Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Takeshi Kanaumi"'
Autor:
Miwa Sohda, Naoto Kakinuma, Shinya Ueno, Yoshiko Haga, Kazuyoshi Watanabe, Shinichi Hirose, Yoshio Misumi, Bo Zhang, Sen Takeda, Atsushi Ishii, Takeshi Kanaumi, Motohiro Okada, Sachio Takashima, Sunao Kaneko
Publikováno v:
Epilepsy Research. 108:420-432
Mutations in GABRG2, which encodes the γ2 subunit of GABAA receptors, can cause both genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome. Most GABRG2 truncating mutations associated with Dravet syndrome result in premature termin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e1c876bb4df9bb45f3fdf1bf65ef86
https://doi.org/10.1016/j.eplepsyres.2013.12.005
https://doi.org/10.1016/j.eplepsyres.2013.12.005
Publikováno v:
International Journal of Developmental Neuroscience; Vol 31
International Journal of Developmental Neuroscience
International journal of developmental neuroscience, 31(8), 796-803. Elsevier Limited
International Journal of Developmental Neuroscience
International journal of developmental neuroscience, 31(8), 796-803. Elsevier Limited
Down syndrome (DS), the most common genetic cause of mental retardation, is characterized by reduced number of neurons and delayed myelination. Though non-neuronal cells in the brain are vital for the development, survival, and function of neurons, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81867d199fecb0df51d35b22f6f176ac
Autor:
Satoru Kai, Kazuo Watari, Yumi Ogawa, Ryuji Yoshimoto, Mayu Hase, Yoshie Segawa, Takeshi Kanaumi, Sachio Takashima
Publikováno v:
Rigakuryoho Kagaku. 22:45-48
大脳皮質の発達期には神経細胞の胞体が各領域で産生，分化した後，放射方向と接線方向に移動し層構造を形成するとされている。ヒト大脳皮質発達期の神経細胞に特異的なタンパク質
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8241fbf53bdd72b9a231452e9f459c2
https://doi.org/10.1589/rika.22.45
https://doi.org/10.1589/rika.22.45
Publikováno v:
Epilepsy Research. 71:47-53
Mutations of genes encoding GABA(A) receptor alpha 1 (GABARA1) and gamma 2 subunit (GABARG2) are associated with age-dependent epilepsy. The development of the subunits expression may be related to the age-dependency of epilepsy. Nevertheless, develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a54977aa3a80e0edf5a94dcb32b787
https://doi.org/10.1016/j.eplepsyres.2006.05.019
https://doi.org/10.1016/j.eplepsyres.2006.05.019
Publikováno v:
Pediatric Neurology. 34:235-238
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a syndrome associated with mitochondrial DNA mutations such as A3243G, the most common mutation. Ragged-red fibers and strongly succinate dehydrogenase-react
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f355c8bb070ca4daff0c341204311fa
https://doi.org/10.1016/j.pediatrneurol.2005.08.024
https://doi.org/10.1016/j.pediatrneurol.2005.08.024
Publikováno v:
Pediatric Neurology. 34:156-159
Methylmalonic acidemia is a rare disease, and its neuropathology in childhood has been rarely reported. A 3-year-old male with vitamin B12 nonresponsive type of methylmalonic acidemia developed repeated attacks of acidemia associated with common cold
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eb8056c69140ba2f4b231c3b981d53d
https://doi.org/10.1016/j.pediatrneurol.2005.07.006
https://doi.org/10.1016/j.pediatrneurol.2005.07.006
Autor:
Hideo Kimura, Takeshi Kanaumi, Hiroshi Iwasaki, Shinichi Hirose, Sachio Takashima, Akiko Ichinohe
Publikováno v:
Neuroembryology and Aging. 4:202-207
Down’s syndrome (DS) is characterized by intellectual disabilities and Alzheimer-type dementia. Cystathionine-β synthase (CBS) plays a role in the production of hydrogen sulfide (H2S) in the brain and is encoded by a gene which is localized in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a79559cb50c68a8ec8d36cb0a12c643
https://doi.org/10.1159/000118930
https://doi.org/10.1159/000118930
Autor:
Wood Yee Chan, Akiko Ichinohe, Min Dong, Hyoung Gon Lee, Alan W. Flake, Xiongwei Zhu, Hiroshi Iwasaki, Sachio Takashima, Gemma Casadesus, W.H. Kwong, Rudy J. Castellani, Mark A. Smith, Hideo Kimura, Xiaolin Wang, Enrico Danzer, A.K. Chan, Takeshi Kanaumi, George Perry, O. Sha, A.J. Burns, Shinichi Hirose
Publikováno v:
Neuroembryology and Aging. 4:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a392c6cf6f7036381fa2a902dd83e7f6
https://doi.org/10.1159/000121404
https://doi.org/10.1159/000121404
Publikováno v:
No to hattatsu = Brain and development. 39(3)
Wernicke encephalopathy (WE) is a neurologic disorder caused by a nutritional deficiency of thiamine. Since the lesion in WE consists of brain edema, diffusion weighted imaging (DWI) is quite useful for detecting the pathologic changes in WE, and can
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fcbc6632dcf1b1ef27deaf454dbe2ff0
https://pubmed.ncbi.nlm.nih.gov/17515136
https://pubmed.ncbi.nlm.nih.gov/17515136
Autor:
Sachio Takashima, Takeshi Kanaumi, Shinichi Hirose, Hiroshi Iwasaki, Akihisa Mitsudome, Masayuki Itoh
Publikováno v:
Braindevelopment. 30(5)
Several mutations of KCNQ2 and KCNQ3 are considered to be associated with benign familial neonatal convulsions (BFNC). BFNC is characterized by seizures starting within several days of life and spontaneous remission within weeks to months. KCNQ chann
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62a36b8a7a852ed0aeac0e075e6d07b7
https://pubmed.ncbi.nlm.nih.gov/18166285
https://pubmed.ncbi.nlm.nih.gov/18166285