84 citations · 155 across the 2 of their papers we have counts for
2 papers
q-bio.NC2022★ 84 cited
Motor neuron pathology in CANVAS due to RFC1 expansions
Vincent Huin, Giulia Coarelli, Clément Guemy +22
CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical…
q-bio.GN2020★ 71 cited
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
Jérôme Delplanque, David Devos, Vincent Huin +18
Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we r…