Nishino I - Search Results

1

A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.

Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH. Kim H, et al. Among authors: nishino i. Muscle Nerve. 2010 Jun;41(6):879-82. doi: 10.1002/mus.21614. Muscle Nerve. 2010. PMID: 20513107

2

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Takahashi M, Yamamoto A, Takano K, Sudo A, Wada T, Goto Y, Nishino I, Saitoh S. Takahashi M, et al. Among authors: nishino i. Ann Neurol. 2002 Jul;52(1):122-5. doi: 10.1002/ana.10235. Ann Neurol. 2002. PMID: 12112061

3

Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.

Echaniz-Laguna A, Mohr M, Epailly E, Nishino I, Charron P, Richard P, Guiraud-Chaumeil C, Tranchant C. Echaniz-Laguna A, et al. Among authors: nishino i. Muscle Nerve. 2006 Mar;33(3):393-7. doi: 10.1002/mus.20471. Muscle Nerve. 2006. PMID: 16372318

4

Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.

Dougu N, Joho S, Shan L, Shida T, Matsuki A, Uese K, Hirono K, Ichida F, Tanaka K, Nishino I, Inoue H. Dougu N, et al. Among authors: nishino i. Circ J. 2009 Feb;73(2):376-80. doi: 10.1253/circj.cj-08-0241. Epub 2008 Dec 5. Circ J. 2009. PMID: 19057086 Free article. Review.

5

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I. Cho A, et al. Among authors: nishino i. J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):914-7. doi: 10.1136/jnnp-2013-305587. Epub 2013 Sep 11. J Neurol Neurosurg Psychiatry. 2014. PMID: 24027297

6

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.

Yonekawa T, Malicdan MC, Cho A, Hayashi YK, Nonaka I, Mine T, Yamamoto T, Nishino I, Noguchi S. Yonekawa T, et al. Among authors: nishino i. Brain. 2014 Oct;137(Pt 10):2670-9. doi: 10.1093/brain/awu210. Epub 2014 Jul 24. Brain. 2014. PMID: 25062695 Free PMC article.

7

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.

Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, Kishimoto T, Shima M, Saito Y, Nishino I, Ueno S. Sugie K, et al. Among authors: nishino i. Neuropathology. 2016 Dec;36(6):561-565. doi: 10.1111/neup.12307. Epub 2016 May 5. Neuropathology. 2016. PMID: 27145725

8

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.

Cho A, Christine M, Malicdan V, Miyakawa M, Nonaka I, Nishino I, Noguchi S. Cho A, et al. Among authors: nishino i. Hum Mol Genet. 2017 Aug 15;26(16):3081-3093. doi: 10.1093/hmg/ddx192. Hum Mol Genet. 2017. PMID: 28505249 Free PMC article.

9

Characterization of Danon disease in a male patient and his affected mother.

Sugie K, Koori T, Yamamoto A, Ogawa M, Hirano M, Inoue K, Nonaka I, Nishino I. Sugie K, et al. Among authors: nishino i. Neuromuscul Disord. 2003 Nov;13(9):708-11. doi: 10.1016/s0960-8966(03)00105-6. Neuromuscul Disord. 2003. PMID: 14561493

10

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

Musumeci O, Rodolico C, Nishino I, Di Guardo G, Migliorato A, Aguennouz M, Mazzeo A, Messina C, Vita G, Toscano A. Musumeci O, et al. Among authors: nishino i. Neuromuscul Disord. 2005 Jun;15(6):409-11. doi: 10.1016/j.nmd.2005.02.008. Epub 2005 Apr 19. Neuromuscul Disord. 2005. PMID: 15907287

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