M
Masayuki Yokochi
Publications - 14
Citations - 5908
Masayuki Yokochi is an academic researcher. The author has contributed to research in topics: Gene & Vasculitis. The author has an hindex of 10, co-authored 14 publications receiving 5566 citations.
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Journal ArticleDOI
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Tohru Kitada,Shuichi Asakawa,Nobutaka Hattori,Hiroto Matsumine,Yasuhiro Yamamura,Shinsei Minoshima,Masayuki Yokochi,Yoshikuni Mizuno,Nobuyoshi Shimizu +8 more
TL;DR: Mutations in the newly identified gene appear to be responsible for the pathogenesis of Autosomal recessive juvenile parkinsonism, and the protein product is named ‘Parkin’.
Journal ArticleDOI
Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q
Hideo Mori,Tomoyoshi Kondo,Masayuki Yokochi,Hiroto Matsumine,Y. Nakagawa-Hattori,T. Miyake,K Suda,Yoshikuni Mizuno +7 more
TL;DR: Results of pathologic and biochemical studies in a patient with 6q-linked autosomal recessive juvenile parkinsonism suggest the pathologic heterogeneity of 6Q-linked AR-JP.
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Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals.
Nobutaka Hattori,Tohru Kitada,Tohru Kitada,Hiroto Matsumine,Shuichi Asakawa,Yasuhiro Yamamura,Hiroyo Yoshino,Tomonori Kobayashi,Masayuki Yokochi,Mei Wang,Asako Yoritaka,Tomoyoshi Kondo,Shigeki Kuzuhara,Shigenobu Nakamura,Nobuyoshi Shimizu,Yoshikuni Mizuno +15 more
TL;DR: The findings indicate that loss of function of the Parkin protein results in the clinical phenotype of AR‐JP and that subregions between introns 2 and 5 of the parkin gene are mutational hot spots.
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Polymorphism of the lipoprotein lipase gene and risk of atherothrombotic cerebral infarction in the Japanese.
Yumi Shimo-Nakanishi,Takao Urabe,Nobutaka Hattori,Yoshiro Watanabe,Takehiko Nagao,Masayuki Yokochi,Makoto Hamamoto,Yoshikuni Mizuno +7 more
TL;DR: The results suggest that the Ser447Stop mutation of the LPL gene is a novel genetic marker for low risk of atherothrombotic cerebral infarction.
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Preserved cardiac sympathetic nerve accounts for normal cardiac uptake of MIBG in PARK2.
Satoshi Orimo,Takeshi Amino,Masayuki Yokochi,Tohru Kojo,Toshiki Uchihara,Atsushi Takahashi,Koichi Wakabayashi,Hitoshi Takahashi,Nobutaka Hattori,Yoshikuni Mizuno +9 more
TL;DR: It is confirmed that cardiac sympathetic nerve is well preserved in PARK2 with a homozygous exon deletion, which accounts for normal cardiac uptake of MIBG, which might be of potential diagnostic value to indicate the absence of Lewy body pathology, even in patients with levodopa‐responsive Parkinsonism.