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徳島大学大学院医歯薬学研究部医学域医科学部門生理系遺伝情報医学
徳島大学医学部医学科生体制御医学講座遺伝情報医学分野
徳島大学医学研究科医学専攻生体制御医学講座
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研究活動

個人のホームページ

専門分野

遺伝学 (Genetics)

研究テーマ

遺伝性疾患の原因遺伝子検索と病態解明 (遺伝学 (genetics), 神経変性 (neurodegeneration), ゲノム編集 (genome editing), 遺伝子工学 (genetic engineering), 遺伝子治療 (gene therapy))

著書・論文

著書:

1. 和泉 唯信, 沖 良祐, 森野 豊之 :
第1部不随意運動 第14章運動失調,
株式会社 診断と治療社, 2025年6月.
2. Hiroyuki Morino, Yukiko Matsuda and Hideshi Kawakami :
Channelopathies and Cerebellar Disease,
Jan. 2021.
(DOI: 10.1007/978-3-030-23810-0_113,   Elsevier: Scopus)
3. Juliane Eva Vollstedt, Meike Kasten, Christine Klein, Jan Aasly, Charles Adler, Azlina Ahmad-Annuar, Alberto Albanese, N. Roy Alcalay, Bashayer Al-Mubarak, Victoria Alvarez, Brennie Andree-Muñoz, Grazia Annesi, Silke Appel-Cresswell, David Arkadir, Sebastian Armasu, R. Thomas Barber, Soraya Bardien, Melinda Barkhuizen, J. Matthew Barrett, Nazlı A. Başak, Thomas Beach, A. Bruno Benitez, Daniela Berg, Kailash Bhatia, Ferdinand Binkofski, Cornelis Blauwendraat, Vincenzo Bonifati, Vanderci Borges, Maria Bozi, Alexis Brice, Laura Brighina, Kathrin Brockmann, Thomas Brücke, Norbert Brüggemann, Marta Camacho, Francisco Cardoso, Carmine Andrea Belin, Jonathan Carr, Piu Chan, Jorge Chang-Castello, Bruce Chase, Alice Chen-Plotkin, Sun Chung Ju, Roberto Cilia, Jordi Clarimon, Lorraine Clark, Mario Cornejo-Olivas, Christophe Jean Corvol, Carlos Cosentino, Patrick Cras, David Crosiers, Joana Damásio, Parimal Das, Patricia Carvalho Aguiar de, Giuseppe Michele De, Anna Rosa De, Elena Dieguez, Jolanta Dorszewska, Sevda Erer, Sibel Ertan, Matthew Farrer, Ekaterina Fedotova, Rosangela Ferese, Carlo Ferrarese, Henrique Ferraz, Ondrej Fiala, Tatiana Foroud, Andrzej Friedman, Roberta Frigerio, Manabu Funayama, Stefano Gambardella, Gaetan Garraux, M. Emilia Gatto, Gençer Genç, Nir Giladi, Stefano Goldwurm, Carlos Juan Gomez-Esteban, Pilar Gómez-Garre, Ana Gorostidi, Donald Grosset, Hasmet Hanagasi, John Hardy, Anhar Hassan, Nobutaka Hattori, A. Robert Hauser, Peter Hedera, Faycal Hentati, Michael Jens Hertz, L. Janice Holton, Henry Houlden, H. Mara Hutz, Takeshi Ikeuchi, Sergey Illarioshkin, Miguel Inca-Martinez, Jon Infante, Joseph Jankovic, Seok Beom Jeon, Silvia Jesús, Marlene Jimenez-Del-Rio, Valtteri Kaasinen, et al. and Hiroyuki Morino :
Using global team science to identify genetic parkinson's disease worldwide,
Jun. 2019.
(DOI: 10.1002/ana.25514,   PubMed: 31155756,   Elsevier: Scopus)

学術論文(審査論文):

