Hayashi YK - Search Results

1

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

2

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.

Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK. Tagawa K, et al. Among authors: hayashi yk. J Neurol Sci. 2003 Jul 15;211(1-2):23-8. doi: 10.1016/s0022-510x(03)00041-8. J Neurol Sci. 2003. PMID: 12767493

3

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

4

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

Matsumoto H, Hayashi YK, Kim DS, Ogawa M, Murakami T, Noguchi S, Nonaka I, Nakazawa T, Matsuo T, Futagami S, Campbell KP, Nishino I. Matsumoto H, et al. Among authors: hayashi yk. Neuromuscul Disord. 2005 May;15(5):342-8. doi: 10.1016/j.nmd.2005.01.009. Neuromuscul Disord. 2005. PMID: 15833426

5

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.

Goto K, Nishino I, Hayashi YK. Goto K, et al. Among authors: hayashi yk. Neuromuscul Disord. 2006 Apr;16(4):256-61. doi: 10.1016/j.nmd.2006.01.008. Epub 2006 Mar 20. Neuromuscul Disord. 2006. PMID: 16545566

6

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

7

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

8

Limb-girdle muscular dystrophy due to emerin gene mutations.

Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I. Ura S, et al. Among authors: hayashi yk. Arch Neurol. 2007 Jul;64(7):1038-41. doi: 10.1001/archneur.64.7.1038. Arch Neurol. 2007. PMID: 17620497

9

Distal lipid storage myopathy due to PNPLA2 mutation.

Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Ohji S, Nomura K, Sugie H, Hayashi YK, Nishino I. Ohkuma A, et al. Among authors: hayashi yk. Neuromuscul Disord. 2008 Aug;18(8):671-4. doi: 10.1016/j.nmd.2008.06.382. Epub 2008 Jul 26. Neuromuscul Disord. 2008. PMID: 18657972

10

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).

Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I. Shalaby S, et al. Among authors: hayashi yk. Neuromuscul Disord. 2008 Dec;18(12):959-61. doi: 10.1016/j.nmd.2008.09.012. Epub 2008 Oct 25. Neuromuscul Disord. 2008. PMID: 18952429

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