Zobrazeno 1 - 10
of 277
pro vyhledávání: '"Jun, Mitsui"'
Autor:
Takahiro Hobara, Yujiro Higuchi, Mari Yoshida, Masahito Suehara, Masahiro Ando, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Eiji Matsuura, Yuji Okamoto, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-14 (2024)
Abstract Primary familial brain calcification (PFBC) is a genetic neurological disorder characterized by symmetric brain calcifications that manifest with variable neurological symptoms. This study aimed to explore the genetic basis of PFBC and eluci
Externí odkaz:
https://doaj.org/article/7d9125ca83074ee1806a6efaf22d448d
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:
Yu Teranishi, Satoru Miyawaki, Masahiro Nakatochi, Atsushi Okano, Kenta Ohara, Hiroki Hongo, Daiichiro Ishigami, Yu Sakai, Daisuke Shimada, Shunsaku Takayanagi, Masako Ikemura, Daisuke Komura, Hiroto Katoh, Jun Mitsui, Shinichi Morishita, Tetsuo Ushiku, Shumpei Ishikawa, Hirofumi Nakatomi, Nobuhito Saito
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-13 (2023)
Abstract Although recent molecular analyses revealed that sporadic meningiomas have various genetic, epigenetic, and transcriptomic profiles, meningioma in patients with neurofibromatosis type 2 (NF2) have not been fully elucidated. This study invest
Externí odkaz:
https://doaj.org/article/36132233814845119abf3aa8a2f37537
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:
Yu Teranishi, Satoru Miyawaki, Hirofumi Nakatomi, Kenta Ohara, Hiroki Hongo, Shogo Dofuku, Atsushi Okano, Shunsaku Takayanagi, Takahiro Ota, Jun Yoshimura, Wei Qu, Jun Mitsui, Shinichi Morishita, Shoji Tsuji, Nobuhito Saito
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Regardless of treatment, the clinical progression of neurofibromatosis type 2 (NF2), particularly in terms of hearing, swallowing, and gait, tend to worsen throughout the patients’ lives. We performed a retrospective analysis of functional
Externí odkaz:
https://doaj.org/article/b4cd5d8b55d44e8caec8a34f5cf339e3
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:
Yu Teranishi, Atsushi Okano, Satoru Miyawaki, Kenta Ohara, Daiichiro Ishigami, Hiroki Hongo, Shogo Dofuku, Hirokazu Takami, Jun Mitsui, Masako Ikemura, Daisuke Komura, Hiroto Katoh, Tetsuo Ushiku, Shumpei Ishikawa, Masahiro Shin, Hirofumi Nakatomi, Nobuhito Saito
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-13 (2022)
Abstract NF2 alteration is the most commonly–found genetic abnormality in meningiomas and is known to initiate events for aggressive-type meningiomas. Whereas the prognosis of meningiomas differs depending on their epigenomic/transcriptomic profile
Externí odkaz:
https://doaj.org/article/bb6f62815c43428d8af3c59f40e666f2
Autor:
Daiichiro Ishigami, Satoru Miyawaki, Hirofumi Nakatomi, Shunsaku Takayanagi, Yu Teranishi, Kenta Ohara, Hiroki Hongo, Shogo Dofuku, Taichi Kin, Hiroyuki Abe, Jun Mitsui, Daisuke Komura, Hiroto Katoh, Shumpei Ishikawa, Nobuhito Saito
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background Schwannomas are neoplasms that typically arise from the myelin sheath of peripheral nerves and rarely originate within the brain parenchyma. Some case reports present schwannomas arising from the brainstem, but regrowth of the tum
Externí odkaz:
https://doaj.org/article/446c385dac9a43cba98d529b3be0dd7d
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
Autor:
Atsushi Okano, Satoru Miyawaki, Hiroki Hongo, Shogo Dofuku, Yu Teranishi, Jun Mitsui, Michihiro Tanaka, Masahiro Shin, Hirofumi Nakatomi, Nobuhito Saito
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Certain driver mutations and pathological diagnoses are associated with the anatomical site of meningioma, based on which the meninges have different embryological origins. We hypothesized that mutations and pathological diagnoses of meningi
Externí odkaz:
https://doaj.org/article/6d08dea3cead4bc3a23b0e845fdf8159