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A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Leoni TB, González-Salazar C, Rezende TJR, Hernández ALC, Mattos AHB, Coimbra Neto AR, da Graça FF, Gonçalves JPN, Martinez ARM, Taniguti L, Kitajima JP, Kok F, Rogério F, da Silva AMS, de Oliveira ALR, Zanoteli E, Nucci A, França MC Jr. Leoni TB, et al. Among authors: goncalves jpn. Ann Neurol. 2021 Aug;90(2):239-252. doi: 10.1002/ana.26136. Epub 2021 Jun 14. Ann Neurol. 2021. PMID: 34048612
CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort.
Gonçalves JPN, de Andrade HMT, Cintra VP, Bonadia LC, Leoni TB, de Albuquerque M, Martins MP, de Borba FC, Couteiro RED, de Oliveira DS, Claudino R, Gonçalves MVM, Dourado ME, de Souza LC, Teixeira AL, de Godoy Rousseff Prado L, Tumas V, Oliveira ASB, Nucci A, Lopes-Cendes I, Marques W Jr, França MC Jr. Gonçalves JPN, et al. J Neurol Sci. 2020 Jul 15;414:116842. doi: 10.1016/j.jns.2020.116842. Epub 2020 Apr 19. J Neurol Sci. 2020. PMID: 32339968