Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Fumikazu Kojima"'
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:
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Fumikazu Kojima, Yuki Yamanishi, Yasuhiro Aso, Kotaro Izumi, Minako Imada, Yoshimitsu Maki, Hiroto Nakagawa, Takahiro Hobara, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Hiroshi Takashima
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 1, Pp 96-104 (2024)
Abstract Background and Objectives The GAA repeat expansion within the fibroblast growth factor 14 (FGF14) gene has been found to be associated with late‐onset cerebellar ataxia. This study aimed to investigate the genetic causes of cerebellar atax
Externí odkaz:
https://doaj.org/article/07e19a432dc448e4bafe2212099ce614
Autor:
Masahiro Ando, Yujiro Higuchi, Junhui H. Yuan, Akiko Yoshimura, Shuntaro Higashi, Mika Takeuchi, Takahiro Hobara, Fumikazu Kojima, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Masahiro Nagai, Hiroshi Takashima
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
The recessive intronic pentanucleotide repeat AAGGG expansion of replication factor complex subunit 1 (RFC1) is associated with cerebellar ataxia, sensory neuropathy, and vestibular areflexia syndrome. And the clinical spectrum has been continuously
Externí odkaz:
https://doaj.org/article/9c12a514189a414aa34891f2c6ce23a7
Autor:
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi, Takahiro Hobara, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Publikováno v:
Biomedicines, Vol 10, Iss 7, p 1546 (2022)
Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of
Externí odkaz:
https://doaj.org/article/977625bf5f7d43eb8a38ee79775a3b44
Autor:
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Mika Dozono, Takahiro Hobara, Fumikazu Kojima, Yutaka Noguchi, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Jun Sone, Hiroshi Takashima
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry; Aug2023, Vol. 94 Issue 8, p622-630, 9p
Publikováno v:
Rinsho shinkeigaku = Clinical neurology. 62(4)
We report a patient with myelin oligodendrocyte glycoprotein (MOG) antibody positivity who manifested myelitis with right optic perineuritis (OPN) 6 years following left OPN. A 45-year-old man treated 6 years previously for left OPN developed ascendi
Autor:
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Mika Dozono, Takahiro Hobara, Fumikazu Kojima, Yutaka Noguchi, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Jun Sone, Hiroshi Takashima
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. :jnnp-2022
BackgroundNOTCH2NLCGGC repeat expansions have been associated with various neurogenerative disorders, including neuronal intranuclear inclusion disease and inherited peripheral neuropathies (IPNs). However, only a fewNOTCH2NLC-related disease studies
Autor:
Kazuyuki Noda, Yuanzhe Li, Takanobu Takei, Hiroyo Yoshino, Hisamasa Imai, Ryoichi Kurisaki, T. Yamashita, Masahiko Tomiyama, Takao Hashimoto, Shigeru Matsuzaki, Fumikazu Kojima, Yoshio Tsuboi, Fusako Yokochi, Naohisa Ueda, Kenya Nishioka, Manabu Funayama, Katsuo Kimura, Kenichi Kashihara, Yuichiro, Morikazu Shibasaki, Shinji Ohara, Shinsuke Fujioka, Nobuya Fujita, Nobuhiro Dougu, Tomoyo Shimada, Hitoshi Yamada, Fumiaki Tanaka, Chizu Wada, Kensuke Daida, Yujiro Higuchi, Yuji Nakatsuji, Yoshinori Hirata, Takenori Uozumi, Nobutaka Hattori, Kazuma Sugie, Nobuyuki Eura, Yasushi Shimo, Chieko Suzuki, Ryoichi Okiyama
Publikováno v:
Neurobiology of aging. 97
This study aimed to evaluate genotype-phenotype correlations of Parkinson’s disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 patients with PD, including 78 PD patients reported previously, and 336 in