Pesquisa | BVS Violência e Saúde

1.

SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.

Ayhan, Fatma; Perez, Barbara A; Shorrock, Hannah K; Zu, Tao; Banez-Coronel, Monica; Reid, Tammy; Furuya, Hirokazu; Clark, H Brent; Troncoso, Juan C; Ross, Christopher A; Subramony, S H; Ashizawa, Tetsuo; Wang, Eric T; Yachnis, Anthony T; Ranum, Laura Pw.

EMBO J ; 37(19)2018 10 01.

Artigo em Inglês | MEDLINE | ID: mdl-30206144

2.

An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca²⁺ dynamics.

Odaka, Haruki; Numakawa, Tadahiro; Soga, Minami; Kido, Jun; Matsumoto, Shiro; Kajihara, Ryutaro; Okumiya, Toshika; Tani, Naoki; Tanoue, Yuki; Fukuda, Takaichi; Furuya, Hirokazu; Inoue, Takafumi; Era, Takumi.

Neurobiol Dis ; 152: 105279, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-33516873

3.

Longitudinal Changes of Tongue Thickness and Tongue Pressure in Neuromuscular Disorders.

Umemoto, George; Fujioka, Shinsuke; Arahata, Hajime; Sakae, Nobutaka; Sasagasako, Naokazu; Toda, Mine; Furuya, Hirokazu; Tsuboi, Yoshio.

BMC Neurol ; 21(1): 302, 2021 Aug 05.

Artigo em Inglês | MEDLINE | ID: mdl-34353291

4.

Identification of a pre-possible multiple system atrophy phase.

Osaki, Yasushi; Morita, Yukari; Miyamoto, Yuka; Ohtsuru, Sho; Shogase, Tomohiro; Furushima, Tomomi; Furuya, Hirokazu.

Acta Neurol Scand ; 143(3): 313-317, 2021 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-33111976

5.

Symmetrical glial hyperplasia in the brainstem of fibrodysplasia ossificans progressiva.

Mori, Shinichiro; Suzuki, Satoshi O; Honda, Hiroyuki; Hamasaki, Hideomi; Sakae, Nobutaka; Sasagasako, Naokazu; Furuya, Hirokazu; Iwaki, Toru.

Neuropathology ; 41(2): 146-151, 2021 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-33404144

6.

Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.

Mori, Shinichiro; Honda, Hiroyuki; Hamasaki, Hideomi; Sasagasako, Naokazu; Suzuki, Satoshi O; Furuya, Hirokazu; Taniwaki, Takayuki; Iwaki, Toru.

Neuropathology ; 41(4): 253-265, 2021 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-34031922

7.

A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.

Miyagawa, Taku; Khor, Seik-Soon; Toyoda, Hiromi; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Ariyoshi, Yu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Ikegami, Azusa; Wada, Yamato; Takami, Masanori; Higashiyama, Yuichi; Miyake, Ryoko; Kondo, Hideaki; Fujimura, Yota; Tamura, Yoshiyuki; Taniyama, Yukari; Omata, Naoto; Tanaka, Yuji; Moriya, Shunpei; Furuya, Hirokazu; Kato, Mitsuhiro; Kawamura, Yoshiya; Otowa, Takeshi; Miyashita, Akinori; Kojima, Hiroto; Saji, Hiroh; Shimada, Mihoko; Yamasaki, Maria; Kobayashi, Takumi; Misawa, Rumi; Shigematsu, Yosuke; Kuwano, Ryozo; Sasaki, Tsukasa; Ishigooka, Jun; Wada, Yuji; Tsuruta, Kazuhito; Chiba, Shigeru; Tanaka, Fumiaki; Yamada, Naoto; Okawa, Masako; Kuroda, Kenji; Kume, Kazuhiko.

J Hum Genet ; 63(12): 1259-1267, 2018 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-30266950

8.

New susceptibility variants to narcolepsy identified in HLA class II region.

