97 citations · 132 across the 2 of their papers we have counts for
2 papers
q-bio.GN2020★ 35 cited
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…
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…