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31 results for Morino,+Hiroyuki

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The first Japanese case of primary familial brain calcification caused by an MYORG variant
Author / Creator:Kume, Kodai ; Takata, Tadayuki ; Morino, Hiroyuki ; Matsuda, Yukiko ; Ohsawa, Ryosuke ; Tada, Yui ; Kurashige, Takashi ; Kawakami, Hideshi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-10, Vol.65 (10), p.917-920
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Mutations of optineurin in amyotrophic lateral sclerosis
Author / Creator:Maruyama, Hirofumi ; Morino, Hiroyuki ; Ito, Hidefumi ; Izumi, Yuishin ; Kato, Hidemasa ; Watanabe, Yasuhito ; Kinoshita, Yoshimi ; Kamada, Masaki ; Nodera, Hiroyuki ; Suzuki, Hidenori ; Komure, Osamu ; Matsuura, Shinya ; Kobatake, Keitaro ; Morimoto, Nobutoshi ; Abe, Koji ; Suzuki, Naoki ; Aoki, Masashi ; Kawata, Akihiro ; Hirai, Takeshi ; Kato, Takeo ; Ogasawara, Kazumasa ; Hirano, Asao ; Takumi, Toru ; Kusaka, Hirofumi ; Hagiwara, Koichi ; Kaji, Ryuji ; Kawakami, Hideshi
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2010-05, Vol.465 (7295), p.223-226
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Th17 and effector CD8 T cells relate to disease progression in amyotrophic lateral sclerosis: a case control study
Author / Creator:Itou, Tatsuo ; Fujita, Koji ; Okuzono, Yuumi ; Warude, Dnyaneshwar ; Miyakawa, Shuuichi ; Mihara, Yoshimi ; Matsui, Naoko ; Morino, Hiroyuki ; Kikukawa, Yusuke ; Izumi, Yuishin
Publisher:England: BioMed Central Ltd
Journal title:Journal of neuroinflammation, 2024-12, Vol.21 (1), p.331-12, Article 331
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Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia
Author / Creator:Tada, Yui ; Kume, Kodai ; Matsuda, Yukiko ; Kurashige, Takashi ; Kanaya, Yuhei ; Ohsawa, Ryosuke ; Morino, Hiroyuki ; Tabu, Hayato ; Kaneko, Satoshi ; Suenaga, Toshihiko ; Kakizuka, Akira ; Kawakami, Hideshi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-04, Vol.65 (4), p.363-369
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Analysis of genetic risk factors in Japanese patients with Parkinson’s disease
Author / Creator:Kanaya, Yuhei ; Kume, Kodai ; Morino, Hiroyuki ; Ohsawa, Ryosuke ; Kurashige, Takashi ; Kamada, Masaki ; Torii, Tsuyoshi ; Izumi, Yuishin ; Maruyama, Hirofumi ; Kawakami, Hideshi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-10, Vol.66 (10), p.957-964
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Aggressive periodontitis and NOD2 variants
Author / Creator:Mizuno, Noriyoshi ; Kume, Kodai ; Nagatani, Yukiko ; Matsuda, Shinji ; Iwata, Tomoyuki ; Ouhara, Kazuhisa ; Kajiya, Mikihito ; Takeda, Katsuhiro ; Matsuda, Yukiko ; Tada, Yui ; Ohsawa, Ryosuke ; Morino, Hiroyuki ; Mihara, Keichiro ; Fujita, Tsuyoshi ; Kawaguchi, Hiroyuki ; Shiba, Hideki ; Kawakami, Hideshi ; Kurihara, Hidemi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-10, Vol.65 (10), p.841-846
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The long-term effects of heated tobacco product exposure on the central nervous system in a mouse model of prodromal Alzheimer's disease
Author / Creator:Yamada, Hidetada ; Yamazaki, Yu ; Takebayashi, Yoshiko ; Yazawa, Kyosuke ; Sasanishi, Miwako ; Motoda, Atsuko ; Nakamori, Masahiro ; Morino, Hiroyuki ; Takahashi, Tetsuya ; Maruyama, Hirofumi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-01, Vol.14 (1), p.227-227, Article 227
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Kcnq (Kv7) channels exhibit frequency-dependent responses via partial inductor-like gating dynamics
Author / Creator:Eguchi, Yuta ; Kuwano, Yuki ; Okada, Satoshi ; Morino, Hiroyuki ; Hashimoto, Kouichi
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2025-06, Vol.8 (1), p.866-14
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Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients
Author / Creator:Kurashige, Takashi ; Morino, Hiroyuki ; Ueno, Hiroki ; Murao, Tomomi ; Watanabe, Tomoaki ; Hinoi, Takao ; Nishino, Ichizo ; Torii, Tsuyoshi ; Maruyama, Hirofumi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-02, Vol.68 (2), p.91-95
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FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
Author / Creator:Toko, Megumi ; Ohshita, Tomohiko ; Kurashige, Takashi ; Morino, Hiroyuki ; Kume, Kodai ; Yamashita, Hiroshi ; Sobue, Gen ; Iwasaki, Yasushi ; Sone, Jun ; Kawakami, Hideshi ; Maruyama, Hirofumi
Publisher:London: BioMed Central Ltd
Journal title:BMC neurology, 2021-10, Vol.21 (1), p.1-396, Article 396
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First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China
Author / Creator:Naito, Hiroyuki ; Takahashi, Tetsuya ; Kamada, Masaki ; Morino, Hiroyuki ; Yoshino, Hiroyo ; Hattori, Nobutaka ; Maruyama, Hirofumi ; Kawakami, Hideshi ; Matsumoto, Masayasu
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-05, Vol.12 (5), p.e0177955-e0177955
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A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia
Author / Creator:Morino, Hiroyuki ; Matsuda, Yukiko ; Muguruma, Keiko ; Miyamoto, Ryosuke ; Ohsawa, Ryosuke ; Ohtake, Toshiyuki ; Otobe, Reiko ; Watanabe, Masahiko ; Maruyama, Hirofumi ; Hashimoto, Kouichi ; Kawakami, Hideshi
Publisher:England: BioMed Central Ltd
Journal title:Molecular brain, 2015-12, Vol.8 (1), p.89-89, Article 89
