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The Lancet Regional Health. Europe|January 5, 2026
Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA studyMarcus Grobe-Einsler, Stéphanie Borel, Maresa Buchholz, et al.
Medrxiv : the Preprint Server for Health Sciences|November 6, 2024
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalitiesCarolyn Le, Emanuela Argilli, Elizabeth George, et al.
Annals of Neurology|December 13, 2022
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3Jayashree Chandrasekaran, Emilien Petit, Young Woo Park, et al.
The Lancet. Neurology|May 28, 2013
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline dataHeike Jacobi, Kathrin Reetz, Sophie Tezenas du Montcel, et al.
The Lancet. Neurology|August 22, 2020
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort studyHeike Jacobi, Sophie Tezenas du Montcel, Sandro Romanzetti, et al.
Brain : a Journal of Neurology|April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre studyMatthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Brain : a Journal of Neurology|October 16, 2012
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyStephan Klebe, Christel Depienne, Sylvie Gerber, et al.
Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
BMC Medicine|March 25, 2026
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disordersMehrdad A Estiar, Eric Yu, Parizad Varghaei, et al.
The Lancet. Neurology|June 10, 2008
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control studyDaniel G Healy, Mario Falchi, Sean S O'Sullivan, et al.
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