Miyagawa, Taku; Toyoda, Hiromi; Hirataka, Akane; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Imai, Makoto; Fujimura, Yota; Tamura, Yoshiyuki; Ikegami, Azusa; Wada, Yamato; Moriya, Shunpei; Furuya, Hirokazu; Kato, Mitsuhiro; Omata, Naoto; Kojima, Hiroto; Kashiwase, Koichi; Saji, Hiroh; Khor, Seik-Soon; Yamasaki, Maria; Wada, Yuji; Ishigooka, Jun; Kuroda, Kenji; Kume, Kazuhiko; Chiba, Shigeru; Yamada, Naoto; Okawa, Masako; Hirata, Koichi; Uchimura, Naohisa; Shimizu, Tetsuo; Inoue, Yuichi; Honda, Yutaka; Mishima, Kazuo; Honda, Makoto; Tokunaga, Katsushi.

Hum Mol Genet ; 24(3): 891-8, 2015 Feb 01.

Artigo em Inglês | MEDLINE | ID: mdl-25256355

9.

HPGCD outperforms HPBCD as a potential treatment for Niemann-Pick disease type C during disease modeling with iPS cells.

Soga, Minami; Ishitsuka, Yoichi; Hamasaki, Makoto; Yoneda, Kaori; Furuya, Hirokazu; Matsuo, Muneaki; Ihn, Hironobu; Fusaki, Noemi; Nakamura, Kimitoshi; Nakagata, Naomi; Endo, Fumio; Irie, Tetsumi; Era, Takumi.

Stem Cells ; 33(4): 1075-88, 2015 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-25522247

10.

A polymorphism in CCR1/CCR3 is associated with narcolepsy.

Toyoda, Hiromi; Miyagawa, Taku; Koike, Asako; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Imai, Makoto; Fujimura, Yota; Tamura, Yoshiyuki; Ikegami, Azusa; Wada, Yamato; Moriya, Shunpei; Furuya, Hirokazu; Takeuchi, Masaki; Kirino, Yohei; Meguro, Akira; Remmers, Elaine F; Kawamura, Yoshiya; Otowa, Takeshi; Miyashita, Akinori; Kashiwase, Koichi; Khor, Seik-Soon; Yamasaki, Maria; Kuwano, Ryozo; Sasaki, Tsukasa; Ishigooka, Jun; Kuroda, Kenji; Kume, Kazuhiko; Chiba, Shigeru; Yamada, Naoto; Okawa, Masako; Hirata, Koichi; Mizuki, Nobuhisa; Uchimura, Naohisa; Shimizu, Tetsuo; Inoue, Yuichi; Honda, Yutaka; Mishima, Kazuo; Honda, Makoto; Tokunaga, Katsushi.

Brain Behav Immun ; 49: 148-55, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25986216

11.

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Ishiura, Hiroyuki; Takahashi, Yuji; Hayashi, Toshihiro; Saito, Kayoko; Furuya, Hirokazu; Watanabe, Mitsunori; Murata, Miho; Suzuki, Mikiya; Sugiura, Akira; Sawai, Setsu; Shibuya, Kazumoto; Ueda, Naohisa; Ichikawa, Yaeko; Kanazawa, Ichiro; Goto, Jun; Tsuji, Shoji.

J Hum Genet ; 59(3): 163-72, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-24451228

12.

Pathogenic mutation of ALK2 inhibits induced pluripotent stem cell reprogramming and maintenance: mechanisms of reprogramming and strategy for drug identification.

Hamasaki, Makoto; Hashizume, Yoshinobu; Yamada, Yoshinori; Katayama, Tomohiko; Hohjoh, Hirohiko; Fusaki, Noemi; Nakashima, Yasuharu; Furuya, Hirokazu; Haga, Nobuhiko; Takami, Yoichiro; Era, Takumi.

Stem Cells ; 30(11): 2437-49, 2012 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-22949078

13.

A high-throughput screening assay using Krabbe disease patient cells.

Ribbens, Jameson; Whiteley, Grace; Furuya, Hirokazu; Southall, Noel; Hu, Xin; Marugan, Juan; Ferrer, Marc; Maegawa, Gustavo H B.

