Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Miwako Nagasaka"'
Autor:
Hiroaki Hanafusa, Hiroshi Yamaguchi, Hidehito Kondo, Miwako Nagasaka, Ming Juan Ye, Shizuka Oikawa, Shoichi Tokumoto, Kazumi Tomioka, Masahiro Nishiyama, Naoya Morisada, Masafumi Matsuo, Kandai Nozu, Hiroaki Nagase
Publikováno v:
Brain and Development. 45:317-323
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fba05e9092017fb66554b3fcefd9d67e
https://doi.org/10.1016/j.braindev.2023.01.008
https://doi.org/10.1016/j.braindev.2023.01.008
Autor:
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi, Hidehito Kondo, Erina Nakahara, Keiko Shimojima Yamamoto, Hitoshi Kanno, Yoshinori Katayama
Publikováno v:
American Journal of Case Reports. 24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de6c32c58b764257960b5c58db80f56b
https://doi.org/10.12659/ajcr.938396
https://doi.org/10.12659/ajcr.938396
Autor:
Sarantuya Enkhjargal, Kana Sugahara, Behnoush Khaledian, Miwako Nagasaka, Hidehito Inagaki, Hiroki Kurahashi, Hisatsugu Koshimizu, Tatsushi Toda, Mariko Taniguchi-Ikeda
Publikováno v:
Human molecular genetics.
Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder caused by fukutin (FKTN) gene mutations. FCMD is the second most common form of childhood muscular dystrophy in Japan, and the most patients possess a homozygous retrotr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc37570b68a0f7b73a152df834f53b4f
https://pubmed.ncbi.nlm.nih.gov/36426838
https://pubmed.ncbi.nlm.nih.gov/36426838
Autor:
Risa Harada, Mariko Taniguchi-Ikeda, Miwako Nagasaka, Tatsuya Nishii, Atsuyuki Inui, Tetsushi Yamamoto, Ichiro Morioka, Ryosuke Kuroda, Kazumoto Iijima, Kandai Nozu, Yoshitada Sakai, Tatsushi Toda
Publikováno v:
Neuromuscular disorders : NMD. 32(9)
Fukuyama-type congenital muscular dystrophy (FCMD) is severe, childhood-onset muscular dystrophy. Recently, our group has discovered a potential treatment using antisense oligonucleotides. Therefore, an effective, reliable, and objective method of as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145f5377b4fba5294593d551706bdf89
https://pubmed.ncbi.nlm.nih.gov/35902324
https://pubmed.ncbi.nlm.nih.gov/35902324
Publikováno v:
Fetal Morph Functional Diagnosis ISBN: 9789811581700
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a5028259819123b0240a6d0ed490081
https://doi.org/10.1007/978-981-15-8171-7_8
https://doi.org/10.1007/978-981-15-8171-7_8
Autor:
Fumihiko Suzuki, Maki Kato, Takema Kato, Tomoya Nao, Tomoaki Ioroi, Keiko Tanaka, Kazumoto Iijima, Hidehito Inagaki, Yuki Naru, Shunsuke Miyai, Miwako Nagasaka, Laura K. Conlin, Hiroki Kurahashi, Mariko Taniguchi-Ikeda, Rie Kawamura, Makiko Yoshida, Makiko Tsutsumi
Publikováno v:
J Hum Genet
Sex-chromosome discordant chimerism (XX/XY chimerism) is a rare chromosomal disorder in humans. We report a boy with ambiguous genitalia and hypospadias, showing 46,XY[26]/46,XX[4] in peripheral blood cells. To clarify the mechanism of how this chime
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b4e497ddeb15d0e42fa8098c73a2b4e
https://europepmc.org/articles/PMC7324356/
https://europepmc.org/articles/PMC7324356/
Autor:
Daisuke Kurokawa, Eiko Uchino, Keiji Yamana, Kosuke Nishida, Kaori Fujita, Ichiro Morioka, Tsubasa Koda, Sota Iwatani, Chika Shirai, Mariko Taniguchi-Ikeda, Miwako Nagasaka, Kazumoto Iijima
Publikováno v:
Pediatrics International. 58:372-376
Background To treat children born small for gestational age (SGA) with severe short stature, treatment with growth hormone (GH) has been approved in the USA, Europe, and Japan, but no population-based studies have reported their prevalence. The aims
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8785552331016144959689baf2eaa745
https://doi.org/10.1111/ped.12859
https://doi.org/10.1111/ped.12859
Autor:
Akio Shibata, Hiroko Kodama, Tsubasa Koda, Tomoko Lee, Kiyomi Matsuo, Mariko Yagi, Akihiro Miwa, Yasuhiro Takeshima, Miwako Nagasaka, Tomoyuki Yokota, Kazumoto Iijima, Noriko Kusunoki, Ichiro Morioka
Publikováno v:
Brain and Development. 37:114-119
Background: Menkes disease is a lethal disorder associated with copper metabolism. Although early treatment with copper-histidine injections can improve outcomes, early diagnosis is difficult because the clinical features of Menkes disease are subtle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9df7c0cc38c3363455103f7976269287
https://doi.org/10.1016/j.braindev.2014.01.014
https://doi.org/10.1016/j.braindev.2014.01.014
Autor:
Kenji Kishimoto, Daiichiro Hasegawa, Noriyuki Nishimura, Kazumoto Iijima, Miwako Nagasaka, Shinichiro Kawamoto, Ichiro Morioka, Yoshiyuki Kosaka, Hideto Yamada, Hiroshi Matsuoka, Takeshi Mori, Yasuko Mori, Satoshi Nagamata, Kimikazu Yakushijin, Akiko Kawabata
Publikováno v:
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology. 102
Background CD134 (OX40), which is a cellular receptor for human herpesvirus-6B (HHV-6B) and expresses on activated T cells, may play a key role for HHV-6B replication after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Objectives Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99217f91c305a88c760724e256f7cd44
https://pubmed.ncbi.nlm.nih.gov/29494951
https://pubmed.ncbi.nlm.nih.gov/29494951