Prospects and status of the dosimetry system for atomic bomb survivor cohort study conducted at Research Institute for Radiation Biology and Medicine of Hiroshima University

por Hirota, Seiko, Yasuda, Hiroshi, Kawakami, Hideshi, Yoshinaga, Shinji
Publicado 2021

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

por Morino, Hiroyuki, Miyamoto, Ryosuke, Ohnishi, Shizuo, Maruyama, Hirofumi, Kawakami, Hideshi
Publicado 2014

Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series

por Ueno, Hiroki, Kobatake, Keitaro, Matsumoto, Masayasu, Morino, Hiroyuki, Maruyama, Hirofumi, Kawakami, Hideshi
Publicado 2011

Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early‐onset Parkinson's disease

por Shi, Yingying, Kawakami, Hideshi, Zang, Weizhou, Li, Gang, Zhang, Jiewen, Xu, Changshui
Publicado 2017

Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease

por Xu, Changshui, Xu, Jun, Zhang, Yanmin, Ma, Jianjun, Kawakami, Hideshi, Maruyama, Hirofumi, Kamada, Masaki
Publicado 2010

Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Ca(V)3.1 caused by a mutation responsible for spinocerebellar ataxia

por Hara, Naoyuki, Morino, Hiroyuki, Matsuda, Yukiko, Satoh, Kenichi, Hashimoto, Kouichi, Maruyama, Hirofumi, Kawakami, Hideshi
Publicado 2020

Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data

por Tonda, Tetsuji, Satoh, Kenichi, Otani, Keiko, Sato, Yuya, Maruyama, Hirofumi, Kawakami, Hideshi, Tashiro, Satoshi, Hoshi, Masaharu, Ohtaki, Megu
Publicado 2012

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

por Naito, Hiroyuki, Takahashi, Tetsuya, Kamada, Masaki, Morino, Hiroyuki, Yoshino, Hiroyo, Hattori, Nobutaka, Maruyama, Hirofumi, Kawakami, Hideshi, Matsumoto, Masayasu
Publicado 2017

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

por Kume, Kodai, Morino, Hiroyuki, Miyamoto, Ryosuke, Matsuda, Yukiko, Ohsawa, Ryosuke, Kanaya, Yuhei, Tada, Yui, Kurashige, Takashi, Kawakami, Hideshi
Publicado 2020

Kv11 (ether‐à‐go‐go‐related gene) voltage‐dependent K(+) channels promote resonance and oscillation of subthreshold membrane potentials

por Matsuoka, Toshinori, Yamasaki, Miwako, Abe, Manabu, Matsuda, Yukiko, Morino, Hiroyuki, Kawakami, Hideshi, Sakimura, Kenji, Watanabe, Masahiko, Hashimoto, Kouichi
Publicado 2020

TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis

por Kurashige, Takashi, Morino, Hiroyuki, Murao, Tomomi, Izumi, Yuishin, Sugiura, Tomohito, Kuraoka, Kazuya, Kawakami, Hideshi, Torii, Tsuyoshi, Maruyama, Hirofumi
Publicado 2022

Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients

por Hagiwara, Koichi, Morino, Hiroyuki, Shiihara, Jun, Tanaka, Tomoaki, Miyazawa, Hitoshi, Suzuki, Tomoko, Kohda, Masakazu, Okazaki, Yasushi, Seyama, Kuniaki, Kawakami, Hideshi
Publicado 2011

A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

por Huqun*, Fukuyama, Shun-ichiro, Morino, Hiroyuki, Miyazawa, Hiroshi, Tanaka, Tomoaki, Suzuki, Tomoko, Kohda, Masakazu, Kawakami, Hideshi, Okazaki, Yasushi, Seyama, Kuniaki, Hagiwara, Koichi
Publicado 2010

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

por Morino, Hiroyuki, Matsuda, Yukiko, Muguruma, Keiko, Miyamoto, Ryosuke, Ohsawa, Ryosuke, Ohtake, Toshiyuki, Otobe, Reiko, Watanabe, Masahiko, Maruyama, Hirofumi, Hashimoto, Kouichi, Kawakami, Hideshi
Publicado 2015

FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report

por Toko, Megumi, Ohshita, Tomohiko, Kurashige, Takashi, Morino, Hiroyuki, Kume, Kodai, Yamashita, Hiroshi, Sobue, Gen, Iwasaki, Yasushi, Sone, Jun, Kawakami, Hideshi, Maruyama, Hirofumi
Publicado 2021

Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report

por Toko, Megumi, Ohshita, Tomohiko, Kurashige, Takashi, Morino, Hiroyuki, Kume, Kodai, Yamashita, Hiroshi, Sobue, Gen, Iwasaki, Yasushi, Sone, Jun, Kawakami, Hideshi, Maruyama, Hirofumi
Publicado 2021

Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia

por Matsuda, Yukiko, Morino, Hiroyuki, Miyamoto, Ryosuke, Kurashige, Takashi, Kume, Kodai, Mizuno, Noriyoshi, Kanaya, Yuhei, Tada, Yui, Ohsawa, Ryosuke, Yokota, Kazunori, Shimozawa, Nobuyuki, Maruyama, Hirofumi, Kawakami, Hideshi
Publicado 2020

Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells

por Imamura, Keiko, Yada, Yuichiro, Izumi, Yuishin, Morita, Mitsuya, Kawata, Akihiro, Arisato, Takayo, Nagahashi, Ayako, Enami, Takako, Tsukita, Kayoko, Kawakami, Hideshi, Nakagawa, Masanori, Takahashi, Ryosuke, Inoue, Haruhisa
Publicado 2021

Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection

por Fukushi, Masaya, Ohsawa, Ryosuke, Okinaka, Yasushi, Oikawa, Daisuke, Kiyono, Tohru, Moriwaki, Masaya, Irie, Takashi, Oda, Kosuke, Kamei, Yasuhiro, Tokunaga, Fuminori, Sotomaru, Yusuke, Maruyama, Hirofumi, Kawakami, Hideshi, Sakaguchi, Takemasa
Publicado 2023

‘Raisin bread sign’ feature of pontine autosomal dominant microangiopathy and leukoencephalopathy

por Kikumoto, Mai, Kurashige, Takashi, Ohshita, Tomohiko, Kume, Kodai, Kikumoto, Osamu, Nezu, Tomohisa, Aoki, Shiro, Ochi, Kazuhide, Morino, Hiroyuki, Nomura, Eiichi, Yamashita, Hiroshi, Kaneko, Mayumi, Maruyama, Hirofumi, Kawakami, Hideshi
Publicado 2023