Works matching AU Aoki, Masashi

Results: 186

Temporomandibular joint dislocation during epileptic seizures in the epilepsy monitoring unit: A case report.

Published in:

Epileptic Disorders, 2023, v. 25, n. 6, p. 904, doi. 10.1002/epd2.20158

By:

Kubota, Takafumi;
Jin, Kazutaka;
Honoki, Keigo;
Soga, Temma;
Ukishiro, Kazushi;
Kakisaka, Yosuke;
Aoki, Masashi;
Nakasato, Nobukazu

Publication type:

Article

Dynamic electro‐clinical changes corresponding to immediate recovery after glucose administration from insulinoma‐induced hypoglycemia: Report of two cases.

Published in:

Epileptic Disorders, 2023, v. 25, n. 6, p. 900, doi. 10.1002/epd2.20155

By:

Konomatsu, Kazutoshi;
Kakisaka, Yosuke;
Jin, Kazutaka;
Ukishiro, Kazushi;
Sakata, Ayumi;
Shimogawa, Takafumi;
Morioka, Takato;
Kubota, Takafumi;
Soga, Temma;
Aoki, Masashi;
Nakasato, Nobukazu

Publication type:

Article

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain.

Published in:

Human Mutation, 2020, v. 41, n. 9, p. 1540, doi. 10.1002/humu.24036

By:

Izumi, Rumiko;
Takahashi, Toshiaki;
Suzuki, Naoki;
Niihori, Tetsuya;
Ono, Hiroya;
Nakamura, Naoko;
Katada, Shinichi;
Kato, Masaaki;
Warita, Hitoshi;
Tateyama, Maki;
Aoki, Yoko;
Aoki, Masashi

Publication type:

Article

Sensitivity and specificity of meningeal signs in patients with meningitis.

Published in:

Journal of General & Family Medicine, 2019, v. 20, n. 5, p. 193, doi. 10.1002/jgf2.268

By:

Akaishi, Tetsuya;
Kobayashi, Junpei;
Abe, Michiaki;
Ishizawa, Kota;
Nakashima, Ichiro;
Aoki, Masashi;
Ishii, Tadashi

Publication type:

Article

Successful treatment of intractable menstrual migraine with the traditional herbal medicine tokishakuyakusan.

Published in:

Journal of General & Family Medicine, 2019, v. 20, n. 3, p. 118, doi. 10.1002/jgf2.242

By:

Akaishi, Tetsuya;
Takayama, Shin;
Ohsawa, Minoru;
Kikuchi, Akiko;
Arita, Ryutaro;
Nakashima, Ichiro;
Aoki, Masashi;
Ishii, Tadashi

Publication type:

Article

Nationwide survey of patients with multisystem proteinopathy in Japan.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 4, p. 938, doi. 10.1002/acn3.52011

By:

Yamashita, Satoshi;
Takahashi, Yuji;
Hashimoto, Jun;
Murakami, Ayuka;
Nakamura, Ryoichi;
Katsuno, Masahisa;
Izumi, Rumiko;
Suzuki, Naoki;
Warita, Hitoshi;
Aoki, Masashi;
Mori‐Yoshimura, Madoka;
Matsumoto, Shinichi;
Sakai, Tetsuo;
Tanaka, Hiroyasu;
Ikeda, Masaki;
Kuru, Satoshi;
Tamaoka, Akira;
Taniguchi, Daisuke;
Sakae, Nobutaka;
Toyooka, Keiko

Publication type:

Article

Nuclear pore pathology underlying multisystem proteinopathy type 3‐related inclusion body myopathy.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 577, doi. 10.1002/acn3.51977

By:

Izumi, Rumiko;
Ikeda, Kensuke;
Niihori, Tetsuya;
Suzuki, Naoki;
Shirota, Matsuyuki;
Funayama, Ryo;
Nakayama, Keiko;
Warita, Hitoshi;
Tateyama, Maki;
Aoki, Yoko;
Aoki, Masashi

Publication type:

Article

Variants associated with Gaucher disease in multiple system atrophy.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 4, p. 417, doi. 10.1002/acn3.185

