Murayama K - Search Results

1

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D. Brea-Calvo G, et al. Among authors: murayama k. Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023. Am J Hum Genet. 2015. PMID: 25658047 Free PMC article.

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

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

4

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.

Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, Ohtake A, Iwasa H, Nishiyama M, Okazaki Y, Harashima H, Eitoku T, Yamamoto M, Matsushita H, Kitamoto K, Sakata S, Katayama T, Sugimoto S, Fujimoto Y, Murakami J, Kanzaki S, Shiraki K. Kaji S, et al. Among authors: murayama k. Mol Genet Metab. 2009 Aug;97(4):292-6. doi: 10.1016/j.ymgme.2009.04.014. Epub 2009 May 12. Mol Genet Metab. 2009. PMID: 19520594

5

Children's toxicology from bench to bed--Liver Injury (4): Mitochondrial respiratory chain disorder and liver disease in children.

Murayama K, Ohtake A. Murayama K, et al. J Toxicol Sci. 2009;34 Suppl 2:SP237-43. doi: 10.2131/jts.34.sp237. J Toxicol Sci. 2009. PMID: 19571475 Free article.

6

Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy.

Arakawa C, Endo A, Kohira R, Fujita Y, Fuchigami T, Mugishima H, Ohtake A, Murayama K, Mori M, Miyata R, Hatai Y. Arakawa C, et al. Among authors: murayama k. Brain Dev. 2012 Feb;34(2):115-7. doi: 10.1016/j.braindev.2011.03.002. Epub 2011 Mar 26. Brain Dev. 2012. PMID: 21441007

7

Fatal case of mitochondrial DNA depletion with severe asphyxia in a newborn.

Nakano Y, Murayama K, Tsuruoka T, Aizawa M, Nagasaka H, Horie H, Ohtake A, Saitou K. Nakano Y, et al. Among authors: murayama k. Pediatr Int. 2011 Apr;53(2):240-2. doi: 10.1111/j.1442-200X.2010.03183.x. Pediatr Int. 2011. PMID: 21501307 No abstract available.

8

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

Sakamoto O, Ohura T, Murayama K, Ohtake A, Harashima H, Abukawa D, Takeyama J, Haginoya K, Miyabayashi S, Kure S. Sakamoto O, et al. Among authors: murayama k. Pediatr Int. 2011 Dec;53(6):921-5. doi: 10.1111/j.1442-200X.2011.03412.x. Pediatr Int. 2011. PMID: 21639866

9

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

Tanigawa J, Kaneko K, Honda M, Harashima H, Murayama K, Wada T, Takano K, Iai M, Yamashita S, Shimbo H, Aida N, Ohtake A, Osaka H. Tanigawa J, et al. Among authors: murayama k. Brain Dev. 2012 Nov;34(10):861-5. doi: 10.1016/j.braindev.2012.02.007. Epub 2012 Mar 10. Brain Dev. 2012. PMID: 22410471

10

Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: diagnosis of mitochondrial respiratory chain disorders.

Yamamoto T, Emoto Y, Murayama K, Tanaka H, Kuriu Y, Ohtake A, Matoba R. Yamamoto T, et al. Among authors: murayama k. Mol Genet Metab. 2012 Aug;106(4):474-7. doi: 10.1016/j.ymgme.2012.05.002. Epub 2012 May 11. Mol Genet Metab. 2012. PMID: 22658691

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