1. Tomoyuki Iwata, Yoko Mizoguchi, Tetsuya Yoshimoto, Miyuki Tsumura, Fumiaki Sakura, R. Jeffrey Johnson, Shinji Matsuda, Kazuhisa Ouhara, Yukiko Nagatani, Takaki Asano, Hidenori Ohnishi, Zenichiro Kato, Keichiro Mihara, Hirokazu Kanegane, Tomoya Ueda, Shinya Sasaki, Yuri Taniguchi, Yurika Ninomiya, Yoshinori Ohno, Kyoko Suzuki-Takedachi, Yusuke Sotomaru, Tetsushi Sakuma, Takashi Yamamoto, Yukiko Matsuda, Kodai Kume, Terukazu Sanui, Fusanori Nishimura, Mikihito Kajiya, Yasuyoshi Ueki, Hidemi Kurihara, Hiroyuki Morino, Satoshi Okada, Hideshi Kawakami and Noriyoshi Mizuno :
Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis,
The Journal of Experimental Medicine, 222, 9, 2025.
(DOI: 10.1084/jem.20231911,   PubMed: 40663042,   Elsevier: Scopus)
2. Yuta Eguchi, Yuki Kuwano, Satoshi Okada, Hiroyuki Morino and Kouichi Hashimoto :
Kcnq (Kv7) channels exhibit frequency-dependent responses via partial inductor-like gating dynamics,
Communications Biology, 8, 1, 866, 2025.
(DOI: 10.1038/s42003-025-08302-6,   PubMed: 40473867,   Elsevier: Scopus)
3. Kazuki Muguruma, Tetsuya Takahashi, Yuichiro Tagane, Keyoumu Nazere, Naoyuki Hara, Masahiro Nakamori, Yu Yamazaki, Hiroyuki Morino and Hirofumi Maruyama :
Intracellular anionic substances cause tau liquid-liquid phase separation.,
Biochemical and Biophysical Research Communications, 757, 2025.
(DOI: 10.1016/j.bbrc.2025.151605,   PubMed: 40107109)
4. Tatsuo Itou, Koji Fujita, Yuumi Okuzono, Dnyaneshwar Warude, Shuuichi Miyakawa, Yoshimi Mihara, Naoko Matsui, Hiroyuki Morino, Yusuke Kikukawa and Yuishin Izumi :
Th17 and effector CD8 T cells relate to disease progression in amyotrophic lateral sclerosis: a case control study.,
Journal of Neuroinflammation, 21, 1, 2024.
(DOI: 10.1186/s12974-024-03327-w,   PubMed: 39731185)
5. Yusuke Osaki, Hiroyuki Nodera, Ryota Sato, Shotaro Haji, Koji Fujita, Ryosuke Miyamoto, Kohei Muto, Hiroki Yamazaki, Hiroyuki Morino, Takashi Kanda, Shigeo Murayama, Ryuji Kaji and Yuishin Izumi :
Peripheral nerve excitability abnormalities in Neuronal Intranuclear Inclusion Disease: Assessment with histopathological analysis,
Clinical Neurophysiology, 170, 156-167, 2024.
(DOI: 10.1016/j.clinph.2024.12.013,   PubMed: 39724790,   Elsevier: Scopus)
6. Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda and Masataka Sata :
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.,
Human Genome Variation, 11, 1, 2024.
(徳島大学機関リポジトリ: 2012255,   DOI: 10.1038/s41439-024-00288-7,   PubMed: 39152105,   Elsevier: Scopus)
7. Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto and Yuishin Izumi :
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.,
Human Genome Variation, 11, 1, 29, 2024.
(徳島大学機関リポジトリ: 2012806,   DOI: 10.1038/s41439-024-00287-8,   PubMed: 39143067)
8. Shusuke Yagi, Muneyuki Kadota, Ryo Bando, Ryosuke Miyamoto, Hiroyuki Morino, Akiyoshi Kakutani, Yoshiaki Kubo, Takayuki Ise, Rie Ueno, Tomoya Hara, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda and Masataka Sata :
Pulmonary Arterial Hypertension in Neurofibromatosis Type 1: A Case with a Novel NF1 Gene Mutation,
Internal Medicine, 64, 5, 725-728, 2024.
(DOI: 10.2169/internalmedicine.3856-24,   PubMed: 38987187,   Elsevier: Scopus)
9. Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe and Naomichi Matsumoto :
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.,
Journal of Neurology, Neurosurgery, and Psychiatry, 95, 12, 1187-1195, 2024.
(DOI: 10.1136/jnnp-2024-333541,   PubMed: 38816190)
10. Takafumi Tomenaga, Shinobu Minatani, Hiroto Namba, Akitoshi Takeda, Takahito Yoshizaki, Joji Kawabe, Keyoumu Nazere, Hiroyuki Morino, Makoto Higuchi, Tomoyasu Matsubara, Hiroyuki Hatsuta, Masato Hasegawa, Shigeo Murayama and Yoshiaki Itoh :
An autopsy case of type A FTLD-TDP with a GRN mutation presenting with the logopenic variant of primary progressive aphasia at onset and with corticobasal syndrome subsequently.,
Neuropathology, 2024.
(DOI: 10.1111/neup.12980,   PubMed: 38715398)
11. Hiroyuki Morino, Takashi Kurashige, Yukiko Matsuda, Maiko Ono, Naruhiko Sahara, Tomohiro Miyasaka, Yoshiyuki Soeda, Hitoshi Shimada, Yu Yamazaki, Tetsuya Takahashi, Yuishin Izumi, Hidefumi Ito, Hirofumi Maruyama, Makoto Higuchi, Koji Arihiro, Tetsuya Suhara, Akihiko Takashima and Hideshi Kawakami :
Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.,
Movement Disorders Clinical Practice, 2024.
(DOI: 10.1002/mdc3.14042,   PubMed: 38605589)
12. Mizuho Kittaka, Noriyoshi Mizuno, Hiroyuki Morino, Tetsuya Yoshimoto, Tianli Zhu, Sheng Liu, Ziyi Wang, Kotoe Mayahara, Kyohei Iio, Kaori Kondo, Toshio Kondo, Tatsuhide Hayashi, Sarah Coghlan, Yayoi Teno, Phung Andrew Anh Doan, Marcus Levitan, B Roy Choi, Shinji Matsuda, Kazuhisa Ouhara, Jun Wan, M Annelise Cassidy, Stephane Pelletier, Sheela Nampoothiri, J Andoni Urtizberea, G Alexander Robling, Mitsuaki Ono, Hideshi Kawakami, J Ernst Reichenberger and Yasuyoshi Ueki :
Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families.,
JBMR Plus, 8, 6, 2024.
(徳島大学機関リポジトリ: 2000078,   DOI: 10.1093/jbmrpl/ziae050,   PubMed: 38699440)
13. Hidetada Yamada, Yu Yamazaki, Yoshiko Takebayashi, Kyosuke Yazawa, Miwako Sasanishi, Atsuko Motoda, Masahiro Nakamori, Hiroyuki Morino, Tetsuya Takahashi and Hirofumi Maruyama :
The long-term effects of heated tobacco product exposure on the central nervous system in a mouse model of prodromal Alzheimer's disease.,
Scientific Reports, 14, 1, 2024.
(徳島大学機関リポジトリ: 2012138,   DOI: 10.1038/s41598-023-50941-4,   PubMed: 38167640)
14. 和泉 唯信, 松原 知康, 山﨑 博輝, 森野 豊之 :
筋萎縮性側索硬化症の核酸医薬,
脳神経内科, 101, 2, 164-169, 2024年.
(CiNii: 1520020132118024448)
15. 行重 佐和香, 井上 寛章, 乾 友浩, 笹 聡一郎, 青山 万理子, 後藤 正和, 森野 豊之, 吉田 友紀子, 宮本 容子, 滝沢 宏光 :
BRCA遺伝学的検査の結果inconclusiveとなった3例,
遺伝性腫瘍, 24, 2, 147-152, 2024年.
16. Mai Kikumoto, Takashi Kurashige, Tomohiko Ohshita, Kodai Kume, Osamu Kikumoto, Tomohisa Nezu, Shiro Aoki, Kazuhide Ochi, Hiroyuki Morino, Eiichi Nomura, Hiroshi Yamashita, Mayumi Kaneko, Hirofumi Maruyama and Hideshi Kawakami :
'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy.,
Brain Communications, 5, 6, fcad281, 2023.
(徳島大学機関リポジトリ: 2000130,   DOI: 10.1093/braincomms/fcad281,   PubMed: 37953842)
17. Yoshiko Takebayashi, Yu Yamazaki, Hidetada Yamada, Kyosuke Yazawa, Masahiro Nakamori, Takashi Kurashige, Hiroyuki Morino, Tetsuya Takahashi, Yusuke Sotomaru and Hirofumi Maruyama :
Apolipoprotein E genotype-dependent accumulation of amyloid β in APP-knock-in mouse model of Alzheimer's disease.,
Biochemical and Biophysical Research Communications, 683, 2023.
(DOI: 10.1016/j.bbrc.2023.10.038,   PubMed: 37857162,   Elsevier: Scopus)
18. Kodai Kume, Takashi Kurashige, Keiko Muguruma, Hiroyuki Morino, Yui Tada, Mai Kikumoto, Tatsuo Miyamoto, Natsuko Silvia Akutsu, Yukiko Matsuda, Shinya Matsuura, Masahiro Nakamori, Ayumi Nishiyama, Rumiko Izumi, Tetsuya Niihori, Masashi Ogasawara, Nobuyuki Eura, Tamaki Kato, Mamoru Yokomura, Yoshiaki Nakayama, Hidefumi Ito, Masataka Nakamura, Kayoko Saito, Yuichi Riku, Yasushi Iwasaki, Hirofumi Maruyama, Yoko Aoki, Ichizo Nishino, Yuishin Izumi, Masashi Aoki and Hideshi Kawakami :
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.,
American Journal of Human Genetics, 110, 7, 1086-1097, 2023.
(徳島大学機関リポジトリ: 2011923,   DOI: 10.1016/j.ajhg.2023.05.014,   PubMed: 37339631,   Elsevier: Scopus)
19. Shotaro Haji, Ryosuke Miyamoto, Hiroyuki Morino, Yusuke Osaki, Seijiro Tsuji, Ichizo Nishino, Masahiro Abe and Yuishin Izumi :
Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report.,
Neurology. Genetics, 9, 3, e200070, 2023.
(DOI: 10.1212/NXG.0000000000200070,   PubMed: 37529414)
20. Shotaro Haji, Koji Fujita, Ryosuke Oki, Yusuke Osaki, Ryosuke Miyamoto, Hiroyuki Morino, Seiichi Nagano, Naoki Atsuta, Yuki Kanazawa, Yuki Matsumoto, Atsuko Arisawa, Hisashi Kawai, Yasutaka Sato, Satoshi Sakaguchi, Kenta Yagi, Tatsuto Hamatani, Tatsuo Kagimura, Hiroaki Yanagawa, Hideki Mochizuki, Manabu Doyu, Gen Sobue, Masafumi Harada and Yuishin Izumi :