By:

Mitsui, Jun;
Matsukawa, Takashi;
Sasaki, Hidenao;
Yabe, Ichiro;
Matsushima, Masaaki;
Dürr, Alexandra;
Brice, Alexis;
Takashima, Hiroshi;
Kikuchi, Akio;
Aoki, Masashi;
Ishiura, Hiroyuki;
Yasuda, Tsutomu;
Date, Hidetoshi;
Ahsan, Budrul;
Iwata, Atsushi;
Goto, Jun;
Ichikawa, Yaeko;
Nakahara, Yasuo;
Momose, Yoshio;
Takahashi, Yuji

Publication type:

Article

Therapeutic effect of a novel curcumin derivative GT863 on a mouse model of amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022, v. 23, n. 7/8, p. 489, doi. 10.1080/21678421.2021.2012699

By:

Kato, Hajime;
Sato, Hiroyasu;
Okuda, Michiaki;
Wu, Jun;
Koyama, Shingo;
Izumi, Yasuhiko;
Waku, Tomonori;
Iino, Mitsuyoshi;
Aoki, Masashi;
Arawaka, Shigeki;
Ohta, Yasuyuki;
Ishizawa, Kenichi;
Kawasaki, Kanan;
Urano, Yasuomi;
Miyasaka, Tomohiro;
Noguchi, Noriko;
Kume, Toshiaki;
Akaike, Akinori;
Sugimoto, Hachiro;
Kato, Takeo

Publication type:

Article

Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene.

Published in:

2021

By:

Shibuya, Kazumoto;
Sawai, Setsu;
Sugiyama, Atsuhiko;
Koide, Mizuho;
Nishiyama, Ayumi;
Aoki, Masashi;
Kuwabara, Satoshi

Publication type:

Report

Confirmatory double-blind, parallel-group, placebo-controlled study of efficacy and safety of edaravone (MCI-186) in amyotrophic lateral sclerosis patients.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 610, doi. 10.3109/21678421.2014.959024

By:

Abe, Koji;
Itoyama, Yasuto;
Sobue, Gen;
Tsuji, Shoji;
Aoki, Masashi;
Doyu, Manabu;
Hamada, Chikuma;
Kondo, Kazuoki;
Yoneoka, Takatomo;
Akimoto, Makoto;
Yoshino, Hiide

Publication type:

Article

Pathology of myelin oligodendrocyte glycoprotein antibody-associated disease: a comparison with multiple sclerosis and aquaporin 4 antibody-positive neuromyelitis optica spectrum disorders.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1209749

By:

Yoshiki Takai;
Tatsuro Misu;
Kazuo Fujihara;
Masashi Aoki

Publication type:

Article

Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.

Published in:

European Neurology, 2020, v. 83, n. 3, p. 317, doi. 10.1159/000508346

By:

Samukawa, Makoto;
Nakamura, Naoko;
Hirano, Makito;
Morikawa, Miyuki;
Sakata, Hanami;
Nishino, Ichizo;
Izumi, Rumiko;
Suzuki, Naoki;
Kuroda, Hiroshi;
Shiga, Kensuke;
Saigoh, Kazumasa;
Aoki, Masashi;
Kusunoki, Susumu

Publication type:

Article

Safety, Tolerability, and Pharmacodynamics of Intrathecal Injection of Recombinant Human HGF (KP‐100) in Subjects With Amyotrophic Lateral Sclerosis: A Phase I Trial.

Published in:

Journal of Clinical Pharmacology, 2019, v. 59, n. 5, p. 677, doi. 10.1002/jcph.1355

By:

Warita, Hitoshi;
Kato, Masaaki;
Aoki, Masashi;
Asada, Ryuta;
Yamashita, Atsuko;
Hayata, Daichika;
Adachi, Kiichi

Publication type:

Article

Aberrant astrocytic expression of chondroitin sulfate proteoglycan receptors in a rat model of amyotrophic lateral sclerosis.

