Article
The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1.
Neurobiology of aging - 1 Jan 2021
Hayashida Arisa, Li Yuanzhe, Yoshino Hiroyo, Daida Kensuke, Ikeda Aya, Ogaki Kotaro, Fuse Atsuhito, Mori Akio, Takanashi Masashi, Nakahara Toshiki, Yoritaka Asako, Tomizawa Yuji, Furukawa Yoshiaki, Kanai Kazuaki, Nakayama Yoshiaki, Ito Hidefumi, Ogino Mieko, Hattori Yuko, Hattori Tatsuya, Ichinose Yuta, Takiyama Yoshihisa, Saito Tsukasa, Kimura Takashi, Aizawa Hitoshi, Shoji Hiroshi, Mizuno Yuri, Matsushita Takuya, Sato Mitsuto, Sekijima Yoshiki, Morita Masayo, Iwasaki Akio, Kusaka Hirofumi, Tada Mikiko, Tanaka Fumiaki, Sakiyama Yusuke, Fujimoto Takeshi, Nagara Yuko, Kashihara Kenichi, Todo Hiroyuki, Nakao Kouichi, Tsuruta Kazuhito, Yoshikawa Masaaki, Hara Hideo, Yokote Hiroaki, Murase Nagako, Nakamagoe Kiyotaka, Tamaoka Akira, Takamiya Motonori, Morimoto Nobutoshi, Nokura Kazuya, Kako Tetsuharu, Funayama Manabu, Nishioka Kenya, Hattori Nobutaka
Abstract excerpt
To investigate the prevalence and genotype-phenotype correlations of phosphatase and tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD) patients, we analyzed 1700 patients (842 familial PD and 858 sporadic PD patients from Japanese origin). We screened the entire exon and exon-intron boundaries of PINK1 using Sanger sequencing and target sequencing by Ion torrent system. We...
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