Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn

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 hypokinetic features, accompanied by cerebellar atrophy and o...

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Detalles Bibliográficos
Autores principales: Efthymiou, Stephanie, Novis, Luiz E., Koutsis, Georgios, Koniari, Chrysoula, Maroofian, Reza, Turchetti, Valentina, Velonakis, Georgios, Vasconcellos, Luiz F., Raskin, Salmo, Srinivasan, Varunvenkat M., Pagnamenta, Alistair T., Arun, Yaramanchanahalli B., Kinhal, Uddhava V., Gowda, Vykuntaraju K., Teive, Helio A. G., Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578881/
https://www.ncbi.nlm.nih.gov/pubmed/37553803
http://dx.doi.org/10.1002/acn3.51874

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