An Exploratory Trial of EPI-589 in Amyotrophic Lateral Sclerosis (EPIC-ALS): Protocol for a Multicenter, Open-Labeled, 24-Week, Single-Group Study,
JMIR Research Protocols, 12, e42032, 2023.
(徳島大学機関リポジトリ: 2011601,   DOI: 10.2196/42032,   PubMed: 36716091,   Elsevier: Scopus)
21. Hidetada Yamada, Shuichiro Neshige, Hiroyuki Morino and Hirofumi Maruyama :
Extubation failure due to atypical parkinsonism with negligible motor and variable non-motor symptoms associated with a variant of DCTN1.,
Internal and Emergency Medicine, 2022.
(DOI: 10.1007/s11739-022-03105-7,   PubMed: 36504048)
22. Hidetada Yamada, Masahiro Nakamori, Junichiro Kuga, Akemi Hironaka, Takamichi Sugimoto, Hiroki Ueno, Tomohiko Ohshita, Hiroyuki Morino and Hirofumi Maruyama :
Nerve Ultrasonography for the Diagnosis and Evaluation of Neuralgic Amyotrophy: A Case Report.,
Internal Medicine, 2022.
(DOI: 10.2169/internalmedicine.0005-22,   PubMed: 36351573)
23. Takashi Kurashige, Hiroyuki Morino, Hiroki Ueno, Tomomi Murao, Tomoaki Watanabe, Takao Hinoi, Ichizo Nishino, Tsuyoshi Torii and Hirofumi Maruyama :
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients.,
Journal of Human Genetics, 2022.
(徳島大学機関リポジトリ: 2010846,   DOI: 10.1038/s10038-022-01095-0,   PubMed: 36336708)
24. Takashi Kurashige, Hiroyuki Morino, Tomomi Murao, Yuishin Izumi, Tomohito Sugiura, Kazuya Kuraoka, Hideshi Kawakami, Tsuyoshi Torii and Hirofumi Maruyama :
TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis.,
JAMA Neurology, 79, 7, 693-701, 2022.
(DOI: 10.1001/jamaneurol.2022.1113,   PubMed: 35604654)
25. Rieko Kanzaki, Hiroyuki Morino, Keiko Mukaida, Kodai Kume, Ryosuke Ohsawa, Yuko Noda, Sachiko Otsuki, Hirotsugu Miyoshi, Takashi Kondo, Ryuji Nakamura, Masashi Kawamoto, Hideshi Kawakami and Yasuo Tsutsumi :
Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan,
Hiroshima Journal of Medical Sciences, 71, 1-2, 31-38, 2022.
(DOI: 10.24811/hjms.71.1-2_31,   Elsevier: Scopus)
26. Keyoumu Nazere, Tetsuya Takahashi, Naoyuki Hara, Kazuki Muguruma, Masahiro Nakamori, Yu Yamazaki, Hiroyuki Morino and Hirofumi Maruyama :
Amyloid Beta Is Internalized via Macropinocytosis, an HSPG- and Lipid Raft-Dependent and Rac1-Mediated Process,
Frontiers in Molecular Neuroscience, 15, 2022.
(徳島大学機関リポジトリ: 2010532,   DOI: 10.3389/fnmol.2022.804702,   Elsevier: Scopus)
27. Kenichi Ishikawa, Mutsuko Araki, Yoshito Nagano, Atsuko Motoda, Takeo Shishido, Takashi Kurashige, Tetsuya Takahashi, Hiroyuki Morino, Hideshi Kawakami, Masayasu Matsumoto and Hirofumi Maruyama :
Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions.,
Differentiation; Research in Biological Diversity, 123, 1-8, 2021.
(DOI: 10.1016/j.diff.2021.11.004,   PubMed: 34844057)
28. Megumi Toko, Tomohiko Ohshita, Takashi Kurashige, Hiroyuki Morino, Kodai Kume, Hiroshi Yamashita, Gen Sobue, Yasushi Iwasaki, Jun Sone, Hideshi Kawakami and Hirofumi Maruyama :
FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.,
BMC Neurology, 21, 1, 2021.
(DOI: 10.1186/s12883-021-02425-z,   PubMed: 34641814,   Elsevier: Scopus,   Elsevier: Scopus)
29. Mai Kikumoto, Tomohisa Nezu, Yuji Shiga, Atsuko Motoda, Megumi Toko, Takashi Kurashige, Hiroki Ueno, Tetsuya Takahashi, Hiroyuki Morino, Jun Sone, Yasushi Iwasaki, Gen Sobue and Hirofumi Maruyama :
Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging.,
Neurology. Genetics, 7, 4, 2021.
(DOI: 10.1212/NXG.0000000000000601,   PubMed: 34131587)
30. Hidetada Yamada, Shuichiro Neshige, Takeo Shishido, Hiroki Ueno, Tomohiko Ohshita, Hiroyuki Morino and Hirofumi Maruyama :
Efficacy of Lacosamide in a Patient with Refractory Generalized Epilepsy Based on Video Electroencephalography.,
Internal Medicine, 60, 22, 3621-3624, 2021.
(DOI: 10.2169/internalmedicine.7295-21,   PubMed: 34053987)
31. Tomoyasu Matsubara, Yuishin Izumi, Masaya Oda, Masatoshi Takahashi, Hirofumi Maruyama, Ryosuke Miyamoto, Chigusa Watanabe, Yoshiro Tachiyama, Hiroyuki Morino, Hideshi Kawakami, Yuko Saito and Shigeo Murayama :
An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP-43 proteinopathy,
Neuropathology, 41, 2, 118-126, 2021.
(DOI: 10.1111/neup.12710,   PubMed: 33415820)
32. Hiroyuki Naito, Tomohisa Nezu, Naohisa Hosomi, Daisuke Kuzume, Shiro Aoki, Yuko Morimoto, Takeshi Yoshida, Teppei Kamimura, Yuji Shiga, Naoto Kinoshita, Hiroki Ueno, Hiroyuki Morino and Hirofumi Maruyama :
Increased Serum Alkaline Phosphatase and Functional Outcome in Patients with Acute Ischemic Stroke Presenting a Low Ankle-Brachial Index.,
Journal of Atherosclerosis and Thrombosis, 29, 5, 719-730, 2021.
(DOI: 10.5551/jat.62795,   PubMed: 33790143)
33. Y Kanaya, K Kume, Hiroyuki Morino, R Ohsawa, T Kurashige, M Kamada, T Torii, Yuishin Izumi, H Maruyama and H Kawakami :
Analysis of genetic risk factors in Japanese patients with Parkinson's disease,
Journal of Human Genetics, 66, 10, 957-964, 2021.
(DOI: 10.1038/s10038-021-00910-4,   PubMed: 33742109,   Elsevier: Scopus)
34. Shuichiro Neshige, Shiro Aoki, Takeo Shishido, Hiroyuki Morino, Koji Iida and Hirofumi Maruyama :
Socio-economic impact on epilepsy outside of the nation-wide COVID-19 pandemic area.,
Epilepsy & Behavior : E&B, 117, 2021.
(DOI: 10.1016/j.yebeh.2021.107886,   PubMed: 33714184)
35. Takashi Kurashige, Masahito Kuramochi, Ryosuke Ohsawa, Yui Yamashita, Go Shioi, Hiroyuki Morino, Masaki Kamada, Takashi Ayaki, Hidefumi Ito, Yusuke Sotomaru, Hirofumi Maruyama and Hideshi Kawakami :
Optineurin defects cause TDP43-pathology with autophagic vacuolar formation,
Neurobiology of Disease, 148, 105215, 2020.
(DOI: 10.1016/j.nbd.2020.105215,   PubMed: 33296728,   Elsevier: Scopus)
36. Naoyuki Hara, Hiroyuki Morino, Yukiko Matsuda, Kenichi Satoh, Kouichi Hashimoto, Hirofumi Maruyama and Hideshi Kawakami :
Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia,
Molecular Brain, 13, 1, 163, 2020.
(DOI: 10.1186/s13041-020-00700-7,   PubMed: 33243296,   Elsevier: Scopus)
37. Toshinori Matsuoka, Miwako Yamasaki, Manabu Abe, Yukiko Matsuda, Hiroyuki Morino, Hideshi Kawakami, Kenji Sakimura, Masahiko Watanabe and Kouichi Hashimoto :
Kv11 (ether-à-go-go-related gene) voltage-dependent K+ channels promote resonance and oscillation of subthreshold membrane potentials,
The Journal of Physiology, 599, 2, 547-569, 2020.
(DOI: 10.1113/JP280342,   PubMed: 33151574,   Elsevier: Scopus)
38. Kodai Kume, Tadayuki Takata, Hiroyuki Morino, Yukiko Matsuda, Ryosuke Ohsawa, Yui Tada, Takashi Kurashige and Hideshi Kawakami :
The first Japanese case of primary familial brain calcification caused by an MYORG variant,
Journal of Human Genetics, 65, 10, 917-920, 2020.
(DOI: 10.1038/s10038-020-0779-x,   PubMed: 32451491,   Elsevier: Scopus)
39. Noriyoshi Mizuno, Kodai Kume, Yukiko Nagatani, Shinji Matsuda, Tomoyuki Iwata, Kazuhisa Ouhara, Mikihito Kajiya, Katsuhiro Takeda, Yukiko Matsuda, Yui Tada, Ryosuke Ohsawa, Hiroyuki Morino, Keichiro Mihara, Tsuyoshi Fujita, Hiroyuki Kawaguchi, Hideki Shiba, Hideshi Kawakami and Hidemi Kurihara :
Aggressive periodontitis and NOD2 variants,
Journal of Human Genetics, 65, 10, 841-846, 2020.
(DOI: 10.1038/s10038-020-0777-z,   PubMed: 32424308,   Elsevier: Scopus)
40. Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige and Hideshi Kawakami :
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: A case report,
BMC Medical Genetics, 21, 1, 68, 2020.
(DOI: 10.1186/s12881-020-01002-4,   PubMed: 32234020,   Elsevier: Scopus)
41. Noriyoshi Mizuno, Tomoyuki Iwata, Ryosuke Ohsawa, Kazuhisa Ouhara, Shinji Matsuda, Mikihito Kajiya, Yukiko Matsuda, Kodai Kume, Yui Tada, Hiroyuki Morino, Tetsuya Yoshimoto, Yasuyoshi Ueki, Keichiro Mihara, Yusuke Sotomaru, Katsuhiro Takeda, Syuichi Munenaga, Tsuyoshi Fujita, Hiroyuki Kawaguchi, Hideki Shiba, Hideshi Kawakami and Hidemi Kurihara :
