Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Yau Way Yan, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke, Muhammad Ilyas, Eloise Tribollet, Pedro J. Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stephanie Efthymiou, Diego Kaski, Nick W. WoodNadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo Bronstein, Pietro Fratta, Wilson J. Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

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Pharmacology, Toxicology and Pharmaceutical Science

Neuroscience