71 citations · 167 across the 6 of their papers we have counts for
4 papers · 1 filter
Reply: Early-onset phenotype of bi-allelic GRN mutations
Vincent Huin, Mathieu Barbier, Alexandra Durr +1
We would like to reply to Neuray et al. who report a series of five new patients from four unrelated families with bi-allelic mutations of GRN. Their work nicely completes the few…
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…
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…
The MAPT gene is differentially methylated in the progressive supranuclear palsy brain
Vincent Huin, Vincent Deramecourt, Dominique Caparros-Lefebvre +10
Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease causing parkinsonian symptoms. Altered DNA methylation of the microtubule-associated protein ta…