Simultaneous detection of reduced and oxidized forms of coenzyme Q10 in human cerebral spinal fluid as a potential marker of oxidative stress

por Nagase, Midori, Yamamoto, Yorihiro, Mitsui, Jun, Tsuji, Shoji
Publicado 2018

Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

por Akahira-Azuma, Moe, Tsurusaki, Yoshinori, Enomoto, Yumi, Mitsui, Jun, Kurosawa, Kenji
Publicado 2018

Copper Deficiency in Wilson's Disease with a Normal Zinc Value

por Ueda, Masayuki, Katsuse, Kazuto, Kakumoto, Toshiyuki, Kobayashi, Satoshi, Ishiura, Hiroyuki, Mitsui, Jun, Toda, Tatsushi
Publicado 2022

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

por Tsurusaki, Yoshinori, Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Mitsui, Jun, Aida, Noriko, Kurosawa, Kenji
Publicado 2017

Symptomatic and Stenotic Developmental Venous Anomaly with Pontine Capillary Telangiectasia: A Case Report with Genetic Considerations

por ISHIGAMI, Daiichiro, KOIZUMI, Satoshi, MIYAWAKI, Satoru, HONGO, Hiroki, TERANISHI, Yu, MITSUI, Jun, SAITO, Nobuhito
Publicado 2022

Systemic CD8(+) T Cell-Mediated Tumoricidal Effects by Intratumoral Treatment of Oncolytic Herpes Simplex Virus with the Agonistic Monoclonal Antibody for Murine Glucocorticoid-Ind...

por Ishihara, Mikiya, Seo, Naohiro, Mitsui, Jun, Muraoka, Daisuke, Tanaka, Maki, Mineno, Junichi, Ikeda, Hiroaki, Shiku, Hiroshi
Publicado 2014

A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient

por Kubota, Akatsuki, Ishiura, Hiroyuki, Mitsui, Jun, Sakuishi, Kaori, Iwata, Atsushi, Yamamoto, Tomotaka, Nishino, Ichizo, Tsuji, Shoji, Shimizu, Jun
Publicado 2017

A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity

por Hama, Yuka, Date, Hidetoshi, Fujimoto, Akiko, Matsui, Ayano, Ishiura, Hiroyuki, Mitsui, Jun, Yamamoto, Toshiyuki, Tsuji, Shoji, Mizusawa, Hidehiro, Takahashi, Yuji
Publicado 2022

Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity

por Hama, Yuka, Date, Hidetoshi, Fujimoto, Akiko, Matsui, Ayano, Ishiura, Hiroyuki, Mitsui, Jun, Yamamoto, Toshiyuki, Tsuji, Shoji, Mizusawa, Hidehiro, Takahashi, Yuji
Publicado 2022

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

por Harigaya, Yasuo, Matsukawa, Takashi, Fujita, Yukio, Mizushima, Kazuyuki, Ishiura, Hiroyuki, Mitsui, Jun, Morishita, Shinichi, Shoji, Mikio, Ikeda, Yoshio, Tsuji, Shoji
Publicado 2017

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia

por Kurihara, Masanori, Ishiura, Hiroyuki, Bannai, Taro, Mitsui, Jun, Yoshimura, Jun, Morishita, Shinichi, Hayashi, Toshihiro, Shimizu, Jun, Toda, Tatsushi, Tsuji, Shoji
Publicado 2019

Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges

por Okano, Atsushi, Miyawaki, Satoru, Hongo, Hiroki, Dofuku, Shogo, Teranishi, Yu, Mitsui, Jun, Tanaka, Michihiro, Shin, Masahiro, Nakatomi, Hirofumi, Saito, Nobuhito
Publicado 2021

Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene

por Yagi, Hiroki, Takiguchi, Hiroshi, Takeda, Norifumi, Inuzuka, Ryo, Taniguchi, Yuki, Porto, Kristine Joyce, Ishiura, Hiroyuki, Mitsui, Jun, Morita, Hiroyuki, Komuro, Issei
Publicado 2022

Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1

por Okuma, Hidehiko, Saito, Fumiaki, Mitsui, Jun, Hara, Yuji, Hatanaka, Yuki, Ikeda, Miki, Shimizu, Teruo, Matsumura, Kiichiro, Shimizu, Jun, Tsuji, Shoji, Sonoo, Masahiro
Publicado 2016

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

por Naruse, Hiroya, Takahashi, Yuji, Ishiura, Hiroyuki, Matsukawa, Takashi, Mitsui, Jun, Ichikawa, Yaeko, Hamada, Masashi, Shimizu, Jun, Goto, Jun, Toda, Tatsushi, Tsuji, Shoji
Publicado 2019

NF2 Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing Meningiomas

por Sakai, Yu, Miyawaki, Satoru, Teranishi, Yu, Okano, Atsushi, Ohara, Kenta, Hongo, Hiroki, Ishigami, Daiichiro, Shimada, Daisuke, Mitsui, Jun, Nakatomi, Hirofumi, Saito, Nobuhito
Publicado 2022

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

por Doi, Koichiro, Monjo, Taku, Hoang, Pham H., Yoshimura, Jun, Yurino, Hideaki, Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Ichikawa, Yaeko, Goto, Jun, Tsuji, Shoji, Morishita, Shinichi
Publicado 2014

The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy

por Nakamoto, Fumiko Kusunoki, Okamoto, Satoshi, Mitsui, Jun, Sone, Takefumi, Ishikawa, Mitsuru, Yamamoto, Yorihiro, Kanegae, Yumi, Nakatake, Yuhki, Imaizumi, Kent, Ishiura, Hiroyuki, Tsuji, Shoji, Okano, Hideyuki
Publicado 2018

Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy

por Togawa, Jumpei, Ohi, Takekazu, Yuan, Jun-Hui, Takashima, Hiroshi, Furuya, Hirokazu, Takechi, Shinji, Fujitake, Junko, Hayashi, Saki, Ishiura, Hiroyuki, Naruse, Hiroya, Mitsui, Jun, Tsuji, Shoji
Publicado 2019

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy

por Yuan, Jun-Hui, Higuchi, Yujiro, Ando, Masahiro, Matsuura, Eiji, Hashiguchi, Akihiro, Yoshimura, Akiko, Nakamura, Tomonori, Sakiyama, Yusuke, Mitsui, Jun, Ishiura, Hiroyuki, Tsuji, Shoji, Takashima, Hiroshi
Publicado 2022