Optineurin regulates osteoblastogenesis through STAT1,
Biochemical and Biophysical Research Communications, 525, 4, 889-894, 2020.
(DOI: 10.1016/j.bbrc.2020.03.028,   PubMed: 32171527,   Elsevier: Scopus)
42. Yui Tada, Kodai Kume, Yukiko Matsuda, Takashi Kurashige, Yuhei Kanaya, Ryosuke Ohsawa, Hiroyuki Morino, Hayato Tabu, Satoshi Kaneko, Toshihiko Suenaga, Akira Kakizuka and Hideshi Kawakami :
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia,
Journal of Human Genetics, 65, 4, 363-369, 2020.
(DOI: 10.1038/s10038-019-0717-y,   PubMed: 31907387,   Elsevier: Scopus)
43. Yukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, Takashi Kurashige, Kodai Kume, Noriyoshi Mizuno, Yuhei Kanaya, Yui Tada, Ryosuke Ohsawa, Kazunori Yokota, Nobuyuki Shimozawa, Hirofumi Maruyama and Hideshi Kawakami :
Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia,
Neurology. Genetics, 6, 1, 2020.
(DOI: 10.1212/NXG.0000000000000396,   Elsevier: Scopus)
44. Koji Fujita, Tomoyasu Matsubara, Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Keiko Saladini Maruyama, Toshitaka Kawarai, Hiroyuki Nodera, Fukashi Udaka, Kodai Kume, Hiroyuki Morino, Hideshi Kawakami, Masato Hasegawa, Ryuji Kaji, Shigeo Murayama and Yuishin Izumi :
Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report,
BMC Neurology, 19, 1, 168, 2019.
(DOI: 10.1186/s12883-019-1402-7,   PubMed: 31319800,   Elsevier: Scopus)
45. A. Ramos, M. Planchat, R. Melo A. Vieira, M. Raposo, U. Shamim, V. Suroliya, K. A. Srivastava, M. Faruq, Hiroyuki Morino, R. Ohsawa, H. Kawakami, L. Jardim Bannach, L. M. Saraiva-Pereira, J. Vasconcelos, C. Santos and M. Lima :
Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations,
European Journal of Neurology, 26, 3, 506-512, 2018.
(DOI: 10.1111/ene.13860,   PubMed: 30414314,   Elsevier: Scopus)
46. Tatsuo Miyamoto, Natsuko Silvia Akutsu, Akihiro Fukumitsu, Hiroyuki Morino, Yoshinori Masatsuna, Kosuke Hosoba, Hideshi Kawakami, Takashi Yamamoto, Kenji Shimizu, Hirofumi Ohashi and Shinya Matsuura :
PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation,
Human Molecular Genetics, 26, 22, 4429-4440, 2017.
(DOI: 10.1093/hmg/ddx330,   PubMed: 28973348,   Elsevier: Scopus)
47. Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami and Masayasu Matsumoto :
First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China,
PLoS ONE, 12, 5, e0177955, 2017.
(DOI: 10.1371/journal.pone.0177955,   PubMed: 28542277,   Elsevier: Scopus)
48. Hiroyuki Morino, Yukiko Matsuda, Keiko Muguruma, Ryosuke Miyamoto, Ryosuke Ohsawa, Toshiyuki Ohtake, Reiko Otobe, Masahiko Watanabe, Hirofumi Maruyama, Kouichi Hashimoto and Hideshi Kawakami :
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia,
Molecular Brain, 8, 1, 89, 2015.
(DOI: 10.1186/s13041-015-0180-4,   PubMed: 26715324,   Elsevier: Scopus)
49. Naoki Saji, Toshitaka Kawarai, Ryosuke Miyamoto, Takahiro Sato, Hiroyuki Morino, Antonio Orlacchio, Ryosuke Oki, Kazumi Kimura and Ryuji Kaji :
Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations,
Journal of the Neurological Sciences, 352, 1-2, 29-33, 2015.
(DOI: 10.1016/j.jns.2015.02.007,   PubMed: 25868896,   Elsevier: Scopus)
50. Takashi Ayaki, Hidefumi Ito, Hiroko Fukushima, Takeshi Inoue, Takayuki Kondo, Akito Ikemoto, Takeshi Asano, Akemi Shodai, Takuji Fujita, Satoshi Fukui, Hiroyuki Morino, Satoshi Nakano, Hirofumi Kusaka, Hirofumi Yamashita, Masafumi Ihara, Riki Matsumoto, Jun Kawamata, Makoto Urushitani, Hideshi Kawakami and Ryosuke Takahashi :
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant,
Acta Neuropathologica Communications, 2, 1, 172, 2014.
(DOI: 10.1186/s40478-014-0172-0,   PubMed: 25492614,   Elsevier: Scopus)
51. Hiroyuki Morino, B. Sarah Pierce, Yukiko Matsuda, Tom Walsh, Ryosuke Ohsawa, Marta Newby, Keiko Hiraki-Kamon, Masahito Kuramochi, K. Ming Lee, E. Rachel Klevit, Alan Martin, Hirofumi Maruyama, Claire Mary King and Hideshi Kawakami :
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features,
Neurology, 83, 22, 2054-2061, 2014.
(DOI: 10.1212/WNL.0000000000001036,   PubMed: 25355836,   Elsevier: Scopus)
52. Ryoichi Yagi, Ryosuke Miyamoto, Hiroyuki Morino, Yuishin Izumi, Masahito Kuramochi, Takashi Kurashige, Hirofumi Maruyama, Noriyoshi Mizuno, Hidemi Kurihara and Hideshi Kawakami :
Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing,
Neurobiology of Aging, 35, 7, 1780-1780.e5, 2014.
(DOI: 10.1016/j.neurobiolaging.2014.01.023,   PubMed: 24559647,   Elsevier: Scopus)
53. Hiroyuki Morino, Ryosuke Miyamoto, Shizuo Ohnishi, Hirofumi Maruyama and Hideshi Kawakami :
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient,
BMC Neurology, 14, 1, 5, 2014.
(DOI: 10.1186/1471-2377-14-5,   PubMed: 24397319,   Elsevier: Scopus)
54. Ryosuke Miyamoto, Hiroyuki Morino, Akio Yoshizawa, Yoshimichi Miyazaki, Hirofumi Maruyama, Nagahisa Murakami, Kei Fukada, Yuishin Izumi, Shinya Matsuura, Ryuji Kaji and Hideshi Kawakami :
Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia,
Journal of the Neurological Sciences, 337, 1-2, 219-223, 2013.
(DOI: 10.1016/j.jns.2013.11.032,   PubMed: 24332946,   Elsevier: Scopus)
55. H. Maruyama, Hiroyuki Morino, R. Miyamoto, N. Murakami, T. Hamano and H. Kawakami :
Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia,
Clinical Genetics, 85, 3, 296-297, 2013.
(DOI: 10.1111/cge.12140,   PubMed: 23551081,   Elsevier: Scopus)
56. Ai Miyashiro, Katsunobu Sugihara, Toshitaka Kawarai, Ryosuke Miyamoto, Yuishin Izumi, Hiroyuki Morino, Hirofumi Maruyama, Antonio Orlacchio, Hideshi Kawakami and Ryuji Kaji :
Oromandibular dystonia associated with SCA36,
Movement Disorders, 28, 4, 558-559, 2013.
(DOI: 10.1002/mds.25304,   PubMed: 23390045,   Elsevier: Scopus)
57. Hirofumi Maruyama, Hiroyuki Morino, Yuishin Izumi, Kouichi Noda and Hideshi Kawakami :
Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system,
American Journal of Neurodegenerative Disease, 2, 1, 35-39, 2013.
(Elsevier: Scopus)
58. Ikuko Takeda, Tetsuya Takahashi, Hiroki Ueno, Hiroyuki Morino, Kazuhide Ochi, Takeshi Nakamura, Naohisa Hosomi, Hideshi Kawakami, Kouichi Hashimoto and Masayasu Matsumoto :
Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1,
Neurology and Clinical Neuroscience, 1, 4, 131-137, 2013.
(DOI: 10.1111/ncn3.38,   Elsevier: Scopus)
59. Katsunobu Sugihara, Hirofumi Maruyama, Hiroyuki Morino, Ryosuke Miyamoto, Hiroki Ueno, Masayasu Matsumoto, Ryuji Kaji, Hiroshi Kitaguchi, Motohiro Yukitake, Yasuto Higashi, Kazuto Nishinaka, Masaya Oda, Yuishin Izumi and Hideshi Kawakami :
The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients,
Movement Disorders, 27, 9, 1158-1163, 2012.
(DOI: 10.1002/mds.25092,   PubMed: 22753339,   Elsevier: Scopus)
60. Hiroki Ueno, Keitaro Kobatake, Masayasu Matsumoto, Hiroyuki Morino, Hirofumi Maruyama and Hideshi Kawakami :
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,
Journal of Medical Case Reports, 5, 2011.
(DOI: 10.1186/1752-1947-5-573,   Elsevier: Scopus)
61. Koichi Hagiwara, Hiroyuki Morino, Jun Shiihara, Tomoaki Tanaka, Hitoshi Miyazawa, Tomoko Suzuki, Masakazu Kohda, Yasushi Okazaki, Kuniaki Seyama and Hideshi Kawakami :
Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients,
PLoS ONE, 6, 9, e25059, 2011.
(DOI: 10.1371/journal.pone.0025059,   PubMed: 21949849,   Elsevier: Scopus)
62. Eiji Tanaka, Hirofumi Maruyama, Hiroyuki Morino and Hideshi Kawakami :
Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay,
Hiroshima Journal of Medical Sciences, 60, 3, 63-66, 2011.
(PubMed: 22053702,   Elsevier: Scopus)
63. W. Katherine Snapinn, B. Eric Larson, Hideshi Kawakami, Hiroshi Ujike, R. Amy Borenstein, Yuishin Izumi, Ryuji Kaji, Hirofumi Maruyama, F. Ignacio Mata, Hiroyuki Morino, Masaya Oda, W. Debby Tsuang, Dora Yearout, L. Karen Edwards and P. Cyrus Zabetian :
