Hayashi YK - Search Results

1

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

Mori-Yoshimura M, Okuma A, Oya Y, Fujimura-Kiyono C, Nakajima H, Matsuura K, Takemura A, Malicdan MC, Hayashi YK, Nonaka I, Murata M, Nishino I. Mori-Yoshimura M, et al. Among authors: hayashi yk. Clin Neurol Neurosurg. 2012 Jul;114(6):678-83. doi: 10.1016/j.clineuro.2011.10.040. Epub 2012 May 19. Clin Neurol Neurosurg. 2012. PMID: 22613877

2

Central core disease is due to RYR1 mutations in more than 90% of patients.

Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I. Wu S, et al. Among authors: hayashi yk. Brain. 2006 Jun;129(Pt 6):1470-80. doi: 10.1093/brain/awl077. Epub 2006 Apr 18. Brain. 2006. PMID: 16621918

3

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I. Malicdan MC, et al. Among authors: hayashi yk. Hum Mol Genet. 2007 Nov 15;16(22):2669-82. doi: 10.1093/hmg/ddm220. Epub 2007 Aug 18. Hum Mol Genet. 2007. PMID: 17704511

4

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: hayashi yk. 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

5

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.

Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I, Noguchi S, Nishino I. Sato I, et al. Among authors: hayashi yk. Neurology. 2008 Jan 8;70(2):114-22. doi: 10.1212/01.wnl.0000269792.63927.86. Epub 2007 May 30. Neurology. 2008. PMID: 17538032

6

Familial reducing body myopathy.

Ohsawa M, Liewluck T, Ogata K, Iizuka T, Hayashi Y, Nonaka I, Sasaki M, Nishino I. Ohsawa M, et al. Brain Dev. 2007 Mar;29(2):112-6. doi: 10.1016/j.braindev.2006.06.010. Epub 2006 Aug 21. Brain Dev. 2007. PMID: 16919903

7

Two novel CAV3 gene mutations in Japanese families.

Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I. Sugie K, et al. Among authors: hayashi yk. Neuromuscul Disord. 2004 Dec;14(12):810-4. doi: 10.1016/j.nmd.2004.08.008. Neuromuscul Disord. 2004. PMID: 15564037

8

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.

Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I. Tsai TC, et al. Among authors: hayashi yk. Neuromuscul Disord. 2005 Mar;15(3):245-52. doi: 10.1016/j.nmd.2004.12.005. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15725586

9

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].

Nishino I, Noguchi S, Murayama K, Ohkuma A, Kasahata N, Malicdan MC, Hayashi YK, Nonaka I. Nishino I, et al. Among authors: hayashi yk. Rinsho Shinkeigaku. 2005 Nov;45(11):943-5. Rinsho Shinkeigaku. 2005. PMID: 16447769 Review. Japanese.

10

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.

Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M, Takada F, Eriguchi M, Kotooka N, Campbell KP, Osawa M, Nishino I. Murakami T, et al. Among authors: hayashi yk. Ann Neurol. 2006 Nov;60(5):597-602. doi: 10.1002/ana.20973. Ann Neurol. 2006. PMID: 17036286

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