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Cell Reports|June 28, 2018
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to NeurodegenerationMaxime Boutry, Julien Branchu, Céline Lustremant, et al.Neurology|January 13, 2025
Effect of Triheptanoin on Caudate Atrophy and Motor Scores in Patients With Early-Stage Huntington Disease: A Phase II StudyFanny Mochel, Aurélie Méneret, Isaac M Adanyeguh, et al.The Lancet. Neurology|August 4, 2009
Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline dataSarah J Tabrizi, Douglas R Langbehn, Blair R Leavitt, et al.Acta Neuropathologica|May 27, 2014
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in miceSandro Alves, Florence Cormier-Dequaire, Martina Marinello, et al.Neurology|February 17, 2017
Low cancer prevalence in polyglutamine expansion diseasesGiulia Coarelli, Alhassane Diallo, Morgane Sonia Thion, et al.Annals of Neurology|December 26, 2015
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxiaCharles A Galea, Aamira Huq, Paul J Lockhart, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 3, 2011
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxiasEllis Chan, Perrine Charles, Pascale Ribai, et al.Neurology|August 15, 2014
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasiaAurélie Méneret, Yara Ahmar-Beaugendre, Guillaume Rieunier, et al.Neurology|February 16, 2023
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3Sophie Tezenas du Montcel, Emilien Petit, Titilayo Olubajo, et al.Pageof 33