瓦井俊孝 (Kawarai Toshitaka) - 論文

Toshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Takamatsu, Atsuko Mori, Yusuke Osaki, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Akiko Yoshimura, Hiroshi Takashima, Ryuji Kaji

Neuromuscular Disorders 2019年3月28日査読有り

is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons.

Fumiko Nakazeki, Itaru Tsuge, Takahiro Horie, Keiko Imamura, Kayoko Tsukita, Akitsu Hotta, Osamu Baba, Yasuhide Kuwabara, Tomohiro Nishino, Tetsushi Nakao, Masataka Nishiga, Hitoo Nishi, Yasuhiro Nakashima, Yuya Ide, Satoshi Koyama, Masahiro Kimura, Shuhei Tsuji, Motoko Naitoh, Shigehiko Suzuki, Yuishin Izumi, Toshitaka Kawarai, Ryuji Kaji, Takeshi Kimura, Haruhisa Inoue, Koh Ono

Clinical Science Vol.133(No.4) 583 - 595 2019年2月22日査読有り

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Toshitaka Kawarai, Ryosuke Miyamoto, Eiji Nakagawa, Reiko Koichihara, Takashi Sakamoto, Hideo Mure, Ryoma Morigaki, Hidetaka Koizumi, Ryosuke Oki, Celeste Montecchiani, Carlo Caltagirone, Antonio Orlacchio, Ayako Hattori, Hideaki Mashimo, Yuishin Izumi, Takahiro Mezaki, Satoko Kumada, Makoto Taniguchi, Fusako Yokochi, Shinji Saitoh, Satoshi Goto, Ryuji Kaji

Parkinsonism & related disorders 52 55 - 61 2018年7月査読有り

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

T. Konno, K. Yoshida, I. Mizuta, T. Mizuno, T. Kawarai, M. Tada, H. Nozaki, S. I. Ikeda, O. Onodera, Z. K. Wszolek, T. Ikeuchi

European Journal of Neurology 25(1) 142 - 147 2018年1月1日査読有り

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability

Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Rie Kawakita, Yuki Tojima, Celeste Montecchiani, Laura D'Onofrio, Carlo Caltagirone, Antonio Orlacchio, Ryuji Kaji

Parkinsonism and Related Disorders 46 79 - 83 2018年1月1日査読有り

A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course

Kozue Kuwabara, Toshitaka Kawarai, Yasushi Ishida, Ryosuke Miyamoto, Ryosuke Oki, Antonio Orlacchio, Yoshiko Nomura, Mitsumasa Fukuda, Eiichi Ishii, Haruo Shintaku, Ryuji Kaji

Parkinsonism and Related Disorders 46 87 - 89 2018年1月1日査読有り

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

Toshitaka Kawarai, Celeste Montecchiani, Ryosuke Miyamoto, Fabrizio Gaudiello, Carlo Caltagirone, Yuishin Izumi, Ryuji Kaji, Antonio Orlacchio

Journal of the Neurological Sciences 380 92 - 97 2017年9月15日査読有り

Clinicopathological phenotype and genetics of X-linked dystonia-parkinsonism (XDP; DYT3; Lubag)

Toshitaka Kawarai, Ryoma Morigaki, Ryuji Kaji, Satoshi Goto

Brain Sciences 7(7) 72 - 72 2017年7月1日査読有り

Proteasome impairment in neural cells derived from HMSN-P patient iPSCs

Nagahisa Murakami, Keiko Imamura, Yuishin Izumi, Naohiro Egawa, Kayoko Tsukita, Takako Enami, Takuya Yamamoto, Toshitaka Kawarai, Ryuji Kaji, Haruhisa Inoue

MOLECULAR BRAIN 10(No.1) 2017年2月査読有り

Trans-crocetin improves amyloid-β degradation in monocytes from Alzheimer's Disease patients

