97 citations · 204 across the 5 of their papers we have counts for
5 papers
Identifying latent disease factors differently expressed in patient subgroups using group factor analysis
Fabio S. Ferreira, John Ashburner, Arabella Bouzigues +33
In this study, we propose a novel approach to uncover subgroup-specific and subgroup-common latent factors addressing the challenges posed by the heterogeneity of neurological and…
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…
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…
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…