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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementationDaisy Rymen, Martijn Lindhout, Maria Spanou, 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.JAMA Neurology|August 19, 2014
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxiaBrent L Fogel, Hane Lee, Joshua L Deignan, et al.Orphanet Journal of Rare Diseases|October 17, 2015
47 patients with FLNA associated periventricular nodular heterotopiaMax Lange, Burkhard Kasper, Axel Bohring, 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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2025
Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trialsCynthia J Tifft, Isabela Batsu, Roberto Giugliani, et al.Cerebellum (London, England)|September 1, 2025
Content Validity of the Spinocerebellar Ataxia Composite Score as a Measure of Disease Progression in Patients with Spinocerebellar AtaxiaMichele Potashman, Maggie Heinrich, Katja Rudell, et al.Elife|September 20, 2015
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Louise A Stephen, Hasan Tawamie, Gemma M Davis, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 23, 2021
Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial SensorsVrutangkumar V Shah, Roberto Rodriguez-Labrada, Fay B Horak, et al.Pageof 26