Zobrazeno 1 - 10
of 556
pro vyhledávání: '"Naomichi Matsumoto"'
Autor:
Ken Saida, Pin Fee Chong, Asuka Yamaguchi, Naka Saito, Hajime Ikehara, Eriko Koshimizu, Rie Miyata, Akira Ishiko, Kazuyuki Nakamura, Hidenori Ohnishi, Kei Fujioka, Takafumi Sakakibara, Hideo Asada, Kohei Ogawa, Kyoko Kudo, Eri Ohashi, Michiko Kawai, Yuichi Abe, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Mitsuhiro Kato, Ryutaro Kira, Naomichi Matsumoto
Publikováno v:
Human Genetics. 141:1771-1784
Pigmentary mosaicism of the Ito type, also known as hypomelanosis of Ito, is a neurocutaneous syndrome considered to be predominantly caused by somatic chromosomal mosaicism. However, a few monogenic causes of pigmentary mosaicism have been recently
Autor:
Yi Hong Liu, Ying Tsen Chou, Fu Pang Chang, Wei Ju Lee, Yuh Cherng Guo, Cheng Ta Chou, Hui Chun Huang, Takeshi Mizuguchi, Chien Chen Chou, Hsiang Yu Yu, Kai Wei Yu, Hsiu Mei Wu, Pei Chien Tsai, Naomichi Matsumoto, Yi Chung Lee, Yi Chu Liao
Publikováno v:
Brain. 145:3010-3021
Neuronal intranuclear inclusion disease (NIID), caused by an expansion of GGC repeats in the 5′-untranslated region of NOTCH2NLC, is an important but underdiagnosed cause of adult-onset leukoencephalopathies. The present study aimed to investigate
Autor:
Toshiyuki Itai, Zheng Wang, Gen Nishimura, Hirofumi Ohashi, Long Guo, Yasuhiro Wakano, Takahiro Sugiura, Hiromi Hayakawa, Mayumi Okada, Takashi Saisu, Ayana Kitta, Hiroshi Doi, Kenji Kurosawa, Yoshihiro Hotta, Katsuhiro Hosono, Miho Sato, Kenji Shimizu, Kazuharu Takikawa, Seiji Watanabe, Naho Ikeda, Mitsuyoshi Suzuki, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto, Shiro Ikegawa
Publikováno v:
Clinical Genetics. 102:3-11
Kyphomelic dysplasia is a heterogeneous group of skeletal dysplasias characterized by severe bowing of the limbs associated with other variable findings, such as narrow thorax and abnormal facies. We searched for the genetic etiology of this disorder
Autor:
Satoko Miyatake, Kunihiro Yoshida, Eriko Koshimizu, Hiroshi Doi, Mitsunori Yamada, Yosuke Miyaji, Naohisa Ueda, Jun Tsuyuzaki, Minori Kodaira, Hiroyuki Onoue, Masataka Taguri, Shintaro Imamura, Hiromi Fukuda, Kohei Hamanaka, Atsushi Fujita, Mai Satoh, Takabumi Miyama, Nobuko Watanabe, Yusuke Kurita, Masaki Okubo, Kenichi Tanaka, Hitaru Kishida, Shigeru Koyano, Tatsuya Takahashi, Yoya Ono, Kazuhiro Higashida, Nobuaki Yoshikura, Katsuhisa Ogata, Rumiko Kato, Naomi Tsuchida, Yuri Uchiyama, Noriko Miyake, Takayoshi Shimohata, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto
Publikováno v:
Brain. 145:1139-1150
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slow-progressing multisystem neurodegenerative disorder. Biallelic AAGGG repeat expansion in RFC1 has been identified as causative of this disease, and repeat conf
Autor:
Eiji Isozaki, Tomoya Kawazoe, Takeshi Mizuguchi, Akihiro Kawata, Ichizo Nishino, Naomichi Matsumoto, Yuichi Goto, Shinsuke Tobisawa, Hiroshi Yoshihashi, Takashi Komori, Naohiro Egawa, Kazuhito Miyamoto, Akinori Uruha, Keizo Sugaya
Publikováno v:
Internal Medicine. 61:547-552
We herein report a case of myoclonic epilepsy with ragged-red fibers (MERRF) harboring a novel variant in mitochondrial cysteine transfer RNA (MT-TC). A 68-year-old woman presented with progressive myoclonic epilepsy with optic atrophy and peripheral
Autor:
Takeshi Mizuguchi, Kazuhiro Iwama, Kazuhiro Ogata, Noriko Miyake, Kohei Hamanaka, Atsushi Fujita, Ken Saida, Satoko Miyatake, Masamune Sakamoto, Eriko Koshimizu, Hiroki Maeda, Junya Tamaoki, Makoto Kobayashi, Masayuki Sasaki, Toru Sengoku, Muzhirah Haniffa, Haruna Yokoyama, Naomichi Matsumoto, Futoshi Sekiguchi, Masahiro Kikuchi
Publikováno v:
Clinical Genetics. 100:722-730
Cerebellar ataxia is a genetically heterogeneous disorder. GEMIN5 encoding an RNA-binding protein of the survival of motor neuron complex, is essential for small nuclear ribonucleoprotein biogenesis, and it was recently reported that biallelic loss-o
Autor:
Akira, Matsumoto, Yoshiyuki, Ogawa, Yuri, Uchiyama, Tetsuya, Ishikawa, Chiaki, Naito, Nobuhiko, Kobayashi, Yuri, Miyazawa, Takuma, Ishizaki, Madoka, Inoue, Yuichi, Moteki, Saki, Kitazawa, Masami, Murakami, Naomichi, Matsumoto, Hiroshi, Handa
Publikováno v:
[Rinsho ketsueki] The Japanese journal of clinical hematology. 63(10)
From a young age, a 63-year-old Japanese man had experienced difficulties with hemostasis during tooth extraction and epistaxis and swelling of bruised areas. He had previously been diagnosed with mild hemophilia (FVIII:C 8.5%) at age of 60 due to sw
Autor:
Satoko, Miyatake, Naomichi, Matsumoto
Publikováno v:
Brain and nerve = Shinkei kenkyu no shinpo. 74(11)
Biallelic intronic repeat expansion in the RFC1 gene was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Its clinical features include late-onset cerebellar ataxia, sensory neuropathy (or neuronopa
Publikováno v:
Rinsho shinkeigaku = Clinical neurology. 62(11)
The patient exhibited plantarflexion during walking at the age of five. He then developed writer's cramp at the age of six, dysphonia at 15 years, and action-induced dystonia with left knee elevation and trunk swinging when walking at 16 years, which
Autor:
Ying Sheng, Yuri Uchiyama, Clara Hammarström, Ane-Marte Øye, Jan Cezary Sitek, Paul Hoff Backe, Hanne Sagsveen Hjorthaug, Anne M. Comi, Kaja Kristine Selmer, Olav Sundnes, Jonathan Pevsner, Magnus Dehli Vigeland, Roar Fjær, Katarzyna Marciniak, Naomichi Matsumoto, Guttorm Haraldsen, Johanna Hol Fosse, Tor Espen Stav-Noraas
Publikováno v:
Human Molecular Genetics
Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causi