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Items: 1 to 20 of 76

1.

No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY.

Horikawa Y, Hosomichi K, Enya M, Ishiura H, Suzuki Y, Tsuji S, Sugano S, Inoue I, Takeda J.

J Hum Genet. 2018 Apr 18. doi: 10.1038/s10038-018-0449-4. [Epub ahead of print]

PMID:
29670293
2.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S.

Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5.

PMID:
29507423
3.

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.

Tohnai G, Nakamura R, Sone J, Nakatochi M, Yokoi D, Katsuno M, Watanabe H, Watanabe H, Ito M, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Onodera O, Naruse H, Mitsui J, Takahashi Y, Goto J, Ishiura H, Morishita S, Yoshimura J, Doi K, Tsuji S, Nakashima K, Kaji R, Atsuta N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS).

Neurobiol Aging. 2018 Apr;64:158.e15-158.e19. doi: 10.1016/j.neurobiolaging.2017.12.005. Epub 2017 Dec 11.

PMID:
29398122
4.

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

Tanabe H, Higuchi Y, Yuan JH, Hashiguchi A, Yoshimura A, Ishihara S, Nozuma S, Okamoto Y, Matsuura E, Ishiura H, Mitsui J, Takashima R, Kokubun N, Maeda K, Asano Y, Sunami Y, Kono Y, Ishigaki Y, Yanamoto S, Fukae J, Kida H, Morita M, Tsuji S, Takashima H.

J Peripher Nerv Syst. 2018 Mar;23(1):40-48. doi: 10.1111/jns.12252. Epub 2018 Feb 14.

5.

A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient.

Kubota A, Ishiura H, Mitsui J, Sakuishi K, Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J.

Intern Med. 2018 Mar 15;57(6):877-882. doi: 10.2169/internalmedicine.9588-17. Epub 2017 Dec 8.

6.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.

Naruse H, Ishiura H, Mitsui J, Date H, Takahashi Y, Matsukawa T, Tanaka M, Ishii A, Tamaoka A, Hokkoku K, Sonoo M, Segawa M, Ugawa Y, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S.

Neurobiol Aging. 2018 Jan;61:255.e9-255.e16. doi: 10.1016/j.neurobiolaging.2017.08.030. Epub 2017 Sep 6.

PMID:
29033165
7.

Optineurin Pathology in the Spinal Cord of Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex Patients in Kii Peninsula, Japan.

Morimoto S, Hatsuta H, Motoyama R, Kokubo Y, Ishiura H, Tsuji S, Kuzuhara S, Murayama S.

Brain Pathol. 2017 Sep 27. doi: 10.1111/bpa.12558. [Epub ahead of print] No abstract available.

PMID:
28960710
8.

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

Kurihara M, Ishiura H, Sasaki T, Otsuka J, Hayashi T, Terao Y, Matsukawa T, Mitsui J, Kaneko J, Nishiyama K, Doi K, Yoshimura J, Morishita S, Shimizu J, Tsuji S.

Cerebellum. 2018 Apr;17(2):237-242. doi: 10.1007/s12311-017-0883-4.

PMID:
28895081
9.

Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology.

Ikenaga C, Kubota A, Kadoya M, Taira K, Uchio N, Hida A, Maeda MH, Nagashima Y, Ishiura H, Kaida K, Goto J, Tsuji S, Shimizu J.

Neurology. 2017 Sep 5;89(10):1060-1068. doi: 10.1212/WNL.0000000000004333. Epub 2017 Aug 9.

PMID:
28794251
10.

Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.

Ando M, Okamoto Y, Yoshimura A, Yuan JH, Hiramatsu Y, Higuchi Y, Hashiguchi A, Mitsui J, Ishiura H, Fukumura S, Matsushima M, Ochi N, Tsugawa J, Morishita S, Tsuji S, Takashima H.

Eur J Neurol. 2017 Oct;24(10):1274-1282. doi: 10.1111/ene.13360. Epub 2017 Aug 3.

