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| 1 | Camila Xu | + 462 word(s) | 462 | 2020-12-15 07:27:57 |
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Xu, C. Infantile-Onset Spinocerebellar Ataxia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4220 (accessed on 28 September 2026).
Xu C. Infantile-Onset Spinocerebellar Ataxia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4220. Accessed September 28, 2026.
Xu, Camila. "Infantile-Onset Spinocerebellar Ataxia" Encyclopedia, https://encyclopedia.pub/entry/4220 (accessed September 28, 2026).
Xu, C. (2020, December 23). Infantile-Onset Spinocerebellar Ataxia. In Encyclopedia. https://encyclopedia.pub/entry/4220
Xu, Camila. "Infantile-Onset Spinocerebellar Ataxia." Encyclopedia. Web. 23 December, 2020.
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Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system.
genetic conditions
References
- Finsterer J. Ataxias with autosomal, X-chromosomal or maternal inheritance.Can J Neurol Sci. 2009 Jul;36(4):409-28. Review.
- Finsterer J. Mitochondrial ataxias. Can J Neurol Sci. 2009 Sep;36(5):543-53.Review.
- Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, LampinenM, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A. Infantile-onsetspinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associatedwith neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec1;17(23):3822-35. doi: 10.1093/hmg/ddn280.
- Lönnqvist T, Paetau A, Valanne L, Pihko H. Recessive twinkle mutations causesevere epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. doi:10.1093/brain/awp045.
- Lönnqvist T. Infantile-Onset Spinocerebellar Ataxia. 2009 Jan 27 [updated 2018Apr 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK3795/
- Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessivemutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005 Oct15;14(20):2981-90.
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