Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Koichi Mizoguchi"'
Autor:
Shinichiro Hayashi, Tomohisa Yamaguchi, Ichizo Nishino, Yutaka Honma, Yuzo Tanaka, Luh Ari Indrawati, Satoru Noguchi, Aritoshi Iida, Koichi Mizoguchi, Masamichi Ikawa
Publikováno v:
Neuromuscular Disorders. 30:674-679
We report two Japanese patients with autosomal recessive limb-girdle muscular dystrophy type R25 (LGMDR25), harboring a novel recurrent homozygous nonsense variant of BVES. Muscle symptoms manifested from childhood to adulthood, initiated in the prox
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::097abcca1bbdeba8e80a2996d35a3f6f
https://doi.org/10.1016/j.nmd.2020.06.004
https://doi.org/10.1016/j.nmd.2020.06.004
Autor:
Koji Abe, Koichi Mizoguchi, Satoshi Kuwabara, Ryoichi Nakamura, Masashi Aoki, Masaya Oda, Masahisa Katsuno, Daichi Yokoi, Takashi Imai, Ryuji Kaji, Yuishin Izumi, Mizuki Ito, Kazuaki Kanai, Shiro Ikegawa, Michiaki Kubo, Akihiro Hirakawa, Aritoshi Iida, Koichi Okamoto, Ikuko Aiba, Shinsuke Ishigaki, Kenji Nakashima, Shoji Tsuji, Naoki Atsuta, Mitsuya Morita, Masahiro Nakatochi, Kazuko Hasegawa, Hazuki Watanabe, Akihiro Kawata, Akira Taniguchi, Gen Sobue, Osamu Kano, Hirohisa Watanabe
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 87:851-858
Objective To classify the patterns of functional decline in patients with sporadic amyotrophic lateral sclerosis (ALS) and explore the genetic backgrounds that modified these patterns. Methods We included 465 patients with sporadic ALS in the analysi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::832610ea96926365829772e8d4337842
https://doi.org/10.1136/jnnp-2015-311541
https://doi.org/10.1136/jnnp-2015-311541
Autor:
Shiro Ikegawa, Hirohisa Watanabe, Torao Tokuda, Kouichi Ozaki, Naoya Hosono, Susumu Saito, Yusuke Nakamura, Kazuma Kiyotani, Atsushi Takahashi, Shoji Tsuji, Tetsumasa Kamei, Kazuko Hasegawa, Toshihiro Tanaka, Masahiro Nakajima, Masashi Aoki, Gen Sobue, Fumiaki Tanaka, Naoyuki Kamatani, Tatsuhiko Tsunoda, Naoki Atsuta, Ryuji Kaji, Mitsuya Morita, Motoki Sano, Michiaki Kubo, Aritoshi Iida, Yozo Ohnishi, Taisei Mushiroda, Imaharu Nakano, Masahisa Katsuno, Shuichi Oshima, Koichi Mizoguchi, Yuji Takahashi
Publikováno v:
Human Molecular Genetics. 20:3684-3692
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the selective loss of motor neurons. Several susceptibility genes for ALS have been reported; however, ALS etiology and pathogenesis remain largely unknown. To identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa4ecc25a44d7132c2d4106c1b93d886
https://doi.org/10.1093/hmg/ddr268
https://doi.org/10.1093/hmg/ddr268
Autor:
Tomokazu Obi, Kenya Nishioka, Kiichi Ishiwata, Yoshikuni Mizuno, Owen A. Ross, Masashi Takanashi, Yuichi Inoue, Jennifer M. Kachergus, Matthew J. Farrer, Satoshi Kono, Mayumi Kitagawa, Nobutaka Hattori, Hisamasa Imai, Koichi Mizoguchi, Kenji Ishii
Publikováno v:
Movement Disorders. 24:1811-1819
SNCA duplication is a recognized cause of familial Parkinson's disease (PD). We aimed to explore the genetic and clinical variability in the disease manifestation. Molecular characterization was performed using real-time PCR, SNP arrays, and haplotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60b87fab6297fa82c25a3e714da83704
https://doi.org/10.1002/mds.22682
https://doi.org/10.1002/mds.22682
Autor:
Mei Wang, Manabu Funayama, Fayçal Hentati, Yoko Imamichi, N. Gouider-Khouja, Kazuko Hasegawa, Yoshikuni Mizuno, Shin-ichiro Kubo, Hiroyo Yoshino, Ruth Djaldetti, Yasuko Hatano, Yuanzhe Li, Matthew J. Farrer, Tatsushi Toda, Koichi Mizoguchi, Rivka Inzelberg, Nobutaka Hattori, Hiroyuki Tomiyama, Kenichi Sato, Chin-Song Lu, Rim Amouri, Eldad Melamed, Fumiya Obata, Hiroaki Miyajima, Tatsuya Hattori