Published in:

Journal of Neuroscience Research, 2018, v. 96, n. 2, p. 222, doi. 10.1002/jnr.24127

By:

Shijo, Tomomi;
Warita, Hitoshi;
Suzuki, Naoki;
Kitajima, Yasuo;
Ikeda, Kensuke;
Akiyama, Tetsuya;
Ono, Hiroya;
Mitsuzawa, Shio;
Nishiyama, Ayumi;
Izumi, Rumiko;
Aoki, Masashi

Publication type:

Article

Disease progression of human SOD1 (G93A) transgenic ALS model rats.

Published in:

Journal of Neuroscience Research, 2006, v. 83, n. 1, p. 119, doi. 10.1002/jnr.20708

By:

Arifumi Matsumoto;
Yohei Okada;
Masanori Nakamichi;
Masaya Nakamura;
Yoshiaki Toyama;
Gen Sobue;
Makiko Nagai;
Masashi Aoki;
Yasuto Itoyama;
Hideyuki Okano

Publication type:

Article

Motoneuron degeneration after facial nerve avulsion is exacerbated in presymptomatic transgenic rats expressing human mutant Cu/Zn superoxide dismutase.

Published in:

Journal of Neuroscience Research, 2005, v. 82, n. 1, p. 63, doi. 10.1002/jnr.20621

By:

Ken Ikeda;
Masashi Aoki;
Yoko Kawazoe;
Tsuyoshi Sakamoto;
Yuichi Hayashi;
Aya Ishigaki;
Makiko Nagai;
Rieko Kamii;
Shinsuke Kato;
Yasuto Itoyama;
Kazuhiko Watabe

Publication type:

Article

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

Published in:

Nature Genetics, 2001, v. 29, n. 2, p. 189, doi. 10.1038/ng1001-189

By:

Moreira, Maria-Céu;
Barbot, Clara;
Tachi, Nobutada;
Kozuka, Naoki;
Uchida, Eiji;
Gibson, Toby;
Mendonça, Pedro;
Costa, Manuela;
Barros, José;
Yanagisawa, Takayuki;
Watanabe, Mitsunori;
Ikeda, Yoshio;
Aoki, Masashi;
Nagata, Tetsuya;
Coutinho, Paula;
Sequeiros, Jorge;
Koenig, Michel

Publication type:

Article

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

Published in:

Nature Genetics, 1998, v. 20, n. 1, p. 31, doi. 10.1038/1682

By:

Liu, Jing;
Aoki, Masashi;
Illa, Isabel;
Wu, Chenyan;
Fardeau, Michel;
Angelini, Corrado;
Serrano, Carmen;
Urtizberea, J. Andoni;
Hentati, Faycal;
Hamida, Mongi Ben;
Bohlega, Saeed;
Culper, Edward J.;
Amato, Anthony A.;
Bossie, Karen;
Oeltjen, Joshua;
Bejaoui, Khemissa;
McKenna-Yasek, Diane;
Hosler, Betsy A.;
Schurr, Erwin

Publication type:

Article

CD4-Positive T-Cell Responses to MOG Peptides in MOG Antibody-Associated Disease.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 8, p. 3606, doi. 10.3390/ijms26083606

By:

Ono, Hirohiko;
Misu, Tatsuro;
Namatame, Chihiro;
Matsumoto, Yuki;
Takai, Yoshiki;
Nishiyama, Shuhei;
Kuroda, Hiroshi;
Takahashi, Toshiyuki;
Nakashima, Ichiro;
Fujihara, Kazuo;
Aoki, Masashi

Publication type:

Article

Decoding Codon Bias: The Role of tRNA Modifications in Tissue-Specific Translation.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 2, p. 706, doi. 10.3390/ijms26020706

By:

Ando, Daisuke;
Rashad, Sherif;
Begley, Thomas J.;
Endo, Hidenori;
Aoki, Masashi;
Dedon, Peter C.;
Niizuma, Kuniyasu

Publication type:

Article

A case of dysferlinopathy presenting choreic movements.

