charles J Isaacs, Lauren Seyer, et al.American Journal of Human Genetics|March 6, 2008
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyClotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, et al.BMJ Neurology Open|April 1, 2026
Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxiaChristian Rummey, Ian A Blair, Clementina Mesaros, et al.Frontiers in Molecular Biosciences|September 22, 2022
A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxiaLayne N Rodden, Christian Rummey, Yi Na Dong, et al.Annals of Clinical and Translational Neurology|September 5, 2015
Frataxin levels in peripheral tissue in Friedreich ataxiaMichael Lazaropoulos, Yina Dong, Elisia Clark, et al.JCI Insight|November 5, 2016
Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disordersCatherine DeBrosse, Ravi Prakash Reddy Nanga, Neil Wilson, et al.Journal of Child Neurology|February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorderJelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.Annals of Neurology|April 24, 2012
FXN methylation predicts expression and clinical outcome in Friedreich ataxiaMarguerite V Evans-Galea, Nissa Carrodus, Simone M Rowley, et al.Pageof 24