Accuracy of a machine learning method based on structural and locational information from AlphaFold2 for predicting the pathogenicity of TARDBP and FUS gene variants in ALS

por Hatano, Yuya, Ishihara, Tomohiko, Onodera, Osamu
Publicado 2023

Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis

por Hatano, Yuya, Ishihara, Tomohiko, Hirokawa, Sachiko, Onodera, Osamu
Publicado 2023

Dentatorubropallidoluysian Atrophy with Prominent Autonomic Dysfunction

por Shioya, Ayako, Takuma, Hiroshi, Ohkoshi, Norio, Hirano, Kuniyoshi, Ishihara, Tomohiko, Ishii, Kazuhiro, Tamaoka, Akira
Publicado 2022

Inappropriate interpretation of non‐pathogenic HTRA1 variant as pathogenic

por Uemura, Masahiro, Kitahara, Sho, Kato, Taisuke, Nozaki, Hiroaki, Ando, Shoichiro, Ishihara, Tomohiko, Onodera, Osamu
Publicado 2023

Varicella-zoster virus encephalitis localized to the bilateral medial temporal lobes

por Yajima, Ryuji, Utsumi, Kota, Ishihara, Tomohiko, Kanazawa, Masato, Okamoto, Kouichirou, Kawachi, Izumi, Nishizawa, Masatoyo
Publicado 2015

Robustness and Vulnerability of the Autoregulatory System That Maintains Nuclear TDP-43 Levels: A Trade-off Hypothesis for ALS Pathology Based on in Silico Data

por Sugai, Akihiro, Kato, Taisuke, Koyama, Akihide, Koike, Yuka, Kasahara, Sou, Konno, Takuya, Ishihara, Tomohiko, Onodera, Osamu
Publicado 2018

Folic acid inhibits 5‐methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases

por Akiyama, Tomoyuki, Kuki, Ichiro, Kim, Kiyohiro, Yamamoto, Naohiro, Yamada, Yumi, Igarashi, Kazuya, Ishihara, Tomohiko, Hatano, Yuya, Kobayashi, Katsuhiro
Publicado 2022

A patient clinically diagnosed as multiple system atrophy harboring LRRK2 p.G2019S

por Ando, Shoichiro, Konno, Takuya, Ishihara, Tomohiko, Hayashi, Hideki, Saito, Natsumi, Nishioka, Kenya, Hattori, Nobutaka, Wszolek, Zbigniew K., Onodera, Osamu
Publicado 2019

Phosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions

por Mori, Fumiaki, Tada, Mari, Kon, Tomoya, Miki, Yasuo, Tanji, Kunikazu, Kurotaki, Hidekachi, Tomiyama, Masahiko, Ishihara, Tomohiko, Onodera, Osamu, Kakita, Akiyoshi, Wakabayashi, Koichi
Publicado 2019

Age-related demethylation of the TDP-43 autoregulatory region in the human motor cortex

por Koike, Yuka, Sugai, Akihiro, Hara, Norikazu, Ito, Junko, Yokoseki, Akio, Ishihara, Tomohiko, Yamagishi, Takuma, Tsuboguchi, Shintaro, Tada, Mari, Ikeuchi, Takeshi, Kakita, Akiyoshi, Onodera, Osamu
Publicado 2021

Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43

por Koyama, Akihide, Sugai, Akihiro, Kato, Taisuke, Ishihara, Tomohiko, Shiga, Atsushi, Toyoshima, Yasuko, Koyama, Misaki, Konno, Takuya, Hirokawa, Sachiko, Yokoseki, Akio, Nishizawa, Masatoyo, Kakita, Akiyoshi, Takahashi, Hitoshi, Onodera, Osamu
Publicado 2016

Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS

por Shiga, Atsushi, Ishihara, Tomohiko, Miyashita, Akinori, Kuwabara, Misaki, Kato, Taisuke, Watanabe, Norihiro, Yamahira, Akie, Kondo, Chigusa, Yokoseki, Akio, Takahashi, Masuhiro, Kuwano, Ryozo, Kakita, Akiyoshi, Nishizawa, Masatoyo, Takahashi, Hitoshi, Onodera, Osamu
Publicado 2012

A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features

por Sainouchi, Makoto, Hatano, Yuya, Tada, Mari, Ishihara, Tomohiko, Ando, Shoichiro, Kato, Taisuke, Tokunaga, Jun, Ito, Gaku, Miyahara, Hiroaki, Toyoshima, Yasuko, Yokoseki, Akio, Ozawa, Tetsutaro, Akazawa, Kohei, Onodera, Osamu, Kakita, Akiyoshi
Publicado 2021