Published in:

Movement Disorders, 2006, v. 21, n. 9, p. 1513, doi. 10.1002/mds.21027

By:

Takahashi, Toshiaki;
Aoki, Masashi;
Imai, Takashi;
Yoshioka, Masaru;
Konno, Hidehiko;
Higano, Shuichi;
Onodera, Yoshiaki;
Saito, Hiroshi;
Kimura, Itaru;
Itoyama, Yasuto

Publication type:

Article

Presence of six different lesion types suggests diverse mechanisms of tissue injury in neuromyelitis optica.

Published in:

Acta Neuropathologica, 2013, v. 125, n. 6, p. 815, doi. 10.1007/s00401-013-1116-7

By:

Misu, Tatsuro;
Höftberger, Romana;
Fujihara, Kazuo;
Wimmer, Isabella;
Takai, Yoshiki;
Nishiyama, Shuhei;
Nakashima, Ichiro;
Konno, Hidehiko;
Bradl, Monika;
Garzuly, Ferenc;
Itoyama, Yasuto;
Aoki, Masashi;
Lassmann, Hans

Publication type:

Article

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease.

Published in:

2011

By:

Ito, Hidefumi;
Fujita, Kengo;
Nakamura, Masataka;
Wate, Reika;
Kaneko, Satoshi;
Sasaki, Shoichi;
Yamane, Kiyomi;
Suzuki, Naoki;
Aoki, Masashi;
Shibata, Noriyuki;
Togashi, Shinji;
Kawata, Akihiro;
Mochizuki, Yoko;
Mizutani, Toshio;
Maruyama, Hirofumi;
Hirano, Asao;
Takahashi, Ryosuke;
Kawakami, Hideshi;
Kusaka, Hirofumi

Publication type:

Letter

Histological evidence of redox system breakdown caused by superoxide dismutase 1 (SOD1) aggregation is common to SOD1-mutated motor neurons in humans and animal models.

Published in:

Acta Neuropathologica, 2004, v. 107, n. 2, p. 149, doi. 10.1007/s00401-003-0791-1

By:

Kato, Shinsuke;
Saeki, Yusuke;
Aoki, Masashi;
Nagai, Makiko;
Ishigaki, Aya;
Itoyama, Yasuto;
Kato, Masako;
Asayama, Kohtaro;
Awaya, Akira;
Hirano, Asao;
Ohama, Eisaku

Publication type:

Article

Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma.

Published in:

Acta Neuropathologica, 2002, v. 104, n. 6, p. 615, doi. 10.1007/s00401-002-0593-x

By:

Saito, Akiko;
Higuchi, Itsuro;
Nakagawa, Masanori;
Saito, Mineki;
Hirata, Keiko;
Suehara, Masahito;
Yoshida, Yoshihiro;
Takahashi, Toshiaki;
Aoki, Masashi;
Osame, Mitsuhiro

Publication type:

Article

Establishment of a novel amyotrophic lateral sclerosis patient (TARDBP <sup>N345K/+</sup>)-derived brain microvascular endothelial cell model reveals defective Wnt/β-catenin signaling: investigating diffusion barrier dysfunction and immune cell interaction.

Published in:

Frontiers in Cell & Developmental Biology, 2024, p. 01, doi. 10.3389/fcell.2024.1357204

By:

Kinya Matsuo;
Jun Nagamatsu;
Kazuhiro Nagata;
Ryusei Umeda;
Takaya Shiota;
Satoru Morimoto;
Naoki Suzuki;
Masashi Aoki;
Hideyuki Okano;
Masayuki Nakamori;
Hideaki Nishihara

Publication type:

Article

White blood cell count profile in patients with physical complaints without known causes.

Published in:

SAGE Open Medicine, 2022, v. 10, p. 1, doi. 10.1177/20503121221105328

By:

Akaishi, Tetsuya;
Ishii, Tadashi;
Nakaya, Naoki;
Nakamura, Tomohiro;
Kogure, Mana;
Hatanaka, Rieko;
Itabashi, Fumi;
Kanno, Ikumi;
Aoki, Masashi;
Hozawa, Atsushi

Publication type:

Article

Malignant otitis externa presenting cerebral infarction from pseudoaneurysm: A case report and a review of the literature.

