Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Motohiro Akagi"'
Autor:
Seishi Terada, Shigetoshi Kuroda, Hidenori Yoshida, Osamu Yokota, Naoko Katayama, Hiroshi Takata, Yosuke Uchitomi, Naoya Takeda, Hideki Ishizu, Motohiro Akagi, Takashi Haraguchi, Yuetsu Ihara, Yuki Kishimoto
Publikováno v:
Neuropathology. 31:531-539
We report here an autopsy case of sporadic adult-onset Hallervorden-Spatz syndrome, also known as neurodegeneration with brain iron accumulation type 1 (NBIA1), without hereditary burden. A 49-year-old woman died after a 27-year disease course. At th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8dc9a2f258e612f4c20421c0dc09c1c6
https://doi.org/10.1111/j.1440-1789.2010.01186.x
https://doi.org/10.1111/j.1440-1789.2010.01186.x
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 89:5847-5850
Hypokalemic metabolic tubulopathy, such as in Bartter syndrome and Gitelman syndrome, is caused by the dysfunction of renal electrolyte transporters. Despite advances in molecular genetics with regard to hypokalemic metabolic tubulopathy, recent repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a56323b06422b3b49fcff845289bb4
https://doi.org/10.1210/jc.2004-0775
https://doi.org/10.1210/jc.2004-0775
Autor:
Masako Taniike, Yoko Miyoshi, Shin Nabatame, Keiichi Ozono, Ikuko Mohri, Norio Sakai, Motohiro Akagi, Kumi Kato-Nishimura, Naoko Tachibana
Publikováno v:
The Open Sleep Journal. 4:26-28
Mandibuloacral dysplasia (MAD; MIM 248370, 608612) is a rare progeroid syndrome with autosomal reces- sive inheritance. It is characterized by mandibular hypoplasia, acroosteolysis, delayed closure of the cranial sutures, skin atrophy with mottled hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b13162ec3cb3dd466bc1cd0be86972d2
https://doi.org/10.2174/1874620901104010026
https://doi.org/10.2174/1874620901104010026
Autor:
Koji Inui, Kuriko Shimono, Toshiyuki Mano, Motohiro Akagi, Takashi Muramatsu, Minoru Yamada, Jiro Ono, Hiroko Tsukamoto, Shintaro Okada, Norio Sakai, Katsumi Imai
Publikováno v:
Brain and Development. 23:212-215
Rett syndrome (RTT) is one of the most common neurodevelopmental disorders in females. Recently, this disease was found to be linked with mutations in the methyl-CpG-binding protein 2 gene (MECP2) and various mutations have been reported. To explore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093f8d44a6fb422b0234f811f89977b7
https://doi.org/10.1016/s0387-7604(01)00197-8
https://doi.org/10.1016/s0387-7604(01)00197-8
Autor:
Koji Inui, Shintaro Okada, Motohiro Akagi, Shigeo Nakajima, Haruhiko Hirai, Masaaki Shima, Nobuhiko Shimidzu
Publikováno v:
Nihon Shoni Jinzobyo Gakkai Zasshi. 12:131-134
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1da87054677f0ada51c05fc0a56bc3dc
https://doi.org/10.3165/jjpn.12.131
https://doi.org/10.3165/jjpn.12.131
Autor:
Masako Taniike, Masanobu Kawai, Motohiro Akagi, Hiroko Tsukamoto, Norio Sakai, Sotaro Mushiake, Keiichi Ozono, Koji Inui, Susumu Miyake
Publikováno v:
Brain and Development. 28:60-62
We report the mutation analysis of a Japanese patient diagnosed with infantile-type Alexander disease. The genetic analysis revealed a new missense mutation, an A to G transition at nucleotide position 1026 in exon 6, leading to the substitution of g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f65d42093d9c8eb362bea403cdc0490
https://doi.org/10.1016/j.braindev.2005.03.011
https://doi.org/10.1016/j.braindev.2005.03.011
Autor:
Kouzi Matsuzaki, Yu-ichi Goto, Koji Inui, Hiroko Tsukamoto, Minoru Yamada, Shintaro Okada, Motohiro Akagi, Norio Sakai, Ikuya Nonaka, Takashi Muramatsu
Publikováno v:
Neuromuscular Disorders. 12:53-55
A T-to-G transition at nucleotide 9176 (T9176G) in the mitochondrial adenosine triphosphate 6 gene (MTATP6) was detected in two siblings with Leigh syndrome. Heteroplasmy was observed in the mother’s leukocytes. The T9176G mutation changes a highly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::254940a792da5c855e0303ccc459e7fe
https://doi.org/10.1016/s0960-8966(01)00242-5
https://doi.org/10.1016/s0960-8966(01)00242-5
Autor:
Takashi, Haraguchi, Seishi, Terada, Hideki, Ishizu, Osamu, Yokota, Hidenori, Yoshida, Naoya, Takeda, Yuki, Kishimoto, Naoko, Katayama, Hiroshi, Takata, Motohiro, Akagi, Shigetoshi, Kuroda, Yuetsu, Ihara, Yosuke, Uchitomi
Publikováno v:
Neuropathology : official journal of the Japanese Society of Neuropathology. 31(5)
We report here an autopsy case of sporadic adult-onset Hallervorden-Spatz syndrome, also known as neurodegeneration with brain iron accumulation type 1 (NBIA1), without hereditary burden. A 49-year-old woman died after a 27-year disease course. At th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e6916335ebfecce341d1b9c9428db402
https://pubmed.ncbi.nlm.nih.gov/21276079
https://pubmed.ncbi.nlm.nih.gov/21276079
Autor:
Masahiro Nakayama, Kazumasa Otani, Yasuhiro Suzuki, Koji Inui, Motohiro Akagi, Hiroyuki Ida, Keiko Yanagihara, Shintaro Okada
Publikováno v:
The Journal of pediatrics. 138(1)
We report a new variant type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, gastroesophageal reflux, and fibrous thickening of splenic and hepatic capsules. This patient had 1 D409H allele. He differed from oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c6789d19295134ba02fdaf332fdc3e7
https://pubmed.ncbi.nlm.nih.gov/11148530
https://pubmed.ncbi.nlm.nih.gov/11148530
Autor:
Koji Inui, Shintaro Okada, Hiroko Tsukamoto, Toshinori Nishigaki, Motohiro Akagi, Takashi Muramatsu
Publikováno v:
Braindevelopment. 22(1)
Fucosidosis is a rare autosomal recessive disorder resulting from a deficiency of alpha-L-fucosidase. In this report, we describe clinical and magnetic resonance image (MRI) findings of a chronic infantile type patient heterozygous for a nonsense mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::224ac0510bf997b993442aef1fa1c670
https://pubmed.ncbi.nlm.nih.gov/10761834
https://pubmed.ncbi.nlm.nih.gov/10761834