Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS)...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Cortese, Andrea, Tozza, Stefano, Yau, Wai Yan, Rossi, Salvatore, Beecroft, Sarah J, Jaunmuktane, Zane, Dyer, Zoe, Ravenscroft, Gianina, Lamont, Phillipa J, Mossman, Stuart, Chancellor, Andrew, Maisonobe, Thierry, Pereon, Yann, Cauquil, Cecile, Colnaghi, Silvia, Mallucci, Giulia, Curro, Riccardo, Tomaselli, Pedro J, Thomas-Black, Gilbert, Sullivan, Roisin, Efthymiou, Stephanie, Rossor, Alexander M, Laurá, Matilde, Pipis, Menelaos, Horga, Alejandro, Polke, James, Kaski, Diego, Horvath, Rita, Chinnery, Patrick F, Marques, Wilson, Tassorelli, Cristina, Devigili, Grazia, Leonardis, Lea, Wood, Nick W, Bronstein, Adolfo, Giunti, Paola, Züchner, Stephan, Stojkovic, Tanya, Laing, Nigel, Roxburgh, Richard H, Houlden, Henry, Reilly, Mary M
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7009469/
https://ncbi.nlm.nih.gov/pubmed/32040566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz418
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