Normal and Pathogenic Variation of RFC1 Repeat Expansions: Implications for Clinical DiagnosisNatalia Dominik,Stefania Magri,Riccardo Curro,Elena Abati,Stefano Facchini,Marinella Corbetta,Hannah Macpherson,Daniela Di Bella,Elisa Sarto,Igor Stevanovski,Sanjog R. Chintalaphani,Fulya Akcimen,Arianna Manini,Elisa Vegezzi,Ilaria Quartesan,Kylie-Ann Montgomery,Valentina Pirota,Emmanuele Crespan,Cecilia Perini, Glenda Paola Grupelli,Pedro J. Tomaselli,Wilson Marques,Joseph Shaw,James Polke,Ettore Salsano,Silvia Fenu,Davide Pareyson,Chiara Pisciotta,George K. Tofaris,Andrea H. Nemeth,John Ealing,Aleksandar Radunovic,Seamus Kearney,Kishore R. Kumar,Steve Vucic,Marina Kennerson,Mary M. Reilly,Henry Houlden,Ira Deveson,Arianna Tucci,Franco Taroni,Andrea CorteseBRAIN(2023)引用 32|浏览69关键词RFC1,CANVAS,ataxia,neuropathy,repeat expansions,long-read sequencingAI 理解论文溯源树样例生成溯源树,研究论文发展脉络Chat Paper正在生成论文摘要