Truncating Variants in RFC1in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

التفاصيل البيبلوغرافية
العنوان: Truncating Variants in RFC1in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
المؤلفون: Ronco, Riccardo, Perini, Cecilia, Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Gennari, Alice, Simone, Roberto, Stuart, Skye, Nagy, Sara, Vegezzi, Elisa, Quartesan, Ilaria, El-Saddig, Amar, Lavin, Timothy, Tucci, Arianna, Szymura, Agnieszka, Novis De Farias, Luiz Eduardo, Gary, Alexander, Delfeld, Megan, Kandikatla, Priscilla, Niu, Nifang, Tawde, Sanjukta, Shaw, Joseph, Polke, James, Reilly, Mary M., Wood, Nick W., Crespan, Emmanuele, Gomez, Christopher, Chen, Jin Yun Helen, Schmahmann, Jeremy Dan, Gosal, David, Houlden, Henry, Das, Soma, Cortese, Andrea
المصدر: Neurology (Ovid); January 2023, Vol. 100 Issue: 5 pe543-e554, 12p
قاعدة البيانات: Supplemental Index
الوصف
تدمد:00283878
1526632X
DOI:10.1212/WNL.0000000000201486