97 citations · 168 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.BM2020★ 97 cited
Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms
Vincent Huin, Mathieu Barbier, Armand Bottani +18
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar atax…