Published in:

Clinical Case Reports, 2022, v. 10, n. 2, p. 1, doi. 10.1002/ccr3.5276

By:

Koshiba, Yasutoshi;
Ikeda, Ryoukichi;
Suzuki, Jun;
Honkura, Yohei;
Funayama, Yukino;
Ikeda, Kensuke;
Warita, Hitoshi;
Aoki, Masashi;
Kawase, Tetsuaki;
Katori, Yukio

Publication type:

Article

Feeder-supported in vitro exercise model using human satellite cells from patients with sporadic inclusion body myositis.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05029-w

By:

Li, Yuqing;
Chen, Weijian;
Ogawa, Kazumi;
Koide, Masashi;
Takahashi, Tadahisa;
Hagiwara, Yoshihiro;
Itoi, Eiji;
Aizawa, Toshimi;
Tsuchiya, Masahiro;
Izumi, Rumiko;
Suzuki, Naoki;
Aoki, Masashi;
Kanzaki, Makoto

Publication type:

Article

White blood cell count profiles in multiple sclerosis during attacks before the initiation of acute and chronic treatments.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01942-8

By:

Akaishi, Tetsuya;
Misu, Tatsuro;
Fujihara, Kazuo;
Nakaya, Naoki;
Nakamura, Tomohiro;
Kogure, Mana;
Hatanaka, Rieko;
Itabashi, Fumi;
Kanno, Ikumi;
Takahashi, Toshiyuki;
Kuroda, Hiroshi;
Fujimori, Juichi;
Takai, Yoshiki;
Nishiyama, Shuhei;
Kaneko, Kimihiko;
Ishii, Tadashi;
Aoki, Masashi;
Nakashima, Ichiro;
Hozawa, Atsushi

Publication type:

Article

Serotonin Transporter Gene Polymorphism Modulates Activity and Connectivity within an Emotional Arousal Network of Healthy Men during an Aversive Visceral Stimulus.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123183

By:

Kilpatrick, Lisa A.;
Mayer, Emeran A.;
Labus, Jennifer S.;
Gupta, Arpana;
Hamaguchi, Toyohiro;
Mizuno, Tomoko;
Komuro, Hazuki;
Kano, Michiko;
Kanazawa, Motoyori;
Aoki, Masashi;
Fukudo, Shin

Publication type:

Article

Neural Substrates of Cognitive Subtypes in Parkinson's Disease: A 3-Year Longitudinal Study.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110547

By:

Shoji, Yumiko;
Nishio, Yoshiyuki;
Baba, Toru;
Uchiyama, Makoto;
Yokoi, Kayoko;
Ishioka, Toshiyuki;
Hosokai, Yoshiyuki;
Hirayama, Kazumi;
Fukuda, Hiroshi;
Aoki, Masashi;
Hasegawa, Takafumi;
Takeda, Atsushi;
Mori, Etsuro

Publication type:

Article

Insights into the Classification of Myasthenia Gravis.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106757

By:

Akaishi, Tetsuya;
Yamaguchi, Takuhiro;
Suzuki, Yasushi;
Nagane, Yuriko;
Suzuki, Shigeaki;
Murai, Hiroyuki;
Imai, Tomihiro;
Motomura, Masakatsu;
Fujihara, Kazuo;
Aoki, Masashi;
Utsugisawa, Kimiaki

Publication type:

Article

Corticotropin-Releasing Hormone Receptor 1 Gene Variants in Irritable Bowel Syndrome.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0042450

By:

Sato, Naoko;
Suzuki, Naoki;
Sasaki, Ayaka;
Aizawa, Emiko;
Obayashi, Takeshi;
Kanazawa, Motoyori;
Mizuno, Tomoko;
Kano, Michiko;
Aoki, Masashi;
Fukudo, Shin;
Slominski, Andrzej T.

Publication type:

Article

The AAA-ATPase VPS4 Regulates Extracellular Secretion and Lysosomal Targeting of α-Synuclein.

