Litcius/Paper detail

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Solveig Montaut, Nadège Diedhiou, P. Fahrer, Cécilia Marelli, Benoît Lhermitte, Laura Robelin, Marie Claire Vincent, Lucas Corti, Guillaume Taïeb, Odile Gebus, Gabrielle Rudolf, Julien Tarabeux, Nicolas Dondaine, Matthieu Canuet, Marilyne Almeras, Mehdi Benkirane, Lise Larrieu, Jean‐Baptiste Chanson, Aleksandra Nadaj‐Pakleza, Andoni Echaniz‐Laguna, Cécile Cauquil, Béatrice Lannes, Jamel Chelly, Mathieu Anheim, Hélène Puccio, Christine Tranchant

2021Journal of Neurology37 citationsDOI

Topics & Concepts

Cerebellar ataxiaAtaxiaCerebellumTrinucleotide repeat expansionMedicineCohortPathologyNeurologyAge of onsetSpinocerebellar ataxiaVestibular systemAlleleInternal medicineGeneticsBiologyAudiologyDiseaseGenePsychiatryGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyHereditary Neurological Disorders