Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Akihiro, Hashiguchi"'
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:
Eiji Matsuura, Satoshi Nozuma, Ayano Shigehisa, Mika Dozono, Tomonori Nakamura, Masakazu Tanaka, Ryuji Kubota, Akihiro Hashiguchi, Hiroshi Takashima
Publikováno v:
BMC Musculoskeletal Disorders, Vol 24, Iss 1, Pp 1-6 (2023)
Abstract Background Sporadic late onset nemaline myopathy (SLONM) is a muscle disorder characterized by the presence of nemaline rods in muscle fibers. SLONM has no known genetic cause but has been associated with monoclonal gammopathy of undetermine
Externí odkaz:
https://doaj.org/article/2ee8ec70d7044e4a8e032fcf931c3e95
Autor:
Satoshi Nozuma, Eiji Matsuura, Yuichi Tashiro, Ryusei Nagata, Masahiro Ando, Yu Hiramatsu, Yujiro Higuchi, Yusuke Sakiyama, Akihiro Hashiguchi, Kumiko Michizono, Keiko Higashi, Toshio Matsuzaki, Daisuke Kodama, Masakazu Tanaka, Yoshihisa Yamano, Takashi Moritoyo, Ryuji Kubota, Hiroshi Takashima
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 2, Pp 237-245 (2023)
Abstract Objective HTLV‐1 infection causes HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP), resulting in loss of motor function. In this Phase 2 trial, we assessed the efficacy and safety of l‐arginine in patients with HAM
Externí odkaz:
https://doaj.org/article/2f465b03ac204e548d2aa22e4626964f
Autor:
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Jun Takei, Mika Takeuchi, Yu Hiramatsu, Fumitaka Shimizu, Masaya Kubota, Akari Takeshima, Takehiro Ueda, Kishin Koh, Utako Nagaoka, Takashi Tokashiki, Setsu Sawai, Yusuke Sakiyama, Akihiro Hashiguchi, Ryota Sato, Takashi Kanda, Yuji Okamoto, Hiroshi Takashima
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 902-911 (2022)
Abstract Background Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early‐onset peripheral neuropathy associated with SLC12A6 heterozygous variants were repo
Externí odkaz:
https://doaj.org/article/b5bdd524c95c49f1b27ac303aeb316da
Autor:
Ruoyi Ishikawa, Masahiro Nakamori, Megumi Takenaka, Shiro Aoki, Yu Yamazaki, Akihiro Hashiguchi, Hiroshi Takashima, Hirofumi Maruyama
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and periphera
Externí odkaz:
https://doaj.org/article/4d4677a925ca4143a5a13d95158b9db9
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:
Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura, Tomonori Nakamura, Yu Hiramatsu, Yusuke Sakiyama, Hiroshi Takashima
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionGenetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan.MethodsWe obtained a Japanese nationwide case series of 119
Externí odkaz:
https://doaj.org/article/2dbe35e0e1bb431d8490b085573ce8b4
Autor:
Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt *, *, Roberts, Mark *, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen †, Kishnani, Priya S †
Publikováno v:
In The Lancet Neurology December 2021 20(12):1027-1037
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:
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