output
20202025
most citedMotor neuron pathology in CANVAS due to RFC1 expansions

84 citations

7 papers

cs.LG2025

Federated Learning for MRI-based BrainAGE: a multicenter study on post-stroke functional outcome prediction

Vincent Roca, Marc Tommasi, Paul Andrey +8

Brain-predicted age difference (BrainAGE) is a neuroimaging biomarker reflecting brain health. However, training robust BrainAGE models requires large dataset…

q-bio.NC2022★ 84 cited

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…

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.GN2020★ 27 cited

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy

Vincent Huin, Isabelle Strubi-Vuillaume, Kathy Dujardin +10

BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impair…

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★ 8 cited

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals

Sabiha Eddarkaoui, Mégane Homa, Anne Loyens +6

A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar a…