Published in:

PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029460

By:

Hasegawa, Takafumi;
Konno, Masatoshi;
Baba, Toru;
Sugeno, Naoto;
Kikuchi, Akio;
Kobayashi, Michiko;
Miura, Emiko;
Tanaka, Nobuyuki;
Tamai, Keiichi;
Furukawa, Katsutoshi;
Arai, Hiroyuki;
Mori, Fumiaki;
Wakabayashi, Koichi;
Aoki, Masashi;
Itoyama, Yasuto;
Takeda, Atsushi

Publication type:

Article

Human Hepatocyte Growth Factor Promotes Functional Recovery in Primates after Spinal Cord Injury.

Published in:

PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027706

By:

Kitamura, Kazuya;
Fujiyoshi, Kanehiro;
Yamane, Jun-ichi;
Toyota, Fumika;
Hikishima, Keigo;
Nomura, Tatsuji;
Funakoshi, Hiroshi;
Nakamura, Toshikazu;
Aoki, Masashi;
Toyama, Yoshiaki;
Okano, Hideyuki;
Nakamura, Masaya

Publication type:

Article

An Inducer of VGF Protects Cells against ER Stress-Induced Cell Death and Prolongs Survival in the Mutant SOD1 Animal Models of Familial ALS.

Published in:

PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015307

By:

Shimazawa, Masamitsu;
Tanaka, Hirotaka;
Ito, Yasushi;
Morimoto, Nobutaka;
Tsuruma, Kazuhiro;
Kadokura, Michinori;
Tamura, Shigeki;
Inoue, Teruyoshi;
Yamada, Mitsunori;
Takahashi, Hitoshi;
Warita, Hitoshi;
Aoki, Masashi;
Hara, Hideaki

Publication type:

Article

Loss of ALS2/Alsin Exacerbates Motor Dysfunction in a SOD1<sup>H46R</sup>-Expressing Mouse ALS Model by Disturbing Endolysosomal Trafficking.

Published in:

PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009805

By:

Hadano, Shinji;
Otomo, Asako;
Kunita, Ryota;
Suzuki-Utsunomiya, Kyoko;
Akatsuka, Akira;
Koike, Masato;
Aoki, Masashi;
Uchiyama, Yasuo;
Itoyama, Yasuto;
Ikeda, Joh-E

Publication type:

Article

Distal anterior compartment myopathy with early ankle contractures.

Published in:

Muscle & Nerve, 2007, v. 36, n. 4, p. 525, doi. 10.1002/mus.20836

By:

Saito, Hiroshi;
Suzuki, Naoki;
Ishiguro, Hideaki;
Hirota, Koichi;
Itoyama, Yasuto;
Takahashi, Toshiaki;
Aoki, Masashi

Publication type:

Article

Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.

Published in:

2024

By:

Ikeda, Kensuke;
Tamagake, Ayane;
Kubota, Takafumi;
Izumi, Rumiko;
Yamaguchi, Tatsuo;
Yanagi, Kumiko;
Misu, Tatsuro;
Aoki, Yoko;
Kaname, Tadashi;
Aoki, Masashi

Publication type:

Case Study

Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.

Published in:

Cerebellum, 2024, v. 23, n. 4, p. 1498, doi. 10.1007/s12311-024-01666-1

By:

Izumi, Rumiko;
Warita, Hitoshi;
Niihori, Tetsuya;
Furusawa, Yoshihiko;
Nakano, Misa;
Oya, Yasushi;
Kato, Kazuhiro;
Shiga, Takuro;
Ikeda, Kensuke;
Suzuki, Naoki;
Nishino, Ichizo;
Aoki, Yoko;
Aoki, Masashi

Publication type:

Article

p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case.

Published in:

Neuropathology, 2019, v. 39, n. 4, p. 286, doi. 10.1111/neup.12559

By:

Takeda, Takahiro;
Iijima, Mutsumi;
Shimizu, Yuko;
Yoshizawa, Hiroshi;
Miyashiro, Mayu;
Onizuka, Hiromi;
Yamamoto, Tomoko;
Nishiyama, Ayumi;
Suzuki, Naoki;
Aoki, Masashi;
Shibata, Noriyuki;
Kitagawa, Kazuo

Publication type:

Article

Development of a rat model of amyotrophic lateral sclerosis expressing a human SOD1 transgene.