The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population,
Parkinsonism & Related Disorders, 17, 6, 473-475, 2011.
(DOI: 10.1016/j.parkreldis.2011.01.019,   PubMed: 21345711,   Elsevier: Scopus)
64. Katsunobu Sugihara, Hirofumi Maruyama, Masaki Kamada, Hiroyuki Morino and Hideshi Kawakami :
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population,
Neurobiology of Aging, 32, 10, 1923-1923.e10, 2011.
(DOI: 10.1016/j.neurobiolaging.2011.03.024,   Elsevier: Scopus)
65. (名) Huqun, Ichiro Shun Fukuyama, Hiroyuki Morino, Hiroshi Miyazawa, Tomoaki Tanaka, Tomoko Suzuki, Masakazu Kohda, Hideshi Kawakami, Yasushi Okazaki, Kuniaki Seyama and Koichi Hagiwara :
A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data,
BMC Bioinformatics, 11, SUPPL. 7, S5, 2010.
(DOI: 10.1186/1471-2105-11-S7-S5,   PubMed: 21106127,   Elsevier: Scopus)
66. Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito, Yuishin Izumi, Hidemasa Kato, Yasuhito Watanabe, Yoshimi Kinoshita, Masaki Kamada, Hiroyuki Nodera, Hidenori Suzuki, Osamu Komure, Shinya Matsuura, Keitaro Kobatake, Nobutoshi Morimoto, Koji Abe, Naoki Suzuki, Masashi Aoki, Akihiro Kawata, Takeshi Hirai, Takeo Kato, Kazumasa Ogasawara, Asao Hirano, Toru Takumi, Hirofumi Kusaka, Koichi Hagiwara, Ryuji Kaji and Hideshi Kawakami :
Mutations of optineurin in amyotrophic lateral sclerosis,
Nature, 465, 7295, 223-226, 2010.
(DOI: 10.1038/nature08971,   PubMed: 20428114,   Elsevier: Scopus)
67. P. Cyrus Zabetian, Mitsutoshi Yamamoto, N. Alexis Lopez, Hiroshi Ujike, F. Ignacio Mata, Yuishin Izumi, Ryuji Kaji, Hirofumi Maruyama, Hiroyuki Morino, Masaya Oda, M. Carolyn Hutter, L. Karen Edwards, D. Gerard Schellenberg, W. Debby Tsuang, Dora Yearout, B. Eric Larson and Hideshi Kawakami :
LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease,
Movement Disorders, 24, 7, 1034-1041, 2009.
(DOI: 10.1002/mds.22514,   PubMed: 19343804,   Elsevier: Scopus)
68. Masaki Kamada, Hirofumi Maruyama, Eiji Tanaka, Hiroyuki Morino, Reika Wate, Hidefumi Ito, Hirofumi Kusaka, Yuji Kawano, Tetsuro Miki, Hiroyuki Nodera, Yuishin Izumi, Ryuji Kaji and Hideshi Kawakami :
Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis,
Journal of the Neurological Sciences, 284, 1-2, 69-71, 2009.
(DOI: 10.1016/j.jns.2009.04.017,   PubMed: 19411082,   Elsevier: Scopus)
69. Isha Shrestha, Tomohiko Ohshita, Hiromitsu Naka, Hiroyuki Morino and Masayasu Matsumoto :
Cytotoxic edema in neuro-Behcet's disease?,
Internal Medicine, 47, 23, 2073-2076, 2008.
(DOI: 10.2169/internalmedicine.47.1134,   PubMed: 19043264,   Elsevier: Scopus)
70. Kate Craig, Yoshihisa Takiyama, Wen Bing Soong, B. Laura Jardim, Luiza Maria Saraiva-Pereira, Kieren Lythgow, Hiroyuki Morino, Hirofumi Maruyama, Hideshi Kawakami and F. Patrick Chinnery :
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: Founder effect or predisposing chromosome?,
European Journal of Human Genetics : EJHG, 16, 7, 841-847, 2008.
(DOI: 10.1038/ejhg.2008.20,   PubMed: 18285829,   Elsevier: Scopus)
71. Eiji Tanaka, Hirofumi Maruyama, Hiroyuki Morino, Eiko Nakajima and Hideshi Kawakami :
The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia,
Journal of the Neurological Sciences, 266, 1-2, 180-181, 2007.
(DOI: 10.1016/j.jns.2007.09.004,   PubMed: 17915252,   Elsevier: Scopus)
72. Keiko Hiramoto, Hideshi Kawakami, Kimiko Inoue, Takahiro Seki, Hirofumi Maruyama, Hiroyuki Morino, Masayasu Matsumoto, Kaoru Kurisu and Norio Sakai :
Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4,
Movement Disorders, 21, 9, 1355-1360, 2006.
(DOI: 10.1002/mds.20970,   PubMed: 16763984,   Elsevier: Scopus)
73. P. C. Zabetian, Hiroyuki Morino, H. Ujike, M. Yamamoto, M. Oda, H. Maruyama, Y. Izumi, R. Kaji, A. Griffith, C. B. Leis, W. J. Roberts, D. Yearout, A. Samii and H. Kawakami :
Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease,
Neurology, 67, 4, 697-699, 2006.
(DOI: 10.1212/01.wnl.0000227732.37801.d4,   PubMed: 16728648,   Elsevier: Scopus)
74. Michie Nishitani, 森野 豊之, Naoki Matsuoka, Takafumi Miyachi, Hirofumi Maruyama, Tatsuo Kohriyama, Yasuyo Mimori, Masayasu Matsumoto, Hiromitsu Naka, Eiichi Nomura, Hiroshi Kajikawa :
Ultrasonographic evaluation of bow hunter's syndrome,
日本内科学会雑誌, 93, 11, 2424-2426, 2004年.
(DOI: 10.2169/naika.93.2424,   PubMed: 15624482,   Elsevier: Scopus)
75. Hideo Terasawa, Masaya Oda, Hiroyuki Morino, Takafumi Miyachi, Yuishin Izumi, Hirofumi Maruyama, Masayasu Matsumoto and Hideshi Kawakami :
A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan,
Neuroscience Letters, 358, 2, 107-110, 2004.
(DOI: 10.1016/j.neulet.2004.01.007,   PubMed: 15026160,   Elsevier: Scopus)
76. Masaya Oda, Hirofumi Maruyama, Osamu Komure, Hiroyuki Morino, Hideo Terasawa, Yuishin Izumi, Tohru Imamura, Minoru Yasuda, Keiji Ichikawa, Masafumi Ogawa, Masayasu Matsumoto and Hideshi Kawakami :
Possible Reduced Penetrance of Expansion of 44 to 47 CAG/CAA Repeats in the TATA-Binding Protein Gene in Spinocerebellar Ataxia Type 17,
Archives of Neurology, 61, 2, 209-212, 2004.
(DOI: 10.1001/archneur.61.2.209,   PubMed: 14967767,   Elsevier: Scopus)
77. Masaya Oda, Hirofumi Maruyama, Yuishin Izumi, Hiroyuki Morino, Tsuyoshi Torii, Shigenobu Nakamura and Hideshi Kawakami :
Dinucleotide Repeat Polymorphism in Interferon-γ Gene Is Not Associated with Sporadic Alzheimer's Disease,
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 124 B, 1, 48-49, 2004.
(DOI: 10.1002/ajmg.b.20097,   PubMed: 14681912,   Elsevier: Scopus)
78. Yuishin Izumi, Hirofumi Maruyama, Masaya Oda, Hiroyuki Morino, Takayuki Okada, Hidefumi Ito, Iwao Sasaki, Hiroyasu Tanaka, Osamu Komure, Fukashi Udaka, Shigenobu Nakamura and Hideshi Kawakami :
SCA8 repeat expansion: Large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6,
American Journal of Human Genetics, 72, 3, 704-709, 2003.
(DOI: 10.1086/367775,   PubMed: 12545428,   Elsevier: Scopus)
79. Hirofumi Maruyama, Yuishin Izumi, Hiroyuki Morino, Masaya Oda, Nakamura Toji Shigenobu Hiromasa and Hideshi Kawakami :
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients,
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 114, 5, 578-583, 2002.
(DOI: 10.1002/ajmg.10514,   PubMed: 12116198,   Elsevier: Scopus)
80. Masataka Nishimura, Hideshi Kawakami, Osamu Komure, Hirofumi Maruyama, Hiroyuki Morino, Yuishin Izumi, Shigenobu Nakamura, Ryuji Kaji and Sadako Kuno :
Contribution of the interleukin-1β gene polymorphism in multiple system atrophy,
Movement Disorders, 17, 4, 808-811, 2002.
(DOI: 10.1002/mds.10124,   PubMed: 12210881,   Elsevier: Scopus)
81. Kie Honjo, Yasuyo Mimori, 森野 豊之, Sadao Katayama, Shigenobu Nakamura :
A case of late onset mitochondrial neuromyopathy,
日本老年医学会雑誌, 39, 3, 318-321, 2002年.
(DOI: 10.3143/geriatrics.39.318,   PubMed: 12073596,   Elsevier: Scopus)
82. Masaya Oda, Hiroyuki Morino, Hirofumi Maruyama, Hideo Terasawa, Yuishin Izumi, Tsuyoshi Torii, Ken Sasaki, Shigenobu Nakamura and Hideshi Kawakami :
Dinucleotide repeat polymorphisms in the Neprilysin gene are not associated with sporadic Alzheimer's disease,
Neuroscience Letters, 320, 1-2, 105-107, 2002.
(DOI: 10.1016/S0304-3940(02)00057-5,   PubMed: 11849775,   Elsevier: Scopus)
83. H. Maruyama, Y. Izumi, M. Oda, T. Torii, Hiroyuki Morino, H. Toji, K. Sasaki, H. Terasawa, S. Nakamura and Hideshi Kawakami :
Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease,
Neurology, 57, 2, 337-339, 2001.
(DOI: 10.1212/WNL.57.2.337,   PubMed: 11468325,   Elsevier: Scopus)
84. Yuishin Izumi, Hiroyuki Morino, Masaya Oda, Hirofumi Maruyama, Fukashi Udaka, Masakuni Kameyama, Sigenobu Nakamura and Hideshi Kawakami :
Genetic studies in Parkinson's disease with an α-synuclein/NACP gene polymorphism in Japan,
Neuroscience Letters, 300, 2, 125-127, 2001.
(DOI: 10.1016/S0304-3940(01)01557-9,   PubMed: 11207390,   Elsevier: Scopus)

