Kawarai Toshitaka - Papers

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 Mar 28, 2019 Peer-reviewed

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 Feb 22, 2019 Peer-reviewed

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 Jul, 2018 Peer-reviewed

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 Jan 1, 2018 Peer-reviewed

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 Jan 1, 2018 Peer-reviewed

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 Jan 1, 2018 Peer-reviewed

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 Sep 15, 2017 Peer-reviewed

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 Jul 1, 2017 Peer-reviewed

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) Feb, 2017 Peer-reviewed

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 Jan 15, 2017 Peer-reviewed

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 Jan 1, 2017 Peer-reviewed

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 Peer-reviewed

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 Nov 1, 2016 Peer-reviewed

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 Oct 1, 2016 Peer-reviewed

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

Toshitaka Kawarai, Ryosuke Miyamoto, Yoshimitsu Shimatani, Antonio Orlacchio, Ryuji Kaji

JAMA Neurology Vol.73(No.7) 888 - 890 Jul 1, 2016 Peer-reviewed

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 Jun 1, 2016 Peer-reviewed

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 May 15, 2016 Peer-reviewed

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 Feb, 2016 Peer-reviewed

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 Jan 1, 2016 Peer-reviewed

Treatment of Isolated Dystonia with Zolpidem

Yoshimichi Miyazaki, Hidetaka Koizumi, Ryosuke Miyamoto, Toshitaka Kawarai, Ryuji Kaji

Movement Disorders Clinical Practice Dec 18, 2015 Peer-reviewed