Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies
por: Zeniya, Satoshi, et al.
Publicado: (2022) -
The Contribution of the Cerebellum to Cognition in Spinocerebellar Ataxia Type 6
por: Cooper, Freya E., et al.
Publicado: (2010) -
Spinocerebellar Ataxia Type 31 with Blepharospasm
por: Itaya, Sakiko, et al.
Publicado: (2018) -
Action perception recruits the cerebellum and is impaired in patients with spinocerebellar ataxia
por: Abdelgabar, Abdel R, et al.
Publicado: (2019) -
Spinocerebellar ataxia type 31 (SCA31)
por: Ishikawa, Kinya
Publicado: (2022)