Two RFC1 splicing variants in CANVAS

Journal Article Two RFC1 splicing variants in CANVAS Get access Sacha Weber, Sacha Weber Medical Genetics Department, Caen University Hospital, Caen F-14033, FranceNeurology Department, Caen University Hospital, Caen F-14033, France https://orcid.org/0000-0001-9363-5141 Search for other works by this author on: Oxford Academic PubMed Google Scholar Giulia Coarelli, Giulia Coarelli Basic to translational neurogenetics, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Paris F-75013, France https://orcid.org/0000-0002-7824-8343 Search for other works by this author on: Oxford Academic PubMed Google Scholar Anna Heinzmann, Anna Heinzmann Basic to translational neurogenetics, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Paris F-75013, France https://orcid.org/0000-0001-8007-2597 Search for other works by this author on: Oxford Academic PubMed Google Scholar Marie-Lorraine Monin, Marie-Lorraine Monin Department of Medical Genetics, Reference Center for Rare ‘Neurogenetic’ Diseases, Pellegrin Hospital, Bordeaux University Hospital, Bordeaux F-33076, France https://orcid.org/0000-0002-0116-036X Search for other works by this author on: Oxford Academic PubMed Google Scholar Nicolas Richard, Nicolas Richard Department of Genetics, Normandy University, UNICAEN, Caen University Hospital, EA 7450 BioTARGen, Caen F-14000, France https://orcid.org/0000-0003-0702-7399 Search for other works by this author on: Oxford Academic PubMed Google Scholar Marion Gerard, Marion Gerard Medical Genetics Department, Caen University Hospital, Caen F-14033, France https://orcid.org/0000-0003-2319-0305 Search for other works by this author on: Oxford Academic PubMed Google Scholar Alexandra Durr, Alexandra Durr Basic to translational neurogenetics, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Paris F-75013, France https://orcid.org/0000-0002-8921-7104 Search for other works by this author on: Oxford Academic PubMed Google Scholar Vincent Huin Vincent Huin Alzheimer and Tauopathies, Univ. Lille, Inserm, CHU Lille, U1172—LilNCog (JPARC)—Lille Neuroscience & Cognition, Lille F-59000, France Correspondence to: Dr Vincent Huin Lille Neuroscience & Cognition, Lille F-59000, France E-mail: vincent.huin@inserm.fr https://orcid.org/0000-0001-8201-5406 Search for other works by this author on: Oxford Academic PubMed Google Scholar Brain, Volume 146, Issue 3, March 2023, Pages e14–e16, https://doi.org/10.1093/brain/awac466 Published: 07 December 2022 Article history Received: 09 November 2022 Accepted: 22 November 2022 Published: 07 December 2022 Corrected and typeset: 21 January 2023