M
Michito Namekawa
Researcher at Jichi Medical University
Publications - 35
Citations - 789
Michito Namekawa is an academic researcher from Jichi Medical University. The author has contributed to research in topics: Cerebellar ataxia & Ataxia. The author has an hindex of 14, co-authored 35 publications receiving 732 citations.
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Journal ArticleDOI
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.
Michito Namekawa,Yoshihisa Takiyama,Yoko Aoki,Norio Takayashiki,Kumi Sakoe,Haruo Shimazaki,Tomohiro Taguchi,Yasufumi Tanaka,Masatoyo Nishizawa,Ken Saito,Yoichi Matsubara,Imaharu Nakano +11 more
TL;DR: A novel missense mutation of a G‐to‐T transition at nucleotide 841 in the GFAP gene that results in the substitution of arginine for leucine at amino acid residue 276 (R276L) is found, suggesting a common molecular mechanism underlies the three Alexander's disease subtypes.
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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations
Haruo Shimazaki,Yoshihisa Takiyama,Kumi Sakoe,K. Ikeguchi,Kenji Niijima,J. Kaneko,Michito Namekawa,T. Ogawa,Hidetoshi Date,Shoji Tsuji,Imaharu Nakano,Masatoyo Nishizawa +11 more
TL;DR: Clinical heterogeneity in the patients with EAOH was found, including one insertion and two missense mutations including a novel missense one, which was located at a highly conserved amino acid residue in the aprataxin gene product.
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A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
Haruo Shimazaki,Yoshihisa Takiyama,Hiroyuki Ishiura,Chika Sakai,Yuichi Matsushima,Hideyuki Hatakeyama,Junko Honda,Kumi Sakoe,Tametou Naoi,Michito Namekawa,Yoko Fukuda,Yuji Takahashi,Jun Goto,Shoji Tsuji,Yu-ichi Goto,Imaharu Nakano +15 more
TL;DR: This novel nonsense mutation in C12orf65 could cause AR-HSP with optic atrophy and neuropathy, resulting in a premature stop codon and dysfunction of mitochondrial translation could be one of the pathogenic mechanisms underlying HSPs.
Journal ArticleDOI
Identification of a SACS gene missense mutation in ARSACS
T. Ogawa,Yoshihisa Takiyama,Kumi Sakoe,K. Mori,Michito Namekawa,Haruo Shimazaki,Imaharu Nakano,Masatoyo Nishizawa +7 more
TL;DR: The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).
Journal ArticleDOI
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis
Tomokatsu Yoshida,Masayuki Sasaki,Mari Yoshida,Michito Namekawa,Yuji Okamoto,Seiichi Tsujino,Hiroshi Sasayama,Ikuko Mizuta,Masanori Nakagawa +8 more
TL;DR: New clinical guidelines for diagnosing AxD are proposed based on simplified classifications: cerebral AxD (type 1), bulbospinal AxD(type 2), and intermediate form ( type 3).