学術論文(紀要・その他):

1. Yuishin Izumi, Ryosuke Miyamoto, Hiroyuki Morino, Akio Yoshizawa, Kazuto Nishinaka, Fukashi Udaka, Masakuni Kameyama, Hirofumi Maruyama and Hideshi Kawakami :
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease,
Neurology, 80, 6, 600-601, 2013.
(DOI: 10.1212/WNL.0b013e3182815529,   PubMed: 23325900,   Elsevier: Scopus)

学術レター:

1. Takashi Kurashige, Hiroyuki Morino, Yukiko Matsuda, Tomoya Mukai, Tomomi Murao, Megumi Toko, Kodai Kume, Ryosuke Ohsawa, Tsuyoshi Torii, Hiroshi Tokinobu, Hirofumi Maruyama and Hideshi Kawakami :
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation,
Journal of Neurology, Neurosurgery, and Psychiatry, 91, 2, 220-222, 2019.
(DOI: 10.1136/jnnp-2019-321279,   PubMed: 31431468,   Elsevier: Scopus)
2. Kodai Kume, Hiroyuki Morino, Osamu Komure, Yukiko Matsuda, Ryosuke Ohsawa, Takashi Kurashige, Yuhei Kanaya, Yui Tada and Hideshi Kawakami :
C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8,
Journal of the Neurological Sciences, 402, 118-120, 2019.
(DOI: 10.1016/j.jns.2019.05.001,   PubMed: 31129264,   Elsevier: Scopus)
3. Naoyuki Hara, Tomohisa Nezu, Keitaro Kobatake, Hiroyuki Morino, Hideshi Kawakami and Hirofumi Maruyama :
Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide,
Journal of the Neurological Sciences, 396, 119-120, 2018.
(DOI: 10.1016/j.jns.2018.11.013,   PubMed: 30448718,   Elsevier: Scopus)
4. Yuishin Izumi, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Takashi Kurashige, Yoshimitsu Shimatani, Ryuji Kaji and Hideshi Kawakami :
Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis,
Geriatrics & Gerontology International, 18, 10, 1519-1520, 2018.
(DOI: 10.1111/ggi.13506,   PubMed: 30311446,   Elsevier: Scopus)
5. Ryosuke Miyamoto, Hidetaka Koizumi, Hiroyuki Morino, Toshitaka Kawarai, Hirofumi Maruyama, Yohei Mukai, Ai Miyashiro, Wataru Sako, Yuishin Izumi, Hideshi Kawakami and Ryuji Kaji :
DYT6 in Japan-genetic screening and clinical characteristics of the patients,
Movement Disorders, 29, 2, 278-280, 2013.
(DOI: 10.1002/mds.25745,   PubMed: 24227593,   Elsevier: Scopus)

総説・解説:

1. 森野 豊之, 丸山 博文 :
遺伝性ALSオーバービュー,
Clinical Neuroscience, 41, 3, 330-333, 2023年3月.
2. Tomoyasu Matsubara, Masaya Oda, Tetsuya Takahashi, Chigusa Watanabe, Yoshiro Tachiyama, Hiroyuki Morino, Hideshi Kawakami, Ryuji Kaji, Hirofumi Maruyama, Shigeo Murayama and Yuishin Izumi :
Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy,
Neuropathology, 39, 1, 47-53, Dec. 2018.
(DOI: 10.1111/neup.12523,   PubMed: 30511354,   Elsevier: Scopus)
3. Hirofumi Maruyama, 森野 豊之, Hideshi Kawakami :
Causative genes for amyotrophic lateral sclerosis,
脳と神経 - 神経研究の進歩, 68, 9, 1081-1086, 2016年9月.
(DOI: 10.11477/mf.1416200555,   PubMed: 27667492,   Elsevier: Scopus)

国際会議:

1. Koji Fujita, Shotaro Haji, N Atsuta, S Nagano, Y Kanazawa, Y Matsumoto, R Oki, Yusuke Osaki, Ryosuke Miyamoto, Hiroyuki Morino, A Arisawa, H Kawai, Y Sato, S Sakaguchi, K Yagi, T Kagimura, H Yanagawa, K Ishizawa, T Hamatani, H Mochizuki, M Doyu, G Sobue, M Harada and Yuishin Izumi :
EPIC-ALS: A phase 2 trial of EPI-589 in ALS,
35th International Symposium on ALS/MNS, Montreal, Dec. 2024.
2. Yuki Kuwano, Keyoumu Nazere and Hiroyuki Morino :
The biological role of m6A RNA methylation in cytoplasmic localization of TDP-43,
第65回日本神経学会学術大会/AOCN2024, May 2024.
3. Yusuke Osaki, Hiroyuki Nodera, Ryosuke Miyamoto, Hiroyuki Morino, M Chan, Ryuji Kaji and Yuishin Izumi :
Peripheral nerve excitability abnormality in spinocerebellar ataxia type 6,
Neuroscience 2023, Nov. 2023.
4. Shotaro Haji, Koji Fujita, Ryosuke Oki, Yusuke Osaki, Hiroyuki Morino, S Nagano, N Atsuta, Y Kanazawa, Y Matsumoto, A Arisawa, H Kawai, S Sakaguchi, K Yagi, T Hamatani, M Harada, G Sobue and Yuishin Izumi :
An Exploratoruy Trial of EPI-589 in Amyotrophic Lateral Sclerosis (EPIC-ALS),
Pan-Asian Consortium for Treatment and Research in ALS (PACTALS), Kuala Lumpur, Sep. 2023.

