H
Hideshi Kawakami
Researcher at Hiroshima University
Publications - 192
Citations - 10369
Hideshi Kawakami is an academic researcher from Hiroshima University. The author has contributed to research in topics: Spinocerebellar ataxia & Optineurin. The author has an hindex of 44, co-authored 184 publications receiving 9493 citations. Previous affiliations of Hideshi Kawakami include National Institutes of Natural Sciences, Japan & University of Washington.
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Journal ArticleDOI
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Yoshiya Kawaguchi,Toshihiro Okamoto,Masafumi Taniwaki,Megumi Aizawa,Miho Inoue,Sadao Katayama,Hideshi Kawakami,Shigenobu Nakamura,Masaki Nishimura,Ichiro Akiguchi,Jun Kimura,Shuh Narumiya,Akira Kakizuka +12 more
TL;DR: Southern blot analyses and genomic cloning demonstrates the existence of related genes, raising the possibility that similar abnormalities in related genes may give rise to diseases similar to Machado-Joseph disease.
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Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
Wataru Satake,Yuko Nakabayashi,Yuko Nakabayashi,Ikuko Mizuta,Ikuko Mizuta,Yushi Hirota,Yushi Hirota,Chiyomi Ito,Chiyomi Ito,Michiaki Kubo,Takahisa Kawaguchi,Tatsuhiko Tsunoda,Masahiko Watanabe,Atsushi Takeda,Hiroyuki Tomiyama,Kenji Nakashima,Kazuko Hasegawa,Fumiya Obata,Takeo Yoshikawa,Hideshi Kawakami,Saburo Sakoda,Mitsutoshi Yamamoto,Nobutaka Hattori,Miho Murata,Yusuke Nakamura,Tatsushi Toda,Tatsushi Toda +26 more
TL;DR: The results identify two new PD susceptibility loci, show involvement of autosomal dominant parkinsonism loci in typical PD and suggest that population differences contribute to genetic heterogeneity in PD.
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Mutations of optineurin in amyotrophic lateral sclerosis
Hirofumi Maruyama,Hiroyuki Morino,Hidefumi Ito,Hidefumi Ito,Yuishin Izumi,Hidemasa Kato,Yasuhito Watanabe,Yoshimi Kinoshita,Masaki Kamada,Masaki Kamada,Hiroyuki Nodera,Hidenori Suzuki,Osamu Komure,Shinya Matsuura,Keitaro Kobatake,Nobutoshi Morimoto,Koji Abe,Naoki Suzuki,Masashi Aoki,Akihiro Kawata,Takeshi Hirai,Takeo Kato,Kazumasa Ogasawara,Asao Hirano,Toru Takumi,Hirofumi Kusaka,Koichi Hagiwara,Ryuji Kaji,Hideshi Kawakami +28 more
TL;DR: It is shown that there are mutations in the gene encoding optineurin (OPTN), earlier reported to be a causative gene of primary open-angle glaucoma (POAG), in patients with ALS and these findings strongly suggest that OPTN is involved in the pathogenesis of ALS.
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Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.
Demetrius M. Maraganore,Mariza de Andrade,Alexis Elbaz,Matthew J. Farrer,John P. A. Ioannidis,Rejko Krüger,Walter A. Rocca,Nicole K. Schneider,Timothy G. Lesnick,Sarah Lincoln,Mary M. Hulihan,Jan O. Aasly,Tetsuo Ashizawa,Marie-Christine Chartier-Harlin,Harvey Checkoway,Carlo Ferrarese,Georgios M. Hadjigeorgiou,Nobutaka Hattori,Hideshi Kawakami,Jean-Charles Lambert,Timothy Lynch,George D. Mellick,Spiridon Papapetropoulos,Abbas Parsian,Aldo Quattrone,Olaf Riess,Eng-King Tan,Christine Van Broeckhoven +27 more
TL;DR: This large-scale collaborative analysis demonstrates that SNCA REP1 allele-length variability is associated with an increased risk of Parkinson disease.
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Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells
TL;DR: Human-ESC-derived cerebellar progenitors exhibit substantial self-organizing potential for generating a polarized structure reminiscent of the early human cerebellum at the first trimester.