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The Lancet. Neurology|December 7, 2010
Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysisSarah J Tabrizi, Rachael I Scahill, Alexandra Durr, et al.JCI Insight|April 20, 2017
Topological length of white matter connections predicts their rate of atrophy in premanifest Huntington's diseasePeter McColgan, Kiran K Seunarine, Sarah Gregory, et al.JAMA Neurology|August 5, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation studyMathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, et al.JAMA Neurology|May 24, 2013
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32Carmen Serrano-Munuera, Marc Corral-Juan, Giovanni Stevanin, et al.Neurology|April 5, 2015
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxiaMarie Coutelier, Lydie Burglen, Emeline Mundwiller, et al.Ebiomedicine|October 15, 2019
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomesMarc Ciosi, Alastair Maxwell, Sarah A Cumming, et al.Human Genetics|November 13, 2023
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageSandra Martins, Ashraf Yahia, Inês P D Costa, et al.Journal of Neurology, Neurosurgery, and Psychiatry|August 14, 2014
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificityMaya Tchikviladzé, Mylène Gilleron, Thierry Maisonobe, et al.Plos One|January 24, 2014
Effectiveness of anti-psychotics and related drugs in the Huntington French-speaking group cohortGaëlle Désaméricq, Guillaume Dolbeau, Christophe Verny, et al.Human Genetics|October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesisGuillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.Pageof 33