Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Seiichiro Yoshioka"'
Autor:
Masahiro Ito, Yasunari Sakai, Kazuyuki Nakamura, Jun-ichi Takanashi, Koichi Tanda, Jun Tohyama, Kanako Kishimoto, Seiichiro Yoshioka, Yukitoshi Takahashi, Kazuhiro Haginoya, Yu Kobayashi, Naomichi Matsumoto, Ryoko Honda, Masaya Kubota, Koji Tominaga, Hiroshi Fujita, Mitsuko Nakashima, Mitsuhiro Kato, Tomohide Goto, Manabu Tanaka, Takeshi Inoue, Hirotomo Saitsu
Publikováno v:
Brain and Development. 43:505-514
Objective Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4857acff8db1e707d5ced89c629e371f
https://doi.org/10.1016/j.braindev.2020.12.006
https://doi.org/10.1016/j.braindev.2020.12.006
Autor:
Kentaro Tamura, Masayuki Ito, Yoshihiro Maruo, Noriko Nishikura, Takafumi Sakakibara, Tomoyuki Takano, Yoshihiro Takeuchi, Fukiko Ryujin, Seiichiro Yoshioka
Publikováno v:
Pediatrics International. 58:496-500
Dysembryoplastic neuroepithelial tumors (DNT) are benign hamartomatous tumors characterized by intractable epilepsy and common localization in the supratentorial cortex, but thalamic involvement in DNT is extremely rare. A 2-year 4-month-old boy pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::657d7d811bbb4182dece904cd395f132
https://doi.org/10.1111/ped.12911
https://doi.org/10.1111/ped.12911
Autor:
Seiichiro Yoshioka, Keiko Shimojima, Yosuke Shigematsu, Shimada Shino, Yoshihiro Takeuchi, Naomichi Matsumoto, Toshiyuki Yamamoto, Yoshinori Tsurusaki
Publikováno v:
Brain and Development. 38:142-144
l-2-Hydroxyglutaric aciduria (l-2-HGA) is a rare inborn error of metabolism. Mainly, patients with this disorder exhibit neurological symptoms and characteristic neuroradiological findings, such as subcortical white matter abnormalities, which are be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::947d80d9a2536134d25d8aabd4f0baa4
https://doi.org/10.1016/j.braindev.2015.04.012
https://doi.org/10.1016/j.braindev.2015.04.012
Autor:
Emi Kasai-Yoshida, Satoko Kumada, Hirokazu Arakawa, Noriko Miyake, Noboru Mizushima, Noriko Sawaura, Hirofumi Kodera, Taki Nishimura, Kiyomi Nishiyama, Kazuhiro Muramatsu, Hiroya Nishida, Naomichi Matsumoto, Yoshinori Tsurusaki, Mitsuhiro Kato, Ai Hoshino, Mitsuko Nakashima, Yukiko Kondo, Fukiko Ryujin, Kenji Sugai, Hirotomo Saitsu, Seiichiro Yoshioka
Publikováno v:
Nature Genetics. 45:445-449
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently established subtype of neurodegeneration with brain iron accumulation (NBIA). By exome sequencing, we found de novo heterozygous mutations in WDR45 at Xp11.2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b96f28160510369cc0a0b52a6d68f322
https://doi.org/10.1038/ng.2562
https://doi.org/10.1038/ng.2562
Autor:
Fukiko, Ryujin, Takeya, Awashima, Noriko, Nishikura, Seiichiro, Yoshioka, Tomoyuki, Takano, Yoshihiro, Takeuchi
Publikováno v:
No to hattatsu = Brain and development. 47(1)
This study was undertaken to investigate the electroencephalographic (EEG) characteristics in patients with febrile status epilepticus.Medical records and EEG findings were retrospectively examined in 14 patients with febrile status epilepticus, who
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a4881a4d31660da2d50142b246cbcf96
https://pubmed.ncbi.nlm.nih.gov/25803905
https://pubmed.ncbi.nlm.nih.gov/25803905
Publikováno v:
Brain and Development. 34:796-798
Reversible cerebral vasoconstriction syndrome (RCVS) is a rare disorder characterized by acute onset, severe headache, with reversible vasoconstriction of cerebral arteries often accompanied by additional neurological symptoms. This syndrome is seen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4453383fd198d1d45af0f3160009d02b
https://doi.org/10.1016/j.braindev.2012.01.001
https://doi.org/10.1016/j.braindev.2012.01.001
Autor:
Jun, Matsui, Tomoyuki, Takano, Fukiko, Ryujin, Yuko, Anzai, Seiichiro, Yoshioka, Yoshihiro, Takeuchi, Yuichi, Goto
Publikováno v:
No to hattatsu = Brain and development. 46(5)
We experienced a case in which mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) was identified as complications following the onset of Leigh syndrome along with a 10191 TC mutation of the mitochondrial gene. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dfb08009ea6693fc98d2285d08969182
https://pubmed.ncbi.nlm.nih.gov/25403068
https://pubmed.ncbi.nlm.nih.gov/25403068
Autor:
Zenichiro Kato, Yoshinori Aoki, Toshiaki Taga, Yasuhiro Naiki, Seiichiro Yoshioka, Yasushi Uchida, Kentaro Omoya, Hideki Deguchi, Naomi Kondo
Publikováno v:
World journal of pediatrics : WJP. 8(2)
Sweet's syndrome (acute febrile neutrophilic dermatosis) is characterized by fever, polymorphonuclear leukocytosis of blood, painful plaques on the limbs, face and neck, and histologically a dense dermal infiltration with mature neutrophils. Sweet's
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a625f93183a021d2332a53b0e033e354
https://pubmed.ncbi.nlm.nih.gov/21874610
https://pubmed.ncbi.nlm.nih.gov/21874610
Autor:
Anzu, Takahashi, Hitoshi, Sejima, Seiichiro, Yoshioka, Kazuko, Kishi, Yukitoshi, Takahashi, Seiji, Yamaguchi
Publikováno v:
No to hattatsu = Brain and development. 40(1)
A 3-year-old boy was admitted to our hospital with repetitive drop attacks and generalized tonic-clonic seizures. Brain MRI, SPECT and blood laboratory tests did not show any abnormalities, while antibody to glutamate receptor epsilon 2 (GluR epsilon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2dbda16bc426bc200e6ee41a2a8a390f
https://pubmed.ncbi.nlm.nih.gov/18210862
https://pubmed.ncbi.nlm.nih.gov/18210862
Autor:
Seiichiro, Yoshioka, Kenji, Sugai, Yoshinao, Fujikawa, Hirofumi, Komaki, Eiji, Nakagawa, Masayuki, Sasaki
Publikováno v:
No to hattatsu = Brain and development. 39(6)
We report a case of a male infant with refractory epilepsy, demonstrating hemimegalencephaly with slowly progressive expansion. The patient experienced his first seizure at 4 months of age. Subsequently, tonic seizures occurred very frequently despit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8b9a483895da4a5335fc66958910750e
https://pubmed.ncbi.nlm.nih.gov/18027564
https://pubmed.ncbi.nlm.nih.gov/18027564