71 citations · 98 across the 2 of their papers we have counts for
2 papers
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…
q-bio.GN2020★ 27 cited
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy
Vincent Huin, Isabelle Strubi-Vuillaume, Kathy Dujardin +10
BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impair…