国内講演発表:

1. 中森 正博, 田金 裕一郎, 森野 豊之, 丸山 博文 :
SCA42の原因である変異型Cav3.1によるシナプス関連タンパク質輸送障害,
第19回パーキンソン病・運動障害疾患コングレス, 2025年7月.
2. Yuichiro Tagane, Masahiro Nakamori, Hiroyuki Morino and Hirofumi Maruyama :
Mutant Cav3.1 impairs synapse-associated protein transport in neurons,
第48回日本神経科学大会, Jul. 2025.
3. 井上 寛章, 行重 佐和香, 乾 友浩, 笹 聡一郎, 青山 万理子, 森野 豊之, 吉田 友紀子, 宮本 容子, 今井 芳枝, 滝沢 宏光 :
当院におけるHBOC血縁者に対するBRCA遺伝学的検査実施状況,
第31回日本遺伝性腫瘍学会学術集会, 2025年6月.
4. 桑野 由紀, 森野 豊之 :
大腸がん悪性化におけるマイクロRNAの新規調節機構の可能性,
第66回日本生化学会中国四国支部例会, 2025年5月.
5. Koji Fujita, T Itou, Y Okuzono, D Warude, S Miyakawa, Y Mihara, Naoko Matsui, Hiroyuki Morino, Y Kikukawa and Yuishin Izumi :
Th17 and effector CD8 T cells relate to disease progression in amyotrophic lateral sclerosis,
第66回日本神経学会学術大会, May 2025.
6. Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe and Naomichi Matsumoto :
Unraveling the Genetic Landscape of SCA27B: Nanopore Sequencing of GAA-FGF14 Ataxia in Japanese,
第66回日本神経学会学術大会, May 2025.
7. 鎌田 正紀, Nazere Keyoumu, 桑野 由紀, 森野 豊之 :
パーキンソン病患者の死因について,
第66回日本神経学会学術大会, 2025年5月.
8. Yuki Kuwano, Keyoumu Nazere, Masaki Kamada and Hiroyuki Morino :
m6A RNA methylation mediates cytoplasmic localization and pathogenicity of TDP-43,
第66回日本神経学会学術大会, May 2025.
9. 武藤 浩平, 宮本 亮介, 桑野 由紀, Nazere Keyoumu, 福本 竜也, 橘 このか, 山内 翔葵, 鎌田 正紀, 和泉 唯信, 森野 豊之 :
筋萎縮性側索硬化症(ALS)患者における新規リピート異常伸長の探索,
第66回日本神経学会学術大会, 2025年5月.
10. 桑野 由紀, Nazere Keyoumu, 大濱 菜々子, 谷口 颯月, 西田 憲生, 鎌田 正紀, 森野 豊之 :
RNA結合タンパク質TRA2BのmicroRNA新規生合成経路を介した大腸がん悪性化機構の解明,
第46回日本分子生物学会年会, 2024年11月.
11. Hiroshi Miyamoto, Ayuka Mineda, Sawaka Yukishige, Soichiroh Sasa, Kei Daizumoto, Tomoya Fukawa, Yasuyuki Okada, Yasuhiro Mitsui, Koichi Okamoto, Yasushi Sato, Hiroyuki Morino and Tetsuji Takayama :
Management of patients with presumed germline pathogenic variant from comprehensive genomic profiling tests.,
日本人類遺伝学会第69回大会, Oct. 2024.
12. 橘 このか, 宮本 亮介, 森野 豊之, 福本 竜也, 松本 真一, 目崎 高広, 小泉 英貴, 村瀬 永子, 向井 洋平, 星野 恭子, 浅沼 光太郎, 坂本 崇, 梶 龍兒, 和泉 唯信 :
Genetic and clinical features inn a cohort of Japanese patients with dystonia,
日本人類遺伝学会第69回大会, 2024年10月.
13. 行重 佐和香, 井上 寛章, 乾 友浩, 笹 聡一郎, 青山 万理子, 後藤 正和, 森野 豊之, 吉田 友紀子, 宮本 容子, 今井 芳枝, 滝沢 宏光 :
Two cases of surveillance using DWIBS in Li-Fraumeni syndrome,
日本人類遺伝学会第69回大会, 2024年10月.
14. 今井 芳枝, 井上 寛章, 宮本 容子, 吉田 友紀子, 森野 豊之, 湊 沙希, 笹 聡一郎, 行重 佐和香, 宮本 弘志 :
BRCA2 variant of uncertain significanceと診断された乳癌症例の血縁者に対するサーベイランスの一考,
第31回日本がん予防学会総会, 2024年9月.
15. 森野 豊之 :
いかに神経変性疾患の原因遺伝子を同定するか,
What's New in Neuroscience & Medicine 17th, 2024年7月.
16. 木原 直輝, 宮本 亮介, 橘 このか, 松原 知康, 藤田 浩司, 森野 豊之, 和泉 唯信 :
異常行動,失文法を呈しCSF1R 遺伝子の新規バリアントを認めたALSP/HDLSの1例,
第115回日本神経学会中国・四国地方会, 2024年6月.
17. 橘 このか, 宮本 亮介, 武藤 浩平, 福本 竜也, 松原 知康, 山内 翔葵, 中森 正博, 目崎 高広, 向井 洋平, 山城 正喬, 鈴木 啓生, 梶 龍兒, 森野 豊之, 和泉 唯信 :
本邦におけるANO3ジストニア (DYT-ANO3) の臨床的特徴,
第65回日本神経学会学術大会/AOCN2024, 2024年6月.
18. 山内 翔葵, 橘 このか, 宮本 亮介, 村瀬 永子, 武藤 浩平, 福本 竜也, 桑野 由紀, Nazere Keyoumu, 梶 龍兒, 森野 豊之, 和泉 唯信 :
本邦におけるVPS16ジストニア (DYT-VPS16) の臨床的特徴,
第65回日本神経学会学術大会/AOCN2024, 2024年6月.
19. Keyoumu Nazere, Konoka Tachibana, Yuki Kuwano, Ryosuke Miyamoto, Ryuji Kaji, Yuishin Izumi and Hiroyuki Morino :
The identification and functional analysis of novel variants in ADCY5- related movement disorders,
第65回日本神経学会学術大会/AOCN2024, May 2024.
20. 井上 寛章, 行重 佐和香, 乾 友浩, 笹 聡一郎, 青山 万理子, 森野 豊之, 吉田 友紀子, 宮本 容子, 今井 芳枝, 後藤 正和, 滝沢 宏光 :
当院乳癌患者におけるBRCA遺伝学的検査の現状,
第30回日本遺伝性腫瘍学会学術集会, 2024年5月.
21. 武藤 浩平, 宮本 亮介, 桑野 由紀, Nazere Keyoumu, 松原 知康, 福本 竜也, 橘 このか, 山内 翔葵, 和泉 唯信, 森野 豊之 :
筋萎縮性側索硬化症(ALS)患者における原因リピート伸長変異の探索,
第65回日本神経学会学術大会, 2024年5月.
22. 森野 豊之 :
ゲノム情報から診断/治療技術の開発へ,
第11回大学発ベンチャー創出研究会, 2024年2月.
23. 橘 このか, 宮本 亮介, 武藤 浩平, 福本 竜也, 山内 翔葵, 中森 正博, 梶 龍兒, 森野 豊之, 和泉 唯信 :
家族間で異なる表現型を呈したANO3ジストニアの1家系,
第114回日本神経学会中国・四国地方会, 2023年12月.
24. 桑野 由紀, Nazere Keyoumu, 西田 憲生, 森野 豊之 :
抗老化RNA uc.138 のm6Aメチル化修飾を介した大腸がん悪性化メカニズム,
第46回日本分子生物学会年会, 2023年12月.
25. 森野 豊之 :
ゲノム情報から診断/治療技術の開発へ,
ものづくり未来共創機構シンポジウム2023, 2023年12月.
26. 森野 豊之 :
ゲノム医療の進歩と徳島大学病院の取り組み,
2023年度第9回徳島市医師会学術講演会, 2023年12月.
27. 山田 英忠, 山崎 雄, 竹林 佳子, 矢澤 恭介, 笹西 美和子, 元田 敦子, 中森 正博, 森野 豊之, 高橋 哲也, 丸山 博文 :
加熱式タバコのエアロゾル吸入がアルツハイマー病マウスモデル中枢神経系に及ぼす影響,
第42回日本認知症学会学術集会, 2023年11月.
28. 森野 豊之 :
ゲノム技術の進歩と小児診療におけるゲノム医療,
第159回日本小児科学会徳島地方会学術集会, 2023年6月.
29. 行重 佐和香, 井上 寛章, 乾 友浩, 笹 聡一郎, 青山 万理子, 奥村 和正, 森野 豊之, 吉田 友紀子, 宮本 容子, 滝沢 宏光 :
BRCA遺伝学的検査の結果inconclusiveとなった3例,
第29回日本遺伝性腫瘍学会学術集会, 2023年6月.
30. 山内 翔葵, 宮本 亮介, 武藤 浩平, 桑野 由紀, Nazere Keyoumu, 西田 憲生, 橘 このか, 和泉 唯信, 森野 豊之 :
表現型に基づく優先順位付けを用いたALSの病的バリアント検索,
第64回日本神経学会学術大会, 2023年6月.
31. K Tachibana, Ryosuke Miyamoto, Hiroyuki Morino, T Fukumoto, S Matsumoto, T Mezaki, K Hoshino, Koutaro Asanuma, T Sakamoto, Ryuji Kaji and Yuishin Izumi :
Japan Dystonia Consortium, Genetical and clinical features in a cohort of Japanese patients with dystonia,
第64回日本神経学会学術大会, May 2023.
32. Konoka Tachibana, Ryosuke Miyamoto, Hiroyuki Morino, Tatsuya Fukumoto, Shinichi Matsumoto, Takahiro Mezaki, Kyoko Hoshino, Koutaro Asanuma, Takashi Sakamoto, Ryuji Kaji, Yuishin Izumi and Japan Dystonia Consortium :
Genetical and clinical features in a cohort of Japanese patients with dystonia,
第64回日本神経学会学術大会, May 2023.
33. 森野 豊之 :
徳島大学病院のゲノム医療センターについて,
難病医療講演会プログラムIRUD, 2023年1月.
34. Aya Gohji, Hiroyuki Morino, Asami Okada, Tatsuo Mori, Ken-ichi Suga, Yumiko Kotani, Rie Seyama, Yuri Uchiyama and Naomichi Matsumoto :
Coffin-siris syndrome with persistent open anterior fontanelle in a boy arising from a novel de novo ARID2 variant,
日本人類遺伝学会第67回大会, Dec. 2022.
35. 花田 健太, 大崎 裕亮, 宮本 亮介, 土師 正太郎, 森野 豊之, 和泉 唯信 :
新規のMORC2変異を認めたCharcot-Marie-Tooth病2Z型の1例,
第112回日本神経学会中国・四国地方会, 2022年12月.
36. 花田 健太, 大崎 裕亮, 宮本 亮介, 土師 正太郎, 森野 豊之, 和泉 唯信 :
MORC2新規変異を認めたCharcot-Marie-Tooth病2Z型の1例,
第33回日本末梢神経学会学術集会, 2022年9月.
37. 倉重 毅志, 森野 豊之, 村尾 智美, 和泉 唯信, 杉浦 智仁, 倉岡 和矢, 川上 秀史, 鳥居 剛, 丸山 博文 :
ALS患者の筋内神経束でのTDP-43凝集,
第8回日本筋学会学術集会, 2022年8月.
38. 武藤 浩平, 宮本 亮介, 沖 良祐, 宮﨑 由道, 藤井 大樹, 二宮 伸介, 秋山 倫之, 梶 龍兒, 森野 豊之, 和泉 唯信 :
Geniospasm4,
第63回日本神経学会学術大会, 2022年5月.
39. 武藤 浩平, 宮本 亮介, 沖 良祐, 宮﨑 由道, 藤井 大樹, 二宮 伸介, 秋山 倫之, 梶 龍兒, 森野 豊之, 和泉 唯信 :
本邦におけるGeniospasmの4家系,
第63回日本神経学会学術大会, 2022年5月.
40. 大崎 裕亮, 宮本 亮介, 森野 豊之, 和泉 唯信 :
Distal hereditary motor neuropathyを呈したMARS新規変異を有する1家系,
第63回日本神経学会学術大会, 2022年5月.
41. 桑野 由紀, 西田 憲生, 森野 豊之 :
RNA修飾を介した大腸がん細胞の抗老化スイッチの解明,
第44回日本分子生物学会年会, 2021年12月.
42. 森野 豊之 :
脊髄小脳変性症42型の原因と新規治療戦略,
徳島県市民公開講座難病医療講演会, 2021年10月.
43. Takashi Kurashige, Hiroyuki Morino, Hiroki Ueno, Tomomi Murao, Tomoaki Watanabe, Takao Hinoi, Ichizo Nishino, Tsuyoshi Torii and Hirofumi Maruyama :
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients,
日本人類遺伝学会第66回大会, Oct. 2021.
44. Naoyuki Hara, Hiroyuki Morino, Yukiko Matsuda, Kenichi Satoh, Kouichi Hashimoto, Hirofumi Maruyama and Hideshi Kawakami :
Zonisamide can ameliorate the conduction of the mutant CaV3.1 that causes spinocerebellar ataxia,
第62回日本神経学会学術大会, May 2021.
45. Yukiko Matsuda, Hiroyuki Morino, Yusuke Sotomaru, Takashi Kurashige, Hirofumi Maruyama and Hideshi Kawakami :
Transcriptomic analysis using model mice of spinocerebellar ataxia 42,
第62回日本神経学会学術大会, May 2021.

