J
Junko Kanda Kikuchi
Researcher at University of Tokyo
Publications - 2
Citations - 227
Junko Kanda Kikuchi is an academic researcher from University of Tokyo. The author has contributed to research in topics: Trinucleotide repeat expansion & Hereditary sensory and autonomic neuropathy. The author has an hindex of 1, co-authored 2 publications receiving 113 citations.
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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Hiroyuki Ishiura,Shota Shibata,Jun Yoshimura,Yuta Suzuki,Wei Qu,Koichiro Doi,Koichiro Doi,M. Asem Almansour,Junko Kanda Kikuchi,Makiko Taira,Makiko Taira,Jun Mitsui,Yuji Takahashi,Yaeko Ichikawa,Yaeko Ichikawa,Tatsuo Mano,Atsushi Iwata,Yasuo Harigaya,Miho Matsukawa,Takashi Matsukawa,Masaki Tanaka,Masaki Tanaka,Yuichiro Shirota,Ryo Ohtomo,Hisatomo Kowa,Hisatomo Kowa,Hidetoshi Date,Aki Mitsue,Hiroyuki Hatsuta,Satoru Morimoto,Shigeo Murayama,Yasushi Shiio,Yuko Saito,Akihiko Mitsutake,Mizuho Kawai,Takuya Sasaki,Yusuke Sugiyama,Masashi Hamada,Gaku Ohtomo,Yasuo Terao,Yasuo Terao,Yoshihiko Nakazato,Akitoshi Takeda,Yoshio Sakiyama,Yumi Umeda-Kameyama,Jun Shinmi,Katsuhisa Ogata,Yutaka Kohno,Shen-Yang Lim,Ai Huey Tan,Jun Shimizu,Jun Goto,Jun Goto,Ichizo Nishino,Tatsushi Toda,Shinichi Morishita,Shoji Tsuji,Shoji Tsuji +57 more
TL;DR: Whole-genome sequencing identifies noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and Oculopharyngealmyopathy with leukoencephalopathy, three disorders with overlapping clinical features and neuroimaging findings.
Journal ArticleDOI
Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.
Junko Kanda Kikuchi,Yu Nagashima,Tatsuo Mano,Hiroyuki Ishiura,Toshihiro Hayashi,Jun Shimizu,Takashi Matsukawa,Yaeko Ichikawa,Yuji Takahashi,Shotaro Karino,Takashi Kanbayashi,Jun Ichi Kira,Jun Goto,Shoji Tsuji,Shoji Tsuji +14 more
TL;DR: In this article, the authors report on the cases of a kindred carrying the DNMT1 variant NM_001130823.2:c.1531 T > C (p.Y511H) presenting with the ADCA-DN phenotype.