97 citations · 181 across the 4 of their papers we have counts for
4 papers
Motor neuron pathology in CANVAS due to RFC1 expansions
Vincent Huin, Giulia Coarelli, Clément Guemy +22
CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical…
Image Collation: Matching illustrations in manuscripts
Ryad Kaoua, Xi Shen, Alexandra Durr +3
Illustrations are an essential transmission instrument. For an historian, the first step in studying their evolution in a corpus of similar manuscripts is to identify which ones co…
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…
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…