Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis

Natalia Dominik(National Hospital for Neurology and Neurosurgery), J. Louise Jones(Queen Mary University of London), S Henderson(University of Pavia), Tim Hubbard(King's College London), Pedro Furió‐Tarí(Jackson Laboratory), Cecilia Perini(Istituto di Genetica Molecolare), Igor Stevanovski(Garvan Institute of Medical Research), Riccardo Curró(National Hospital for Neurology and Neurosurgery), Elisa Vegezzi(Fondazione Istituto Neurologico Nazionale Casimiro Mondino), Fulya Akçimen(National Institute on Aging), A. Devereau(Genomics England), Dina Halai(Genomics England), C. R. Boustred(Jackson Laboratory), Louise C. Daugherty(University of Cambridge), Greg Elgar(Genomics England), Daniela Di Bella(Fondazione IRCCS Istituto Neurologico Carlo Besta), Marinella Corbetta(Fondazione IRCCS Istituto Neurologico Carlo Besta), Sanjog R. Chintalaphani(Garvan Institute of Medical Research), Valentina Pirota(University of Pavia), Wilson Marques(Universidade de São Paulo), Robert W. Jackson(University of Birmingham), Marta Bleda(University of Cambridge), Janna M. Hackett, Stefano Facchini(University College London), Pedro José Tomaselli(Universidade de São Paulo), Stefania Magri(Fondazione IRCCS Istituto Neurologico Carlo Besta), Prabhu Arumugam(Jackson Laboratory), Tom Fowler(UK Health Security Agency), Kylie-Ann Montgomery(University College London), Elena Abati(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Helen Brittain(Great Ormond Street Hospital), Angela Hamblin(Genomics England), Hannah Macpherson(University College London), Ilaria Quartesan(National Hospital for Neurology and Neurosurgery), Anna de Burca(Genomics England), Emil K. Gustavsson(University of British Columbia), Arianna Manini(University of Milan), Mark J. Caulfield(Queen Mary University of London), Rebecca E. Foulger(Queen Mary University of London), Elisa Sarto(Fondazione IRCCS Istituto Neurologico Carlo Besta), Emma L. Baple(University of Exeter), John C. Ambrose(Jackson Laboratory), Glenda Paola Grupelli(Istituto di Genetica Molecolare), Gary C.W. Chan(Garvan Institute of Medical Research), J. M. Boissiere, C.E.H. Craig, Emmanuele Crespan(Istituto di Genetica Molecolare), J. Holman, Kristina Ibáñez(Queen Mary University of London)
Brain
July 14, 2023
Cited by 71


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