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Nature Genetics|August 12, 2009
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Neurology|July 11, 2022
Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial DesignChristian Rummey, Louise A Corben, Martin Delatycki, et al.
Neurology. Genetics|February 12, 2020
Psychometric properties of the Friedreich Ataxia Rating ScaleChristian Rummey, Louise A Corben, Martin B Delatycki, et al.
The Lancet. Neurology|June 17, 2026
Safety and efficacy of levacetylleucine in ataxia-telangiectasia: a phase 3, randomised, double-blind, placebo-controlled crossover trialKyriakos Martakis, Tatiana Bremova-Ertl, Clare Bolton, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 29, 2022
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe ExtensionDavid R Lynch, Melanie P Chin, Sylvia Boesch, et al.
Neurology. Genetics|August 2, 2017
Prevalence of spinocerebellar ataxia 36 in a US populationJuliana M Valera, Tatyana Diaz, Lauren E Petty, 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.
Annals of Clinical and Translational Neurology|September 11, 2023
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history dataDavid R Lynch, Angie Goldsberry, Christian Rummey, et al.
Annals of Neurology|October 17, 2020
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)David R Lynch, Melanie P Chin, Martin B Delatycki, et al.
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