Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Andreas TraschützAndrea CorteseSelina ReichNatalia DominikJennifer FaberHeike JacobiAnnette M HartmannDan RujescuSolveig MontautAndoni Echaniz-LagunaSevda ErerValerie Cornelia SchützAlexander A TarnutzerMarc SturmTobias B HaackNadège Vaucamps-DiedhiouHelene PuccioLudger SchölsThomas KlockgetherBart P van de WarrenburgMartin PaucarDagmar TimmannRalf-Dieter HilgersJose GazullaMichael StruppGerman MorisAlessandro FillaHenry HouldenMathieu AnheimJon InfanteA Nazli BasakMatthis Synofziknull nullPublished in: Neurology (2021)
This study provides Class II evidence that RFC1 repeat expansions are associated with CANVAS and ACC.
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