Published in:

Neuropathology, 2005, v. 25, n. 4, p. 365, doi. 10.1111/j.1440-1789.2005.00611.x

By:

Aoki, Masashi;
Kato, Shinsuke;
Nagai, Makiko;
Itoyama, Yasuto

Publication type:

Article

Dysferlinopathy associated with rigid spine syndrome.

Published in:

Neuropathology, 2004, v. 24, n. 4, p. 341, doi. 10.1111/j.1440-1789.2004.00573.x

By:

Nagashima, Toshiko;
Chuma, Takayo;
Mano, Yukio;
Goto, Yu-ichi;
Hayashi, Yukiko K.;
Minami, Narihiro;
Nishino, Ichizo;
Nonaka, Ikuya;
Takahashi, Toshiaki;
Sawa, Hirofumi;
Aoki, Masashi;
Nagashima, Kazuo

Publication type:

Article

Anti-aquaporin-4 immune complex stimulates complement-dependent Th17 cytokine release in neuromyelitis optica spectrum disorders.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53661-5

By:

Nishiyama, Shuhei;
Seok, Jin Myong;
Wright, Amy E.;
Lotan, Itay;
Mikami, Takahisa;
Drosu, Natalia C.;
Bobrowski-Khoury, Natasha;
Anderson, Monique R.;
Bilodeau, Philippe A.;
Schindler, Patrick;
Paul, Friedemann;
Aoki, Masashi;
Yeaman, Michael R.;
Levy, Michael;
Behne, Jacinta M.;
Behne, Megan K.;
Bennett, Jeffrey L.;
Blaschke, Terrence F.;
Chitnis, Tanuja;
Cook, Lawrence J.

Publication type:

Article

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 653, doi. 10.1038/jhg.2015.93

By:

Suzuki, Naoki;
Aoki, Masashi;
Warita, Hitoshi;
Kato, Masaaki;
Mizuno, Hideki;
Shimakura, Naoko;
Akiyama, Tetsuya;
Furuya, Hirokazu;
Hokonohara, Toshihiro;
Iwaki, Akiko;
Togashi, Shinji;
Konno, Hidehiko;
Itoyama, Yasuto

Publication type:

Article

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 5, p. 259, doi. 10.1038/jhg.2013.9

By:

Izumi, Rumiko;
Niihori, Tetsuya;
Aoki, Yoko;
Suzuki, Naoki;
Kato, Masaaki;
Warita, Hitoshi;
Takahashi, Toshiaki;
Tateyama, Maki;
Nagashima, Takeshi;
Funayama, Ryo;
Abe, Koji;
Nakayama, Keiko;
Aoki, Masashi;
Matsubara, Yoichi

Publication type:

Article

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 4, p. 252, doi. 10.1038/jhg.2010.16

By:

Suzuki, Naoki;
Aoki, Masashi;
Warita, Hitoshi;
Kato, Masaaki;
Mizuno, Hideki;
Shimakura, Naoko;
Akiyama, Tetsuya;
Furuya, Hirokazu;
Hokonohara, Toshihiro;
Iwaki, Akiko;
Togashi, Shinji;
Konno, Hidehiko;
Itoyama, Yasuto

Publication type:

Article

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0

By:

Narumi, Yoko;
Aoki, Yoko;
Niihori, Tetsuya;
Sakurai, Masahiro;
Cavé, Hélène;
Verloes, Alain;
Nishio, Kimio;
Ohashi, Hirofumi;
Kurosawa, Kenji;
Okamoto, Nobuhiko;
Kawame, Hiroshi;
Mizuno, Seiji;
Kondoh, Tatsuro;
Addor, Marie-Claude;
Coeslier-Dieux, Anne;
Vincent-Delorme, Catherine;
Tabayashi, Koichi;
Aoki, Masashi;
Kobayashi, Tomoko;
Guliyeva, Afag

Publication type:

Article