@article{oai:niigata-u.repo.nii.ac.jp:00018684,
 author = {小出, 玲爾 and 池内, 健 and 小野寺, 理 and 田中, 一 and 五十嵐, 修一 and 遠藤, 耕太郎 and 辻, 省次 and 高橋, 均 and 生田, 房弘 and 近藤, 類 and 林, 恒美 and 斎藤, 正明 and 石川, 厚 and 友田, 明美 and 三池, 輝久 and 内藤, 明彦},
 issue = {4},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Apr},
 note = {Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By directly searching for cDNAs with CAG repeats as candidates, we found unstable expansion of CAG repeat of a gene (CTG-B37) on chromosome 12 in all the 22 DRPLA patients. There is a good correlation between the sizes of CAG repeat expansion and the ages of onset. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. Thus wide variety of its clinical manifestations can now be explained by the variable unstable expansion of the CAG repeat.},
 pages = {185--190},
 title = {6)遺伝性歯状核赤核淡蒼球ルイ体萎縮症(DRPLA) : 分子遺伝学の立場から(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)},
 volume = {109},
 year = {1995}
}