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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Efthymiou S, Novis LE, Koutsis G, Koniari C, Maroofian R, Turchetti V, Velonakis G, Vasconcellos LF, Raskin S, Srinivasan VM, Pagnamenta AT, Arun YB, Kinhal UV, Gowda VK, Teive HAG, Houlden H. Efthymiou S, et al. Among authors: vasconcellos lf. Ann Clin Transl Neurol. 2023 Oct;10(10):1910-1916. doi: 10.1002/acn3.51874. Epub 2023 Aug 8. Ann Clin Transl Neurol. 2023. PMID: 37553803 Free PMC article.
A 77-year-old man with parkinsonism and rapidly progressive dementia.
Oliveira HSD, de Oliveira PS, Calil V, Macêdo PJOM, Canedo N, Vasconcellos LFR. Oliveira HSD, et al. Among authors: vasconcellos lfr. Brain Pathol. 2018 Sep;28(5):777-778. doi: 10.1111/bpa.12653. Brain Pathol. 2018. PMID: 30375117 Free PMC article. No abstract available.
40 results