Anal Biochem ; 434(1): 15-25, 2013 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-23138179

14.

Tailor-made RNAi knockdown against triplet repeat disease-causing alleles.

Takahashi, Masaki; Watanabe, Shoko; Murata, Miho; Furuya, Hirokazu; Kanazawa, Ichiro; Wada, Keiji; Hohjoh, Hirohiko.

Proc Natl Acad Sci U S A ; 107(50): 21731-6, 2010 Dec 14.

Artigo em Inglês | MEDLINE | ID: mdl-21098280

15.

[Belladonna (Atropine), in The Labours of Hercules].

Furuya, Hirokazu.

Brain Nerve ; 75(12): 1325-1329, 2023 Dec.

Artigo em Japonês | MEDLINE | ID: mdl-38097222

16.

[A case of non-thymomatous refractory anti-AChR, Kv1.4 and titin antibodies positive generalized myasthenia gravis successfully treated by extended thymectomy].

Shogase, Tomohiro; Ohtsuru, Sho; Morita, Yukari; Osaki, Yasushi; Furuya, Hirokazu; Anayama, Takashi.

Rinsho Shinkeigaku ; 63(2): 92-96, 2023 Feb 25.

Artigo em Japonês | MEDLINE | ID: mdl-36725010

17.

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy.

Yamashita, Yoshihiro; Matsuura, Tohru; Shinmi, Jun; Amakusa, Yoshinobu; Masuda, Akio; Ito, Mikako; Kinoshita, Masanobu; Furuya, Hirokazu; Abe, Koji; Ibi, Tohru; Sahashi, Ko; Sahashi, Koo; Ohno, Kinji.

J Hum Genet ; 57(6): 368-74, 2012 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-22513715

18.

Dysphagia in Duchenne muscular dystrophy versus myotonic dystrophy type 1.

Umemoto, George; Furuya, Hirokazu; Kitashima, Akio; Sakai, Mitsuaki; Arahata, Hajime; Kikuta, Toshihiro.

Muscle Nerve ; 46(4): 490-5, 2012 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-22987688

19.

Association of right precuneus compression with apathy in idiopathic normal pressure hydrocephalus: a pilot study.

Chadani, Yoshihiro; Kashibayashi, Tetsuo; Yamamoto, Takahiro; Tsuda, Atsushi; Fujito, Ryoko; Akamatsu, Masanori; Kamimura, Naoto; Takahashi, Ryuichi; Yamagami, Takuji; Furuya, Hirokazu; Ueba, Tetsuya; Saito, Motoaki; Inoue, Keiji; Kazui, Hiroaki.

Sci Rep ; 12(1): 20428, 2022 11 28.

Artigo em Inglês | MEDLINE | ID: mdl-36443371

20.

A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia.

Miyagawa, Taku; Tanaka, Susumu; Shimada, Mihoko; Sakai, Noriaki; Tanida, Kotomi; Kotorii, Nozomu; Kotorii, Tatayu; Ariyoshi, Yu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kanbayashi, Takashi; Imanishi, Aya; Ikegami, Azusa; Kamei, Yuichi; Hida, Akiko; Wada, Yamato; Miyamoto, Masayuki; Takami, Masanori; Kondo, Hideaki; Tamura, Yoshiyuki; Taniyama, Yukari; Omata, Naoto; Mizuno, Tomoyuki; Moriya, Shunpei; Furuya, Hirokazu; Kato, Mitsuhiro; Kato, Kayoko; Ishigooka, Jun; Tsuruta, Kazuhito; Chiba, Shigeru; Yamada, Naoto; Okawa, Masako; Hirata, Koichi; Kuroda, Kenji; Kume, Kazuhiko; Uchimura, Naohisa; Kitada, Masaaki; Kodama, Tohru; Inoue, Yuichi; Nishino, Seiji; Mishima, Kazuo; Tokunaga, Katsushi; Honda, Makoto.

NPJ Genom Med ; 7(1): 29, 2022 Apr 12.

Artigo em Inglês | MEDLINE | ID: mdl-35414074

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