宮本亮介 (Ryosuke Miyamoto) - 論文

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC medical genetics 21(1) 68 - 68 2020年3月31日査読有り

Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.

Yukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, Takashi Kurashige, Kodai Kume, Noriyoshi Mizuno, Yuhei Kanaya, Yui Tada, Ryosuke Ohsawa, Kazunori Yokota, Nobuyuki Shimozawa, Hirofumi Maruyama, Hideshi Kawakami

Neurology. Genetics 6(1) e396 2020年2月査読有り

Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report

Koji Fujita, Tomoyasu Matsubara, Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Keiko Maruyama Saladini, Toshitaka Kawarai, Hiroyuki Nodera, Fukashi Udaka, Kodai Kume, Hiroyuki Morino, Hideshi Kawakami, Masato Hasegawa, Ryuji Kaji, Shigeo Murayama, Yuishin Izumi

BMC Neurology 19(1) 168 2019年12月査読有り

Kawarai T, Yamazaki H, Miyamoto R, Takamatsu N, Mori A, Osaki Y, Orlacchio A, Nodera H, Hashiguchi A, Higuchi Y, Yoshimura A, Takashima H, Kaji R

Neuromuscular disorders : NMD 29(6) 422 - 426 2019年6月査読有り

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

Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis.

Yuishin Izumi, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Takashi Kurashige, Yoshimitsu Shimatani, Ryuji Kaji, Hideshi Kawakami

Geriatrics & gerontology international 18(10) 1519 - 1520 2018年10月査読有り

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

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 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

Distinct Incidence of Takotsubo Syndrome Between Amyotrophic Lateral Sclerosis and Synucleinopathies: A Cohort Study.

Izumi Y, Miyamoto R, Fujita K, Yamamoto Y, Yamada H, Matsubara T, Unai Y, Tsukamoto A, Takamatsu N, Nodera H, Hayashi S, Oda M, Mori A, Nishida Y, Watanabe S, Ogawa H, Uehara H, Murayama S, Sata M, Kaji R

Frontiers in neurology 9 1099 2018年査読有り

ADCK3変異によるataxia with oculomotor apraxia(AOA)の1例

土師正太郎, 宮本亮介, 瓦井俊孝, 山崎博輝, 西野一三, 和泉唯信, 梶龍兒

パーキンソン病・運動障害疾患コングレスプログラム・抄録集 11回 101 - 101 2017年10月査読有り

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

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月査読有り

Clinical Outcome of Arthroscopic Remplissage as Augmentation During Arthroscopic Bankart Repair for Recurrent Anterior Shoulder Instability.

Miyamoto R, Yamamoto A, Shitara H, Ichinose T, Shimoyama D, Sasaki T, Hamano N, Kobayashi T, Osawa T, Takagishi K

The open orthopaedics journal 11 1268 - 1276 2017年査読有り

Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease

Koji Fujita, Yusuke Osaki, Ryosuke Miyamoto, Yoshimitsu Shimatani, Takashi Abe, Hiroyuki Sumikura, Shigeo Murayama, Yuishin Izumi, Ryuji Kaji

Neurology: Clinical Practice 7(6) e39 - e42 2017年査読有り

ジストニアに対する脳深部刺激療法:淡蒼球刺激と視床刺激の併用

牟礼英生, 森垣龍馬, 大北真哉, 宮本亮介, 梶龍兒, 永廣信治, 後藤惠

機能的脳神経外科 Vol.55 80 - 86 2016年12月26日査読有り

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

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 - NI_142 2016年11月査読有り

宮本亮介

論文

メニュー

共著者の一覧