Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Tamami Yano"'
Autor:
Mari Asaoka, Tetsuhiro Fukuyama, Naohisa Kawamura, Tamami Yano, Takayoshi Kawabata, Kotaro Nakano, Eriko Kikuchi, Tomoyuki Miyamoto, Mika Inoue, Akihisa Okumura, Masato Hiyane, Etsushi Toyofuku, Yuichi Takami, Yusaku Endo, Keiko Tanaka-Taya, Nobuyoshi Sugiyama, Yu Tsuyusaki, Sawa Yasumoto, Keiko Suzuki, Nobuko Moriyama, Takako Fujita, Yasuhiro Suzuki, Eri Takeshita, Hitoshi Mikami, Yuichi Abe, Ryutaro Kira, Chiharu Miyatake, Hiroyuki Torisu, Akira Kumakura, Akane Kanazawa, Tatsuharu Sato, Yuya Takahashi, Hiroshi Terashima, Sonoko Kubota, Genrei Ohta, Mariko Kasai, Yu Ishida, Pin Fee Chong, Noboru Yoshida, Shinichiro Goto, Taira Toki, Ayako Hattori, Wakako Ishii, Kenichi Tanaka, Miho Yamamuro, Sahoko Ono, Yukihiko Konishi, Harushi Mori, Nozomi Koran, Kazuhide Ohta, Kenichi Sakajiri, Michiaki Nagura, Kyoko Ban
Publikováno v:
Pediatric Neurology. 116:14-19
We summarize the long-term motor outcome and disability level in a cluster of pediatric patients with acute flaccid myelitis (AFM) associated with the enterovirus D68 outbreak in 2015.This is a nationwide follow-up questionnaire analysis study. Clini
Autor:
Tamami Yano, Nobuhiko Okamoto, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto, Tomoe Yanagishita
Publikováno v:
Human mutationREFERENCES. 41(12)
Chromosomal triplications can be classified into recurrent and non-recurrent triplications. Most of the non-recurrent triplications are embedded in duplicated segments, and duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) has been esta
Autor:
Hiroki Kubota, Daiki Kondo, Ikuko Takahashi, Yoko Sato, Miyuki Toyono, Atsuko Noguchi, Yukio Sawaishi, Tamami Yano, Tsutomu Takahashi
Publikováno v:
Brain and Development. 40:760-767
Objective To reveal a molecular lesion in the ZC4H2 gene in a Japanese family with arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), and to characterize clinical features of patients with ZC4H2 gene mutations through a litera
Autor:
Rumiko Takayama, Toshiyuki Yamamoto, Hiroko Ikeda, Keiko Shimojima, Tamami Yano, Yuki Ueda, Katsumi Imai
Publikováno v:
Brain and Development. 38:280-284
Epileptic encephalopathy, which commences during early infancy, is a severe epileptic syndrome that manifests as age-dependent seizures and severe developmental delay. The syntaxin-binding protein 1 gene (STXBP1) is one of the genes responsible for e
Autor:
Chikako Oyama, Satoko Tsuchida, Yukio Sawaishi, Atsuko Noguchi, Ikuko Takahashi, Hiroki Kubota, Daiki Kondo, Hiroaki Tamura, Tamami Yano, Tsutomu Takahashi, Shinichi Moriwaki
Publikováno v:
The Tohoku Journal of Experimental Medicine. 239:231-235
Nucleotide excision repair (NER) is an essential biological pathway protecting against ultraviolet light-induced DNA damage. Deficient NER causes a group of rare genetic disorders including two autosomal recessive diseases, xeroderma pigmentosum (XP)
Autor:
Ikuko Takahashi, Chikako Oyama, Daiki Kondo, Tsutomu Takahashi, Tamami Yano, Atsuko Noguchi, Hiroaki Tamura
Publikováno v:
Human Genome Variation, Vol 5, Iss 1, Pp 1-3 (2018)
Human Genome Variation
Human Genome Variation
Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hypochondroplasia (HCH). A novel mutation (c
Autor:
Hiroyuki Torisu, Masafumi Sanefuji, Yukio Sawaishi, Tamami Yano, Toshiro Hara, Yui Yamaguchi-Takada, Yoko Yoshikawa, Yoshito Ishizaki
Publikováno v:
Brain and Development. 35:441-444
We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay
Autor:
Yukiyoshi Shirasaka, Iori Ohmori, Tamami Yano, Makiko Osawa, Hitoshi Osaka, Satoru Nakasu, Toru Hoshida, Noriyuki Akasaka, Ayako Muto, Satoru Takahashi, Akie Miyamoto, Kenji Sugai, Yukio Sawaishi, Shin Nabatame, Motomasa Suzuki, Yukitoshi Takahashi, Hirokazu Oguni
Publikováno v:
Brain and Development. 32:445-453
Purpose: Rasmussen’s encephalitis (RE) is a progressive and catastrophic epileptic disorder caused by chronic localized encephalitis. We performed a nationwide survey of RE to assess the clinical picture, treatment effect, and prognosis of Japanese
Autor:
Hiroaki Kubota, Junko Arii, Takashi Kanbayashi, Hideaki Kondo, Tetsuo Shimizu, Yoshihiko Kaneko, Naohisa Miyakoshi, Kazuo Mishima, Yuriko Hayashi-Ogawa, Tamami Yano
Publikováno v:
Sleep and Biological Rhythms. 4:186-189
Narcolepsy and other sleep disorders are underrecognized in children; therefore, the final diagnosis and initiation of treatment is often delayed. This is due to the fact that the expression of sleep-related symptoms in children is often different fr
Publikováno v:
The Tohoku Journal of Experimental Medicine. 205:287-291
Nearly 80% of patients with temporal lobe epilepsy have some types of lesion identified by conventional 1.5 tesla (T) magnetic resonance imaging (MRI). We performed high-field 3 T MRI in a 5-year-old patient with recurrent complex partial seizures wh