PMID:
28771897
11.

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

Hosoe J, Kadowaki H, Miya F, Aizu K, Kawamura T, Miyata I, Satomura K, Ito T, Hara K, Tanaka M, Ishiura H, Tsuji S, Suzuki K, Takakura M, Boroevich KA, Tsunoda T, Yamauchi T, Shojima N, Kadowaki T.

Diabetes. 2017 Oct;66(10):2713-2723. doi: 10.2337/db17-0301. Epub 2017 Aug 1.

12.

Authors' reply to the Drs. Finsterer and Zarrouk-Mahjoub's comments for our case report.

Amiya E, Morita H, Ishiura H, Tsuji S, Komuro I.

Int J Cardiol. 2018 Mar 1;254:262. doi: 10.1016/j.ijcard.2017.06.111. Epub 2017 Jun 30. No abstract available.

PMID:
28697867
13.

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Ando M, Hashiguchi A, Okamoto Y, Yoshimura A, Hiramatsu Y, Yuan J, Higuchi Y, Mitsui J, Ishiura H, Umemura A, Maruyama K, Matsushige T, Morishita S, Nakagawa M, Tsuji S, Takashima H.

J Peripher Nerv Syst. 2017 Sep;22(3):191-199. doi: 10.1111/jns.12228. Epub 2017 Jul 30.

14.

Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing.

Eriguchi Y, Kuwabara H, Inai A, Kawakubo Y, Nishimura F, Kakiuchi C, Tochigi M, Ohashi J, Aoki N, Kato K, Ishiura H, Mitsui J, Tsuji S, Doi K, Yoshimura J, Morishita S, Shimada T, Furukawa M, Umekage T, Sasaki T, Kasai K, KanoMD PhD Y.

Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):712-723. doi: 10.1002/ajmg.b.32559. Epub 2017 Jun 13.

PMID:
28608572
15.

Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH.

Sato NS, Maekawa R, Ishiura H, Mitsui J, Naruse H, Tokushige SI, Sugie K, Tate G, Shimizu J, Goto J, Tsuji S, Shiio Y.

Ann Clin Transl Neurol. 2017 May 22;4(6):415-421. doi: 10.1002/acn3.417. eCollection 2017 Jun.

16.

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial.

Writing Group; Edaravone (MCI-186) ALS 19 Study Group.

Lancet Neurol. 2017 Jul;16(7):505-512. doi: 10.1016/S1474-4422(17)30115-1. Epub 2017 May 15.

PMID:
28522181
17.

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.

Yamashita T, Mitsui J, Shimozawa N, Takashima S, Umemura H, Sato K, Takemoto M, Hishikawa N, Ohta Y, Matsukawa T, Ishiura H, Yoshimura J, Doi K, Morishita S, Tsuji S, Abe K.

J Neurol Sci. 2017 Apr 15;375:424-429. doi: 10.1016/j.jns.2017.02.058. Epub 2017 Feb 27.

PMID:
28320181
18.

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease.

Harigaya Y, Matsukawa T, Fujita Y, Mizushima K, Ishiura H, Mitsui J, Morishita S, Shoji M, Ikeda Y, Tsuji S.

Neurol Genet. 2017 Feb 24;3(2):e138. doi: 10.1212/NXG.0000000000000138. eCollection 2017 Apr. No abstract available.

19.

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H.

Clin Genet. 2017 Sep;92(3):274-280. doi: 10.1111/cge.13002. Epub 2017 Apr 19.

PMID:
28244113
20.

Authors' response to "Compound heterozygous Fukutin mutation-related non-compaction" by Finsterer and Zarrouk-Mahjoub.

Amiya E, Morita H, Ishiura H, Tsuji S, Komuro I.

Int J Cardiol. 2017 Apr 15;233:102. doi: 10.1016/j.ijcard.2017.01.107. No abstract available.

PMID:
28235473

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