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Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Züchner S, Synofzik M; PREPARE network. Rebelo AP, et al. Among authors: cintra vp. Brain. 2021 Jun 22;144(5):1467-1481. doi: 10.1093/brain/awab071. Brain. 2021. PMID: 33889951
Assessing non-Mendelian inheritance in inherited axonopathies.
Bis-Brewer DM, Gan-Or Z, Sleiman P; Inherited Neuropathy Consortium; Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, Cheng A, Lloyd TE, Rouleau G, Schüle R, Züchner S. Bis-Brewer DM, et al. Genet Med. 2020 Dec;22(12):2114-2119. doi: 10.1038/s41436-020-0924-0. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741968 Free PMC article.
Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis.
Borghetti VS, Cintra VP, Ramos JO, Marques VD, Onofre PT, Santana VAS, Bezerra LFP, Tomaselli PJ, Santos ACJD, Sobreira CFDR, Marques W Jr. Borghetti VS, et al. Among authors: cintra vp. Arq Neuropsiquiatr. 2022 Jul;80(7):676-680. doi: 10.1055/s-0042-1755224. Epub 2022 Sep 29. Arq Neuropsiquiatr. 2022. PMID: 36254439 Free PMC article.
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. Among authors: cintra vp. 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
The frequency of the C9orf72 expansion in a Brazilian population.
Cintra VP, Bonadia LC, Andrade HMT, de Albuquerque M, Eusébio MF, de Oliveira DS, Claudino R, Gonçalves MVM, Teixeira AL Jr, de Godoy Rousseff Prado L, de Souza LC, Dourado MET Jr, Oliveira ASB, Tumas V, França MC Jr, Marques W Jr. Cintra VP, et al. Neurobiol Aging. 2018 Jun;66:179.e1-179.e4. doi: 10.1016/j.neurobiolaging.2018.01.007. Epub 2018 Jan 31. Neurobiol Aging. 2018. PMID: 29449030
16 results