Zobrazeno 1 - 10
of 271
pro vyhledávání: '"Hiroyuki, Ishiura"'
Autor:
Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, Tetsuya Oda, Tomoko Ikkaku, Ichiro Yokota, Yuji Takahashi, Yuta Suzuki, Takashi Matsukawa, Jun Goto, Kishin Koh, Yoshihisa Takiyama, Shinichi Morishita, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 946-957 (2024)
Abstract Objective Amyotrophic lateral sclerosis (ALS) is a devastating, incurable neurodegenerative disease. A subset of ALS patients manifests with early‐onset and complex clinical phenotypes. We aimed to elucidate the genetic basis of these case
Externí odkaz:
https://doaj.org/article/a933b528a8fe470791e3994a6a0b880c
Autor:
Toshiyuki Kakumoto, Takashi Matsukawa, Hiroyuki Ishiura, Harushi Mori, Shoji Tsuji, Tatsushi Toda
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 7, Pp 1230-1238 (2023)
ABSTRACT Objective Adrenoleukodystrophy (ALD) has a poor prognosis when it progresses to the cerebral form (CALD). The aim of this study is to investigate whether cerebrospinal fluid (CSF) neurofilament light chain (cNfL) is a sensitive biomarker for
Externí odkaz:
https://doaj.org/article/db12051a89a144e98c1a8f3ab150946e
Autor:
Haruka Masuzawa, MD, Fumio Suzuki, MD, PhD, Shiori Amemiya, MD, PhD, Kenta Orimo, MD, Hiroyuki Ishiura, MD, PhD, Ryo Hara, MD, Tatsushi Toda, MD, PhD, Teruo Nakazawa, MD, Akira Honda, MD, PhD, Mariko Tanaka, MD, PhD, Munetoshi Hinata, MD, PhD, Osamu Abe, MD, PhD
Publikováno v:
Radiology Case Reports, Vol 18, Iss 5, Pp 1929-1932 (2023)
Intravascular lymphoma (IVL) is difficult to diagnose because its clinical presentation and laboratory and imaging findings are nonspecific. Herein, we report a case of IVL presenting as a lesion in the splenium of the corpus callosum. A 52-year-old
Externí odkaz:
https://doaj.org/article/72225dd3080c4d418722da4c60b055af
Autor:
Ryota Kobayashi, Hiroya Naruse, Shinobu Kawakatsu, Chifumi Iseki, Yuya Suzuki, Shingo Koyama, Daichi Morioka, Hiroyuki Ishiura, Jun Mitsui, Yasuyuki Ohta, Shoji Tsuji, Tatsushi Toda, Koichi Otani
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Variants in the valosin-containing protein (VCP) gene were identified as one of the causes for inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia (FTD). Previously identified pathogenic v
Externí odkaz:
https://doaj.org/article/5741575af9914cad999707841c3cfa3c
Autor:
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Ruriko Kitao, Takehiko Morimoto, Takaki Taniguchi, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 5, Pp 747-755 (2022)
Abstract Background Biallelic POLR3B mutations cause a rare hypomyelinating leukodystrophy. De novo POLR3B heterozygous mutations were recently associated with afferent ataxia, spasticity, variable intellectual disability, and epilepsy, and predomina
Externí odkaz:
https://doaj.org/article/933177de30404783ba36c2c1d569306a
Autor:
Masanori Kurihara, Tatsuo Mano, Fumihiro Eto, Ikuko Yao, Kenichiro Sato, Gaku Ohtomo, Taro Bannai, Shota Shibata, Hiroyuki Ishiura, Masako Ikemura, Tomoyasu Matsubara, Maho Morishima, Yuko Saito, Shigeo Murayama, Tatsushi Toda, Mitsutoshi Setou, Atsushi Iwata
Publikováno v:
Neurobiology of Disease, Vol 177, Iss , Pp 105989- (2023)
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the neurons, glial cells, and other somatic cells. Although CGG repeat expansions in NOTCH2NLC have been id
Externí odkaz:
https://doaj.org/article/804e837d61b44f6ab279139ab2c09bff
Autor:
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akihiro Hashiguchi, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies. The aim of this study was to ide
Externí odkaz:
https://doaj.org/article/547f2ea9003543ea8f715792219a3faa
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa ty
Externí odkaz:
https://doaj.org/article/3a0726ebaba047179a558007b48386e6
Autor:
Hiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, Ryo Inuzuka, Yuki Taniguchi, Kristine Joyce Porto, Hiroyuki Ishiura, Jun Mitsui, Hiroyuki Morita, Issei Komuro
Publikováno v:
Clinical Case Reports, Vol 10, Iss 2, Pp n/a-n/a (2022)
Abstract Congenital contractural arachnodactyly (CCA) is caused by pathogenic FBN2 variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown. Here, we report on a familial case of CCA, in which a novel multiexon d
Externí odkaz:
https://doaj.org/article/625ec588b80e40d9940d87d25c621beb
Autor:
Naoki Takegami, Takashi Matsukawa, Masashi Hamada, Shuichi Tanifuji, Takayuki Tamura, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Shoji Tsuji, Tatsushi Toda
Publikováno v:
Internal Medicine; 2024, Vol. 54 Issue 7, p999-1004, 6p