Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

BACKGROUND AND OBJECTIVE: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult-onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular impairment. In most cases, the diseas...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9931080/
https://www.ncbi.nlm.nih.gov/pubmed/36289003
http://dx.doi.org/10.1212/WNL.0000000000201486

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