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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.
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