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M

Masaru Shimura

Kagoshima University
H指数:22
被引数:2,390

个人简介

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教育背景

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荣誉奖项

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Pleiotropic effects of MORC2 derive from its epigenetic signature

MORC2的多种表型效应源于其表观遗传特征

BRAIN
IF11.7
2025-12-011
OAAI
Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
BRAIN COMMUNICATIONS
IF4.5
2024-05-063
OAAI
Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Baric, Ivo; Ramadza, Danijela Petkovic; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, Rene; Servidei, Serenella; Bris, Celine; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cecile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina
Genetic landscape of pediatric acute liver failure of indeterminate origin
HEPATOLOGY
IF15.8
2023-11-168
OAAI
Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger
Strategic validation of variants of uncertain significance in ECHS1 genetic testing

ECHS1基因检测中不确定意义变异的策略性验证

JOURNAL OF MEDICAL GENETICS
IF3.7
2023-04-132
PRE
Kishita, Yoshihito; Sugiura, Ayumu; Onuki, Takanori; Ebihara, Tomohiro; Matsuhashi, Tetsuro; Shimura, Masaru; Fushimi, Takuya; Ichino, Noriko; Nagatakidani, Yoshie; Nishihata, Hitomi; Nitta, Kazuhiro R.; Yatsuka, Yukiko; Imai-Okazaki, Atsuko; Wu, Yibo; Osaka, Hitoshi; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions

隐性NUP54变异是纹状体病变的早发性肌张力障碍的基础

ANNALS OF NEUROLOGY
IF7.7
2022-11-188
OA
Harrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadege; Spitz, Marie Aude; Warde, Marie-Therese Abi; Schaefer, Elise; Kittke, Volker M. Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melcak, Ivo; Winkelmann, Juliane; Zech, Michael
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A

在患有m.14453G> a的婴儿发作患者中，Leigh综合征的发展具有很高的心脏表现的可能性

Mitochondrion
IF4.5
2022-03-016
OAAI
Shimura, Masaru; Onuki, Takanori; Sugiyama, Yohei; Matsuhashi, Tetsuro; Ebihara, Tomohiro; Fushimi, Takuya; Tajika, Makiko; Ichimoto, Keiko; Matsunaga, Ayako; Tsuruoka, Tomoko; Nitta, Kazuhiro R.; Imai-Okazaki, Atsuko; Yatsuka, Yukiko; Kishita, Yoshihito; Ohtake, Akira; Okazaki, Yasushi; Murayama, Kei
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan (vol 11, 3531, 2021)

核基因缺陷引起的严重线粒体疾病的产前诊断: 日本的一项研究 (第11卷，3531，2021)

SCIENTIFIC REPORTS
IF3.9
2021-11-160
OAAI
Akiyama, Nana; Shimura, Masaru; Yamazaki, Taro; Harashima, Hiroko; Fushimi, Takuya; Tsuruoka, Tomoko; Ebihara, Tomohiro; Ichimoto, Keiko; Matsunaga, Ayako; Saito-Tsuruoka, Megumi; Yatsuka, Yukiko; Kishita, Yoshihito; Kohda, Masakazu; Namba, Akira; Kamei, Yoshimasa; Okazaki, Yasushi; Kosugi, Shinji; Ohtake, Akira; Murayama, Kei
Macroscopic Characteristics of the Native Liver in Children With MPV17-Related Mitochondrial DNA Depletion Syndrome: An Indication for Performing Liver Transplantation?
LIVER TRANSPLANTATION
IF3.9
2021-10-122
PREAI
Kasahara, Mureo; Sakamoto, Seisuke; Fukuda, Akinari; Horikawa, Reiko; Ito, Reiko; Uchida, Hajime; Yanagi, Yusuke; Shimizu, Seiichi; Nakao, Toshimasa; Mimori, Kotaro; Haga, Chizuko; Schlegel, Andrea; Ohtake, Akira; Shimura, Masaru; Fushimi, Takuya; Ichimoto, Keiko; Matsunaga, Ayako; Murayama, Kei
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

新生儿发病线粒体病的临床特征、分子诊断及预后

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
IF3.6
2021-10-0714
OAAI
Ebihara, Tomohiro; Nagatomo, Taro; Sugiyama, Yohei; Tsuruoka, Tomoko; Osone, Yoshiteru; Shimura, Masaru; Tajika, Makiko; Matsuhashi, Tetsuro; Ichimoto, Keiko; Matsunaga, Ayako; Akiyama, Nana; Ogawa-Tominaga, Minako; Yatsuka, Yukiko; Nitta, Kazuhiro R.; Kishita, Yoshihito; Fushimi, Takuya; Imai-Okazaki, Atsuko; Ohtake, Akira; Okazaki, Yasushi; Murayama, Kei
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients

223例儿童线粒体病患者心肌病的长期预后和遗传背景

INTERNATIONAL JOURNAL OF CARDIOLOGY
IF3.2
2021-10-0112
OAAI
Imai-Okazaki, Atsuko; Matsunaga, Ayako; Yatsuka, Yukiko; Nitta, Kazuhiro R.; Kishita, Yoshihito; Sugiura, Ayumu; Sugiyama, Yohei; Fushimi, Takuya; Shimura, Masaru; Ichimoto, Keiko; Tajika, Makiko; Ogawa-Tominaga, Minako; Ebihara, Tomohiro; Matsuhashi, Tetsuro; Tsuruoka, Tomoko; Kohda, Masakazu; Hirata, Tomoko; Harashima, Hiroko; Nojiri, Shuko; Takeda, Atsuhito; Nakaya, Akihiro; Kogaki, Shigetoyo; Sakata, Yasushi; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi

研究方向

暂未获取到该数据
K
Kei Murayama
H 指数:37论文数:297被引数:5,299
Y
Yasushi Okazaki
H 指数:65论文数:697被引数:2.7万
A
Akira Ohtake
H 指数:43论文数:250被引数:6,011
Y
Yoshihito Kishita
H 指数:25论文数:78被引数:2,287
T
Takuya Fushimi
H 指数:14论文数:45被引数:845
K
Keiko Ichimoto
H 指数:13论文数:36被引数:793
Y
Yukiko Yatsuka
H 指数:11论文数:44被引数:659
A
Ayako Matsunaga
H 指数:11论文数:34被引数:414
T
Tomohiro Ebihara
H 指数:8论文数:29被引数:177
T
Tomoko Tsuruoka
H 指数:11论文数:30被引数:416