Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)(n)

Spinocerebellar ataxia type 31 (SCA31), an autosomal-dominant neurodegenerative disorder characterized by progressive cerebellar ataxia with Purkinje cell degeneration, is caused by a heterozygous 2.5–3.8 kilobase penta-nucleotide repeat of (TTCCA)(n) in intron 11 of the thymidine kinase 2 (TK2) gen...

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Detalles Bibliográficos
Autores principales: Aoki, Hanako, Higashi, Miwa, Okita, Michi, Ando, Noboru, Murayama, Shigeo, Ishikawa, Kinya, Yokota, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883315/
https://www.ncbi.nlm.nih.gov/pubmed/35084690
http://dx.doi.org/10.1007/s12311-021-01364-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883315/
https://www.ncbi.nlm.nih.gov/pubmed/35084690
http://dx.doi.org/10.1007/s12311-021-01364-2

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