- Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and TwinkyKaisu Nikali
Department of Molecular Medicine, National Public Health Institute, University of Helsinki, Finland
Hum Mol Genet 14:2981-90. 2005....
- cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxiaKaisu Nikali
Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Haartmaninkatu 8, FIN 00290 Helsinki, Finland
Gene 299:111-5. 2002..However, this study facilitates future investigations on both the role of C10orf6 gene product in human cells as well as its possible involvement in the pathogenesis of other hereditary diseases mapped to chromosome 10q24...