Truncating Variants in RFC1in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
- Resource Type
- Article
- Authors
- 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
- Source
- Neurology (Ovid); January 2023, Vol. 100 Issue: 5 pe543-e554, 12p
- Subject
- Language
- ISSN
- 00283878; 1526632X