Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.

Yamashita, Yoshihiro; Matsuura, Tohru; Kurosaki, Tatsuaki; Amakusa, Yoshinobu; Kinoshita, Masanobu; Ibi, Tohru; Sahashi, Ko; Ohno, Kinji.

Neurobiol Dis ; 69: 200-5, 2014 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-24878509

2.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

Takahashi, Toshiaki; Aoki, Masashi; Suzuki, Naoki; Tateyama, Maki; Yaginuma, Chikako; Sato, Hitomi; Hayasaka, Miho; Sugawara, Hitomi; Ito, Mariko; Abe-Kondo, Emi; Shimakura, Naoko; Ibi, Tohru; Kuru, Satoshi; Wakayama, Tadashi; Sobue, Gen; Fujii, Naoki; Saito, Toshio; Matsumura, Tsuyoshi; Funakawa, Itaru; Mukai, Eiichiro; Kawanami, Toru; Morita, Mitsuya; Yamazaki, Mineo; Hasegawa, Takashi; Shimizu, Jun; Tsuji, Shoji; Kuzuhara, Shigeki; Tanaka, Hiroyasu; Yoshioka, Masaru; Konno, Hidehiko; Onodera, Hiroshi; Itoyama, Yasuto.

J Neurol Neurosurg Psychiatry ; 84(4): 433-40, 2013 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23243261

3.

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

4.

[Dyskinesia-hyperpyrexia syndrome in a patient with Parkinson's disease: a case report].

Taguchi, Soutarou; Niwa, Jun-ichi; Ibi, Tohru; Doyu, Manabu.

Rinsho Shinkeigaku ; 55(3): 182-4, 2015.

Artigo em Japonês | MEDLINE | ID: mdl-25786757

5.

Gastric dysmotility associated with accumulation of mitochondrial A3243G mutation in the stomach.

Fujii, Akihiro; Yoneda, Makoto; Ohtani, Masahiro; Nakagawa, Hiroto; Kumano, Takanori; Hayashi, Koji; Muramatsu, Atsushi; Takabatake, Satoru; Ibi, Tohru; Sahashi, Ko; Azuma, Takeshi; Kuriyama, Masaru.

Intern Med ; 43(12): 1126-30, 2004 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-15645645

6.

Therapeutic potential of pyruvate therapy for mitochondrial diseases.

Tanaka, Masashi; Nishigaki, Yutaka; Fuku, Noriyuki; Ibi, Tohru; Sahashi, Ko; Koga, Yasutoshi.

Mitochondrion ; 7(6): 399-401, 2007 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-17881297

7.

A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.

Kokunai, Yosuke; Goto, Keigo; Kubota, Tomoya; Fukuoka, Takaaki; Sakoda, Saburo; Ibi, Tohru; Doyu, Manabu; Mochizuki, Hideki; Sahashi, Ko; Takahashi, Masanori P.

Neurosci Lett ; 519(1): 67-72, 2012 Jun 21.

Artigo em Inglês | MEDLINE | ID: mdl-22617007

8.

Open-label trial and randomized, double-blind, placebo-controlled, crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies.

Ito, Mikako; Ibi, Tohru; Sahashi, Ko; Ichihara, Masashi; Ito, Masafumi; Ohno, Kinji.

Med Gas Res ; 1(1): 24, 2011 Oct 03.

Artigo em Inglês | MEDLINE | ID: mdl-22146674

9.

Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

Nishigaki, Yutaka; Ueno, Hitomi; Coku, Jorida; Koga, Yasutoshi; Fujii, Tatsuya; Sahashi, Ko; Nakano, Kazutoshi; Yoneda, Makoto; Nonaka, Michiko; Tang, Linya; Liou, Chia-Wei; Paquis-Flucklinger, Veronique; Harigaya, Yasuo; Ibi, Tohru; Goto, Yu-ichi; Hosoya, Hiroko; DiMauro, Salvatore; Hirano, Michio; Tanaka, Masashi.

Mitochondrion ; 10(3): 300-8, 2010 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-20064630

10.

[Dysphagia].

Ibi, Tohru; Nakao, Naoki; Sahashi, Ko.

Nihon Rinsho ; 60 Suppl 4: 556-8, 2002 Apr.

Artigo em Japonês | MEDLINE | ID: mdl-12013941

11.

[Liver failure].

Ibi, Tohru; Nakao, Naoki; Sahashi, Ko.

Nihon Rinsho ; 60 Suppl 4: 559-62, 2002 Apr.

Artigo em Japonês | MEDLINE | ID: mdl-12013942

12.

[Markedly improving sarcoid cervical myelopathy after the diagnostic treatment of prednisolone, associated with highly spondylotic spines].

Hirose, Kazunori; Hoshino, Akira; Fukuoka, Takaaki; Takahashi, Masahiko; Izumi, Masayuki; Nakao, Naoki; Ibi, Tohru; Sahashi, Ko.

Nihon Naika Gakkai Zasshi ; 93(7): 1436-8, 2004 Jul 10.

Artigo em Japonês | MEDLINE | ID: mdl-15298281

13.

MM1-type sporadic Creutzfeldt-Jakob disease with unusually prolonged disease duration presenting with panencephalopathic-type pathology.

Hoshino, Akira; Iwasaki, Yasushi; Izumi, Masayuki; Kimura, Shinya; Ibi, Tohru; Kitamoto, Tetsuyuki; Yoshida, Mari; Hashizume, Yoshio; Sahashi, Ko.

Neuropathology ; 28(3): 326-32, 2008 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-18248577

14.

Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria.

Tanaka, Masashi; Borgeld, Harm-Jan; Zhang, Jin; Muramatsu, Shin-ichi; Gong, Jian-Sheng; Yoneda, Makoto; Maruyama, Wakako; Naoi, Makoto; Ibi, Tohru; Sahashi, Ko; Shamoto, Masayo; Fuku, Noriyuki; Kurata, Miyuki; Yamada, Yoshiji; Nishizawa, Kumi; Akao, Yukihiro; Ohishi, Nobuko; Miyabayashi, Shigeaki; Umemoto, Hiraku; Muramatsu, Tatsuo; Furukawa, Koichi; Kikuchi, Akihiko; Nakano, Imaharu; Ozawa, Keiya; Yagi, Kunio.

J Biomed Sci ; 9(6 Pt 1): 534-41, 2002.

Artigo em Inglês | MEDLINE | ID: mdl-12372991

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