97 citations · 97 across the 2 of their papers we have counts for
2 papers
q-bio.GN2021
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…
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…