| 1 | C10orf2, IOSCA
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| Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
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| Park MH, Woo HM, Hong YB, Park JH, Yoon BR, Park JM, Yoo JH, Koo H, Chae JH, Chung KW, Choi BO, Koo SK.
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| Neurogenetics 15(3):171-82. doi: 10.1007/s10048-014-0405-1. Epub 2014 May 10.
2014
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| 2 | C10ORF2, IOSCA, PEO3
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| Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
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| Longley MJ, Humble MM, Sharief FS, Copeland WC.
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| J Biol Chem 285(39):29690-702. Epub 2010 Jul 20.
2010
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| 3 | AMS1, C10orf2, IOSCA, POLG
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| Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
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| Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A.
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| Hum Mol Genet 17(23):3822-35. Epub 2008 Sep 5. 2008
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| 4 | C10orf2, IOSCA
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| Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
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| Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L.
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| Hum Mol Genet 14(20):2981-90. Epub 2005 Aug 31. 2005
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| 5 | D10S185, D10S192, IOSCA, UFS
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| A refined physical and EST map spanning 7.4 Mb of 10q24, a region involved in neurological disorders.
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| Nobile C, et al.
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| Mamm Genome 9 : 835-837. 1998
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| 6 | IOSCA
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| Toward cloning of a novel ataxia gene : refined assignment and physical map of the IOSCA locus (SCA8) on 10q24.
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| Nikali K, et al.
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| Genomics 39 : 185-191. 1997
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| 7 | IOSCA
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| Tracing an ancestral mutation : genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus.
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| Varilo T, et al.
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| Genome Res 6 : 870-875. 1996
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| 8 | IOSCA
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| Random search for shared chromosomal regions in four affected individuals : the assignment of a new hereditary ataxia locus.
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| Nikali K, et al.
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| Am J Hum Genet 56 : 1088-1095. 1995
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| 9 | IOSCA
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| Infantile onset spinocerebellar ataxia with sensory neuropathy : a new inherited disease.
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| Koskinen T, et al.
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| J Neurol Sci 121 : 50-56. 1994
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