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Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation
Author / Creator:Kurashige, Takashi ; Morino, Hiroyuki ; Matsuda, Yukiko ; Mukai, Tomoya ; Murao, Tomomi ; Toko, Megumi ; Kume, Kodai ; Ohsawa, Ryosuke ; Torii, Tsuyoshi ; Tokinobu, Hiroshi ; Maruyama, Hirofumi ; Kawakami, Hideshi
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2020-02, Vol.91 (2), p.220-222
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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Author / Creator:Kume, Kodai ; Morino, Hiroyuki ; Miyamoto, Ryosuke ; Matsuda, Yukiko ; Ohsawa, Ryosuke ; Kanaya, Yuhei ; Tada, Yui ; Kurashige, Takashi ; Kawakami, Hideshi
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-03, Vol.21 (1), p.68-4, Article 68
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Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia
Author / Creator:Hara, Naoyuki ; Morino, Hiroyuki ; Matsuda, Yukiko ; Satoh, Kenichi ; Hashimoto, Kouichi ; Maruyama, Hirofumi ; Kawakami, Hideshi
Publisher:London: BioMed Central Ltd
Journal title:Molecular brain, 2020-11, Vol.13 (1), p.1-163, Article 163
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Amyloid Beta Is Internalized via Macropinocytosis, an HSPG- and Lipid Raft-Dependent and Rac1-Mediated Process
Author / Creator:Nazere, Keyoumu ; Takahashi, Tetsuya ; Hara, Naoyuki ; Muguruma, Kazuki ; Nakamori, Masahiro ; Yamazaki, Yu ; Morino, Hiroyuki ; Maruyama, Hirofumi
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2022-02, Vol.15, p.804702-804702
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Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
Author / Creator:Morino, Hiroyuki ; Miyamoto, Ryosuke ; Ohnishi, Shizuo ; Maruyama, Hirofumi ; Kawakami, Hideshi
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2014-01, Vol.14 (1), p.5-5, Article 5
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Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
Author / Creator:Toko, Megumi ; Ohshita, Tomohiko ; Kurashige, Takashi ; Morino, Hiroyuki ; Kume, Kodai ; Yamashita, Hiroshi ; Sobue, Gen ; Iwasaki, Yasushi ; Sone, Jun ; Kawakami, Hideshi ; Maruyama, Hirofumi
Publisher:London: BioMed Central Ltd
Journal title:BMC neurology, 2021-10, Vol.21 (1), p.1-413, Article 413
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Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
Author / Creator:Hanada, Kenta ; Osaki, Yusuke ; Miyamoto, Ryosuke ; Muto, Kohei ; Haji, Shotaro ; Nazere, Keyoumu ; Kuwano, Yuki ; Morino, Hiroyuki ; Azuma, Yoshiteru ; Miyatake, Satoko ; Matsumoto, Naomichi ; Izumi, Yuishin
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2024-08, Vol.11 (1), p.29-3, Article 29
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Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report
Author / Creator:Fujita, Koji ; Matsubara, Tomoyasu ; Miyamoto, Ryosuke ; Sumikura, Hiroyuki ; Takeuchi, Toshiaki ; Maruyama Saladini, Keiko ; Kawarai, Toshitaka ; Nodera, Hiroyuki ; Udaka, Fukashi ; Kume, Kodai ; Morino, Hiroyuki ; Kawakami, Hideshi ; Hasegawa, Masato ; Kaji, Ryuji ; Murayama, Shigeo ; Izumi, Yuishin
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2019-07, Vol.19 (1), p.168-168, Article 168
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Showing 1 to 20 of 31 results

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The first Japanese case of primary familial brain calcification caused by an MYORG variant

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Mutations of optineurin in amyotrophic lateral sclerosis

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Th17 and effector CD8 T cells relate to disease progression in amyotrophic lateral sclerosis: a case control study

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Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

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Analysis of genetic risk factors in Japanese patients with Parkinson’s disease

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Aggressive periodontitis and NOD2 variants

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The long-term effects of heated tobacco product exposure on the central nervous system in a mouse model of prodromal Alzheimer's disease

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Kcnq (Kv7) channels exhibit frequency-dependent responses via partial inductor-like gating dynamics

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Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients

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

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

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

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Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation

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

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Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia

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Amyloid Beta Is Internalized via Macropinocytosis, an HSPG- and Lipid Raft-Dependent and Rac1-Mediated Process

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

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

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Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report

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

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