97 citations · 119 across the 2 of their papers we have counts for
2 papers
q-bio.NC2022★ 22 cited
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations
Fábio Carneiro, Dario Saracino, Vincent Huin +17
Introduction: A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic ca…
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…