Correction to: A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features

por Sainouchi, Makoto, Hatano, Yuya, Tada, Mari, Ishihara, Tomohiko, Ando, Shoichiro, Kato, Taisuke, Tokunaga, Jun, Ito, Gaku, Miyahara, Hiroaki, Toyoshima, Yasuko, Yokoseki, Akio, Ozawa, Tetsutaro, Akazawa, Kohei, Onodera, Osamu, Kakita, Akiyoshi
Publicado 2021

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease

por Uemura, Masahiro, Hatano, Yuya, Nozaki, Hiroaki, Ando, Shoichiro, Kondo, Hajime, Hanazono, Akira, Iwanaga, Akira, Murota, Hiroyuki, Osakada, Yosuke, Osaki, Masato, Kanazawa, Masato, Kanai, Mitsuyasu, Shibata, Yoko, Saika, Reiko, Miyatake, Tadashi, Aizawa, Hitoshi, Ikeuchi, Takeshi, Tomimoto, Hidekazu, Mizuta, Ikuko, Mizuno, Toshiki, Ishihara, Tomohiko, Onodera, Osamu
Publicado 2023

The Japanese Early-Stage Trial of High-Dose Methylcobalamin for Amyotrophic Lateral Sclerosis (JETALS): Protocol for a Randomized Controlled Trial

por Oki, Ryosuke, Izumi, Yuishin, Nodera, Hiroyuki, Sato, Yasutaka, Nokihara, Hiroshi, Kanai, Kazuaki, Sonoo, Masahiro, Urushitani, Makoto, Nishinaka, Kazuto, Atsuta, Naoki, Kohara, Nobuo, Shimizu, Toshio, Kikuchi, Hitoshi, Oda, Masaya, Ikeda, Ken, Nagai, Makiko, Komai, Kiyonobu, Kojima, Yasuhiro, Kuzume, Daisuke, Isose, Sagiri, Shimohama, Shun, Abe, Koji, Ito, Hidefumi, Noda, Kazuyuki, Ishihara, Tomohiko, Morita, Mitsuya, Shimohata, Takayoshi, Teramukai, Satoshi, Kagimura, Tatsuo, Noma, Kensuke, Yanagawa, Hiroaki, Kuwabara, Satoshi, Kaji, Ryuji
Publicado 2018

High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial

por Mitsui, Jun, Matsukawa, Takashi, Uemura, Yukari, Kawahara, Takuya, Chikada, Ayaka, Porto, Kristine Joyce L., Naruse, Hiroya, Tanaka, Masaki, Ishiura, Hiroyuki, Toda, Tatsushi, Kuzuyama, Haruko, Hirano, Mari, Wada, Ikue, Ga, Toshio, Moritoyo, Takashi, Takahashi, Yuji, Mizusawa, Hidehiro, Ishikawa, Kinya, Yokota, Takanori, Kuwabara, Satoshi, Sawamoto, Nobukatsu, Takahashi, Ryosuke, Abe, Koji, Ishihara, Tomohiko, Onodera, Osamu, Matsuse, Dai, Yamasaki, Ryo, Kira, Jun-Ichi, Katsuno, Masahisa, Hanajima, Ritsuko, Ogata, Katsuhisa, Takashima, Hiroshi, Matsushima, Masaaki, Yabe, Ichiro, Sasaki, Hidenao, Tsuji, Shoji
Publicado 2023

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

por Nakamura, Ryoichi, Misawa, Kazuharu, Tohnai, Genki, Nakatochi, Masahiro, Furuhashi, Sho, Atsuta, Naoki, Hayashi, Naoki, Yokoi, Daichi, Watanabe, Hazuki, Watanabe, Hirohisa, Katsuno, Masahisa, Izumi, Yuishin, Kanai, Kazuaki, Hattori, Nobutaka, Morita, Mitsuya, Taniguchi, Akira, Kano, Osamu, Oda, Masaya, Shibuya, Kazumoto, Kuwabara, Satoshi, Suzuki, Naoki, Aoki, Masashi, Ohta, Yasuyuki, Yamashita, Toru, Abe, Koji, Hashimoto, Rina, Aiba, Ikuko, Okamoto, Koichi, Mizoguchi, Kouichi, Hasegawa, Kazuko, Okada, Yohei, Ishihara, Tomohiko, Onodera, Osamu, Nakashima, Kenji, Kaji, Ryuji, Kamatani, Yoichiro, Ikegawa, Shiro, Momozawa, Yukihide, Kubo, Michiaki, Ishida, Noriko, Minegishi, Naoko, Nagasaki, Masao, Sobue, Gen
Publicado 2020