Murayama K - Search Results

1

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.

Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K. Montassir H, et al. Among authors: murayama k. Brain Dev. 2015 Aug;37(7):719-24. doi: 10.1016/j.braindev.2014.10.013. Epub 2014 Nov 18. Brain Dev. 2015. PMID: 25466440

2

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.

Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T. Okano Y, et al. Among authors: murayama k. Am J Hum Genet. 2001 Apr;68(4):1036-42. doi: 10.1086/319512. Epub 2001 Feb 23. Am J Hum Genet. 2001. PMID: 11231902 Free PMC article.

3

Clinicopathological features of genetically confirmed Danon disease.

Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I. Sugie K, et al. Among authors: murayama k. Neurology. 2002 Jun 25;58(12):1773-8. doi: 10.1212/wnl.58.12.1773. Neurology. 2002. PMID: 12084876 Review.

4

Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.

Ishikawa H, Sugie K, Murayama K, Ito M, Minami N, Nishino I, Nonaka I. Ishikawa H, et al. Among authors: murayama k. Neurology. 2002 Sep 24;59(6):920-3. doi: 10.1212/wnl.59.6.920. Neurology. 2002. PMID: 12297580

5

Ullrich disease due to deficiency of collagen VI in the sarcolemma.

Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Noguchi S, Hayashi YK, Nonaka I, Nishino I. Ishikawa H, et al. Among authors: murayama k. Neurology. 2004 Feb 24;62(4):620-3. doi: 10.1212/01.wnl.0000113023.84421.00. Neurology. 2004. PMID: 14981181

6

A new diagnostic test for VLCAD deficiency using immunohistochemistry.

Ohashi Y, Hasegawa Y, Murayama K, Ogawa M, Hasegawa T, Kawai M, Sakata N, Yoshida K, Yarita H, Imai K, Kumagai I, Murakami K, Hasegawa H, Noguchi S, Nonaka I, Yamaguchi S, Nishino I. Ohashi Y, et al. Among authors: murayama k. Neurology. 2004 Jun 22;62(12):2209-13. doi: 10.1212/01.wnl.0000130486.54839.15. Neurology. 2004. PMID: 15210884

7

Gene expression analyses in X-linked myotubular myopathy.

Noguchi S, Fujita M, Murayama K, Kurokawa R, Nishino I. Noguchi S, et al. Among authors: murayama k. Neurology. 2005 Sep 13;65(5):732-7. doi: 10.1212/01.wnl.0000174625.67484.4d. Neurology. 2005. PMID: 16157907

8

Molecular pathomechanism of distal myopathy with rimmed vacuoles.

Nishino I, Malicdan MC, Murayama K, Nonaka I, Hayashi YK, Noguchi S. Nishino I, et al. Among authors: murayama k. Acta Myol. 2005 Oct;24(2):80-3. Acta Myol. 2005. PMID: 16550921 Review.

9

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.

Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I. Okada M, et al. Among authors: murayama k. Neurology. 2007 Sep 4;69(10):1035-42. doi: 10.1212/01.wnl.0000271387.10404.4e. Neurology. 2007. PMID: 17785673

10

Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency.

Murayama K, Nagasaka H, Tsuruoka T, Omata Y, Horie H, Tregoning S, Thorburn DR, Takayanagi M, Ohtake A. Murayama K, et al. Eur J Pediatr. 2009 Mar;168(3):297-302. doi: 10.1007/s00431-008-0753-7. Epub 2008 Jun 17. Eur J Pediatr. 2009. PMID: 18560889

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