Roberto Tiribuzi, Lucia Crispoltoni, Valerio Chiurchiù, Antonella Casella, Celeste Montecchiani, Alberto Marco Del Pino, Mauro Maccarrone, Carlo Alberto Palmerini, Carlo Caltagirone, Toshitaka Kawarai, Aldo Orlacchio, Antonio Orlacchio

Journal of the Neurological Sciences 372 408 - 412 2017年1月15日査読有り

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation

T. Konno, K. Yoshida, T. Mizuno, T. Kawarai, M. Tada, H. Nozaki, S. I. Ikeda, M. Nishizawa, O. Onodera, Z. K. Wszolek, T. Ikeuchi

European Journal of Neurology 24(1) 37 - 45 2017年1月1日査読有り

MR spectroscopy in patients with hereditary diffuse leukoencephalopathy with spheroids and asymptomatic carriers of colony-stimulating factor 1 receptor mutation

Takashi Abe, Toshitaka Kawarai, Koji Fujita, Wataru Sako, Yuka Terasawa, Tsuyoshi Matsuda, Waka Sakai, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yuishin Izumi, Ryuji Kaji, Masafumi Harada

Magnetic Resonance in Medical Sciences 16(4) 297 - 303 2017年査読有り

MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2

Toshitaka Kawarai, Kanto Yamasaki, Atsuko Mori, Naoko Takamatsu, Yusuke Osaki, Chimeglkham Banzrai, Ryosuke Miyamoto, Ryosuke Oki, Lucia Pedace, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Hiroshi Takashima, Yoshihiko Nishida, Yuishin Izumi, Ryuji Kaji

Journal of Neurology, Neurosurgery and Psychiatry 87(11) 1263 - 1265 2016年11月1日査読有り

Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion

Yoshimitsu Shimatani, Yuta Nakano, Naoko Tsuyama, Shigeo Murayama, Ryosuke Oki, Ryosuke Miyamoto, Nagahisa Murakami, Koji Fujita, Syunsuke Watanabe, Hisanori Uehara, Takashi Abe, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi, Ryuji Kaji

Neuropathology 36(5) 456 - 463 2016年10月1日査読有り

Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16.

瓦井俊孝, 宮本亮介, 島谷佳光, Antonio Orlacchio, 梶龍兒

JAMA Neurology Vol.73(No.7) 888 - 890 2016年7月1日査読有り

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability

Toshitaka Kawarai, Atsushi Tajima, Yukiko Kuroda, Naoki Saji, Antonio Orlacchio, Hideo Terasawa, Hirotaka Shimizu, Yasushi Kita, Yuishin Izumi, Takao Mitsui, Issei Imoto, Ryuji Kaji

Journal of Neurology, Neurosurgery and Psychiatry 87(6) 656 - 662 2016年6月1日査読有り

Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis

Seiji Kaji, Toshitaka Kawarai, Ryosuke Miyamoto, Hiroyuki Nodera, Lucia Pedace, Antonio Orlacchio, Yuishin Izumi, Ryosuke Takahashi, Ryuji Kaji

Journal of the Neurological Sciences 364 45 - 49 2016年5月15日査読有り

Impaired Axonal Na+ Current by Hindlimb Unloading: Implication for Disuse Neuromuscular Atrophy

Chimeglkham Banzrai, Hiroyuki Nodera, Toshitaka Kawarai, Saki Higashi, Ryo Okada, Atsuko Mori, Yoshimitsu Shimatani, Yusuke Osaki, Ryuji Kaji

FRONTIERS IN PHYSIOLOGY 7(No.364) 45 - 49 2016年2月査読有り

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St. St. George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Brain 139(1) 73 - 85 2016年1月1日査読有り

Treatment of Isolated Dystonia with Zolpidem

宮? 由道, 小泉英貴, 宮本亮介, 瓦井俊孝, 梶龍兒

Movement Disorders Clinical Practice 2015年12月18日査読有り