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Human Mutation|March 17, 2010
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, et al.Annals of Clinical and Translational Neurology|March 27, 2019
Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich AtaxiaDavid R Lynch, Lauren Hauser, Ashley McCormick, et al.Cerebellum (London, England)|August 13, 2025
Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor BiomarkersElena Pretegiani, Pilar Garces, Chrystalina A Antoniades, et al.Movement Disorders : Official Journal of the Movement Disorder Society|December 3, 2014
Coenzyme Q10 and spinocerebellar ataxiasRaymond Y Lo, Karla P Figueroa, Stefan M Pulst, et al.Journal of Neurology|June 19, 2013
Analysis of the visual system in Friedreich ataxiaLauren A Seyer, Kristin Galetta, James Wilson, et al.Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|September 27, 2014
Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter studyM Moscovich, Michael S Okun, Chris Favilla, et al.Annals of Clinical and Translational Neurology|May 5, 2021
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohortChristian Rummey, John M Flynn, Louise A Corben, et al.Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.Human Molecular Genetics|April 25, 2014
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2Brent L Fogel, Ellen Cho, Amanda Wahnich, et al.Cerebellum (London, England)|March 5, 2019
Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for TremorRuo-Yah Lai, Darya Tomishon, Karla P Figueroa, et al.Pageof 26