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pro vyhledávání: '"Luiz E. Novis"'
Autor:
Stephanie Efthymiou, Luiz E. Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F. Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Helio A. G. Teive, Henry Houlden
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1910-1916 (2023)
Abstract Bi‐allelic variants in peroxiredoxin 3 (PRDX3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and
Externí odkaz:
https://doaj.org/article/a871963bb6444806854fed86a9acdb13