Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Gilbert J Thomas-Black"'
Autor:
Tanya Stojkovic, Thierry Maisonobe, Henry Houlden, Stefano Tozza, Riccardo Currò, Wai Yan Yau, Zoe Dyer, Stephan Züchner, Nigel G. Laing, Lea Leonardis, Paola Giunti, Phillipa J. Lamont, Gilbert J Thomas-Black, Roisin Sullivan, Wilson Marques, Stephanie Efthymiou, Salvatore Rossi, Patrick F. Chinnery, Andrea Cortese, Sarah J. Beecroft, Andrew Chancellor, Diego Kaski, Menelaos Pipis, Richard Roxburgh, Pedro J. Tomaselli, Gianina Ravenscroft, Matilde Laura, Alexander M. Rossor, Alejandro Horga, Cristina Tassorelli, James M. Polke, Adolfo M. Bronstein, Yann Péréon, Giulia Mallucci, Mary M. Reilly, Silvia Colnaghi, Rita Horvath, Stuart Mossman, Zane Jaunmuktane, Nicholas W. Wood, Grazia Devigili, Cécile Cauquil
Publikováno v:
Brain
See Paisán-Ruiz and Jen (doi:10.1093/brain/awaa015) for a scientific commentary on this article. Cortese et al. describe the full disease phenotype, including progression of ataxia, in 100 confirmed carriers of RFC1 repeat expansions. RFC1 repeat ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b621364d74ac06a1f4907a87bf4d5c
https://pubmed.ncbi.nlm.nih.gov/32949124
https://pubmed.ncbi.nlm.nih.gov/32949124
Publikováno v:
Brain : a journal of neurology. 142(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d32ea1914d13bc8d45e403744c18bd
https://pubmed.ncbi.nlm.nih.gov/31081508
https://pubmed.ncbi.nlm.nih.gov/31081508