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Movement Disorders : Official Journal of the Movement Disorder Society|February 15, 2024
Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar AtaxiaVrutangkumar V Shah, Daniel Muzyka, Adam Jagodinsky, et al.Movement Disorders Clinical Practice|December 18, 2025
Digital Gait Measures Discriminate People with Friedreich's Ataxia from Healthy ControlsHannah L Casey, Vrutangkumar V Shah, Daniel Muzyka, et al.Movement Disorders : Official Journal of the Movement Disorder Society|March 12, 2024
Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's AtaxiaHannah L Casey, Vrutangkumar V Shah, Daniel Muzyka, et al.Human Molecular Genetics|September 25, 2012
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insultKatherine E Hekman, Guo-Yun Yu, Christopher D Brown, et al.Neurology. Genetics|February 12, 2020
Psychometric properties of the Friedreich Ataxia Rating ScaleChristian Rummey, Louise A Corben, Martin B Delatycki, et al.Human Molecular Genetics|December 23, 2020
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalusMaria J Nabais Sá, Alexandra N Olson, Grace Yoon, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypesMiao Sun, Amy Knight Johnson, Viswateja Nelakuditi, et al.The Lancet. Digital Health|October 17, 2025
Development and validation of a composite digital balance score for spinocerebellar ataxia: a prospective studyJames McNames, Vrutangkumar V Shah, Hannah L Casey, et al.Journal of Neurology|June 19, 2013
Analysis of the visual system in Friedreich ataxiaLauren A Seyer, Kristin Galetta, James Wilson, 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.Pageof 17