Publikováno v:
Movement Disorders. 21:1102-1108
We screened LRRK2 mutations in exon 41 in 904 parkin-negative Parkinson's disease (PD) patients (868 probands) from 18 countries across 5 continents. We found three heterozygous missense (novel I2012T, G2019S, and I2020T) mutations in LRRK2 exon 41.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c012a0605dc549f4331e7bb0cd49f410
https://doi.org/10.1002/mds.20886
https://doi.org/10.1002/mds.20886
Autor:
Hiroyo Yoshino, Miho Murata, Andrew B. Singleton, Shin Hayashi, Kenichi Sato, Koichi Mizoguchi, Matthew J. Farrer, Tatsushi Toda, Hiroyuki Tomiyama, Nobutaka Hattori, Issei Imoto, Ryu Kuroda, Kenya Nishioka, Johji Inazawa, Yoshikuni Mizuno, Toshiaki Kitami, Hisamasa Imai
Publikováno v:
Annals of Neurology. 59:298-309
Objective Recently, genomic multiplications of α-synuclein gene (SNCA) have been reported to cause hereditary early-onset parkinsonism. The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant heredita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::085c673beb03141572fa60990418e385
https://doi.org/10.1002/ana.20753
https://doi.org/10.1002/ana.20753
Autor:
Masaaki Konagaya, Naoki Atsuta, Mitsuya Morita, Akihiro Hirakawa, Koichi Okamoto, Ryoichi Nakamura, Akihiro Kawata, Takashi Imai, Masashi Aoki, Ikuko Aiba, Masaya Oda, Akira Taniguchi, Gen Sobue, Ryuji Kaji, Shoji Tsuji, Kazuko Hasegawa, Yuishin Izumi, Hazuki Watanabe, Kotaro Ogaki, Mizuki Ito, Imaharu Nakano, Masahisa Katsuno, Koichi Mizoguchi, Koji Abe, Hirohisa Watanabe, Masanori Nakagawa, Jo Senda, Fumiaki Tanaka
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 84(12)
To clarify the emergence of muscle weakness in regions of the body that affect survival, and deterioration in activities of daily living (ADL) in amyotrophic lateral sclerosis (ALS) patients.We conducted a multicentre-based prospective cohort study o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742ea0f4fb24df2b40b2a0486cb38d0b
https://pubmed.ncbi.nlm.nih.gov/23933739
https://pubmed.ncbi.nlm.nih.gov/23933739
Autor:
Kenya, Nishioka, Owen A, Ross, Kenji, Ishii, Jennifer M, Kachergus, Kiichi, Ishiwata, Mayumi, Kitagawa, Satoshi, Kono, Tomokazu, Obi, Koichi, Mizoguchi, Yuichi, Inoue, Hisamasa, Imai, Masashi, Takanashi, Yoshikuni, Mizuno, Matthew J, Farrer, Nobutaka, Hattori
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 24(12)
SNCA duplication is a recognized cause of familial Parkinson's disease (PD). We aimed to explore the genetic and clinical variability in the disease manifestation. Molecular characterization was performed using real-time PCR, SNP arrays, and haplotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::15b80ec493f23d1d05cab2d3472e5772
https://pubmed.ncbi.nlm.nih.gov/19562770
https://pubmed.ncbi.nlm.nih.gov/19562770
Publikováno v:
Neuroscience Letters. 276:135-137
Autosomal-dominant familial amyotrophic lateral sclerosis (FALS) is associated with mutation in the gene that encodes Cu/Zn superoxide dismutase (SOD1). We identified a novel missense mutation of SOD-1 (Cys6Gly) in exon 1 in a Japanese woman and her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b6d01a1dd496703e96d640c3321a0fe
https://doi.org/10.1016/s0304-3940(99)00803-4
https://doi.org/10.1016/s0304-3940(99)00803-4
A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.
Autor:
Hazuki Watanabe, Naoki Atsuta, Akihiro Hirakawa, Ryoichi Nakamura, Masahiro Nakatochi, Shinsuke Ishigaki, Aritoshi Iida, Shiro Ikegawa, Michiaki Kubo, Daichi Yokoi, Hirohisa Watanabe, Mizuki Ito, Masahisa Katsuno, Yuishin Izumi, Mitsuya Morita, Kazuaki Kanai, Akira Taniguchi, Ikuko Aiba, Koji Abe, Koichi Mizoguchi
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry; Aug2016, Vol. 87 Issue 8, p851-858, 8p, 3 Charts, 3 Graphs