その他・研究会:

1. 松井 尚子, 山﨑 博輝, 森野 豊之, 山下 賢, 西野 一三, 梶 龍兒, 和泉 唯信 :
当施設における封入体筋炎の現状と今後の目標,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和6年度), 2025年1月.
2. 桑野 由紀, Nazere Keyoumu, 森野 豊之 :
m6A RNAメチル化がトリガーするALS原因因子TDP-43の細胞質封入体形成の調節機構,
先端酵素学研究所交流シンポジウム, 2024年8月.
3. 森野 豊之 :
神経筋疾患とゲノム情報,
第15回脳科学クラスターミニリトリート, 2024年2月.
4. 坂原 英皓, 内藤 裕之, 頼近 恭典, 田妻 卓, 中森 正博, 青木 志郎, 山崎 雄, 森野 豊之, 高橋 哲也, 丸山 博文 :
濃厚な家族歴を有し,パーキンソニズムを呈した50歳女性例,
第53回症例から学ぶ脳神経内科in広島, 2024年2月.
5. 松井 尚子, 山﨑 博輝, 高松 直子, 宮本 亮介, 森野 豊之, 西野 一三, 梶 龍兒, 和泉 唯信 :
当院で経験したIBM兄弟例,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和5年度), 2024年2月.
6. 森野 豊之 :
遺伝性神経疾患に対する遺伝カウンセリング,
遺伝性ATTRアミロイドーシスセミナー in 徳島, 2024年2月.
7. 森野 豊之 :
神経変性疾患の遺伝学的解析,
Fukuoka Neurology Research Forum, 2023年9月.
8. 森野 豊之 :
ゲノム技術の進歩と今後の医学,
2022遺伝・発生・再生クラスターミニリトリート, 2022年12月.
9. 森野 豊之 :
遺伝的要因から考えるパーキンソン病の発症機序と治療戦略,
第42回症例から学ぶ神経内科 in 広島, 2022年2月.

報告書:

1. 植野 美彦, 中村 豊, 森野 豊之, 酒井 徹, 安井 敏之, 川人 伸次, 尾崎 和美, 藤野 裕道, 一宮 昌司, 浅田 元子, 齊藤 隆仁, 上岡 麻衣子 :
令和6年度 徳島大学高等教育研究センターアドミッション部門 報告書,
令和6年度 徳島大学高等教育研究センターアドミッション部門 報告書, 2025年3月.

科学研究費補助金 (KAKEN Grants Database @ NII.ac.jp)

  • Necroptosisを介したALSの運動神経変性の病態機序と新規治療の探索 (研究課題/領域番号: 23K27518 )
  • パーキンソン病におけるα-シヌクレイン凝集機序の解明と新規治療への応用 (研究課題/領域番号: 23K06828 )
  • 新規ミトコンドリア蛋白質の構造異常によるALS病態の解析と評価モデル系の開発 (研究課題/領域番号: 23K24211 )
  • 脊髄小脳変性症モデルマウスを用いたCRISPR/Cas13による新しい核酸医療 (研究課題/領域番号: 19K07994 )
  • ヒト一倍体細胞を用いた遺伝子トラップ法によるTDP-43関連遺伝子の同定 (研究課題/領域番号: 16K15481 )
  • iPS細胞を用いたミトコンドリアDNA維持機構の破綻と神経変性への関与 (研究課題/領域番号: 15K15083 )
  • 遺伝学的アプローチによる小脳機能障害の解明 (研究課題/領域番号: 26242085 )
  • ALSにおけるOptineurinの神経細胞毒性に関する分子メカニズムの解明 (研究課題/領域番号: 23591246 )
  • 常染色体劣性脊髄小脳変性症の新規遺伝子 (研究課題/領域番号: 19390241 )
  • 研究者番号(10397953)による検索