84 citations
Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.
- Université de LilleFR5 papers
- Centre Hospitalier Universitaire de LilleFR4 papers
- Centre National de la Recherche ScientifiqueFR4 papers
- InsermFR4 papers
- Assistance Publique – Hôpitaux de ParisFR3 papers
- Institut du CerveauFR3 papers
- Pitié-Salpêtrière HospitalFR3 papers
- Sorbonne UniversitéFR3 papers
- Centre de Recherche Jean Pierre AubertFR2 papers
- Institut de Psychiatrie et Neurosciences de ParisFR2 papers
- Centre de Recherche en InformatiqueFR1 paper
- Centre de Recherche en Informatique, Signal et Automatique de LilleFR1 paper
Showing q-bio.NCShow all
2 papers · 1 filter
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.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…