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Plos One|December 3, 2010
CpG demethylation enhances alpha-synuclein expression and affects the pathogenesis of Parkinson's diseaseLumine Matsumoto, Hiroshi Takuma, Akira Tamaoka, et al.
Neurology. Genetics|February 25, 2025
Redefining the Pathogenic CAG Repeat Units Threshold in <i>CACNA1A</i> for Spinocerebellar Ataxia Type 6Yuya Hatano, Tomohiko Ishihara, Sachiko Hirokawa, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 10, 2003
Severe generalized dystonia as a presentation of a patient with aprataxin gene mutationYoshiki Sekijima, Takao Hashimoto, Osam Onodera, et al.
Biochemical and Biophysical Research Communications|November 24, 2004
The FHA domain of aprataxin interacts with the C-terminal region of XRCC1Hidetoshi Date, Shuichi Igarashi, Yasuteru Sano, et al.
The Journal of Biological Chemistry|February 17, 2009
Intranuclear degradation of polyglutamine aggregates by the ubiquitin-proteasome systemAtsushi Iwata, Yu Nagashima, Lumine Matsumoto, et al.
Cerebellum (London, England)|October 13, 2022
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot DeformityYuka Hama, Hidetoshi Date, Akiko Fujimoto, et al.
BMC Bioinformatics|April 28, 2009
SNP HiTLink: a high-throughput linkage analysis system employing dense SNP dataYoko Fukuda, Yasuo Nakahara, Hidetoshi Date, et al.
Nucleic Acids Research|May 24, 2007
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate endsTetsuya Takahashi, Masayoshi Tada, Shuichi Igarashi, et al.
Annals of Neurology|February 3, 2004
Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair proteinYasuteru Sano, Hidetoshi Date, Shuichi Igarashi, et al.
Journal of Human Genetics|March 23, 2022
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and curesYuji Takahashi, Hidetoshi Date, Hideki Oi, et al.
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