Nishigaki Y - Search Results

1

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.

Nishigaki Y, Marti R, Hirano M. Nishigaki Y, et al. Hum Mol Genet. 2004 Jan 1;13(1):91-101. doi: 10.1093/hmg/ddh010. Epub 2003 Nov 12. Hum Mol Genet. 2004. PMID: 14613972

2

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.

Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. Shanske S, et al. Among authors: nishigaki y. Am J Hum Genet. 2002 Sep;71(3):679-83. doi: 10.1086/342482. Epub 2002 Jul 31. Am J Hum Genet. 2002. PMID: 12152148 Free PMC article.

3

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.

Martí R, Nishigaki Y, Hirano M. Martí R, et al. Among authors: nishigaki y. Biochem Biophys Res Commun. 2003 Mar 28;303(1):14-8. doi: 10.1016/s0006-291x(03)00294-8. Biochem Biophys Res Commun. 2003. PMID: 12646159

4

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.

Nishigaki Y, Martí R, Copeland WC, Hirano M. Nishigaki Y, et al. J Clin Invest. 2003 Jun;111(12):1913-21. doi: 10.1172/JCI17828. J Clin Invest. 2003. PMID: 12813027 Free PMC article.

5

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.

Nishigaki Y, Tadesse S, Bonilla E, Shungu D, Hersh S, Keats BJ, Berlin CI, Goldberg MF, Vockley J, DiMauro S, Hirano M. Nishigaki Y, et al. Neuromuscul Disord. 2003 May;13(4):334-40. doi: 10.1016/s0960-8966(02)00283-3. Neuromuscul Disord. 2003. PMID: 12868503

6

Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.

Martí R, Nishigaki Y, Vilá MR, Hirano M. Martí R, et al. Among authors: nishigaki y. Clin Chem Lab Med. 2003 Jul;41(7):845-51. doi: 10.1515/CCLM.2003.128. Clin Chem Lab Med. 2003. PMID: 12940507 Review.

7

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.

Martí R, Spinazzola A, Tadesse S, Nishino I, Nishigaki Y, Hirano M. Martí R, et al. Among authors: nishigaki y. Clin Chem. 2004 Jan;50(1):120-4. doi: 10.1373/clinchem.2003.026179. Epub 2003 Nov 18. Clin Chem. 2004. PMID: 14633909

8

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

Hirano M, Nishigaki Y, Martí R. Hirano M, et al. Among authors: nishigaki y. Neurologist. 2004 Jan;10(1):8-17. doi: 10.1097/01.nrl.0000106919.06469.04. Neurologist. 2004. PMID: 14720311 Review.

9

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

Hirano M, Lagier-Tourenne C, Valentino ML, Martí R, Nishigaki Y. Hirano M, et al. Among authors: nishigaki y. Gene. 2005 Jul 18;354:152-6. doi: 10.1016/j.gene.2005.04.041. Gene. 2005. PMID: 15975738

10

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

Hirano M, Marti R, Ferreiro-Barros C, Vilà MR, Tadesse S, Nishigaki Y, Nishino I, Vu TH. Hirano M, et al. Among authors: nishigaki y. Semin Cell Dev Biol. 2001 Dec;12(6):417-27. doi: 10.1006/scdb.2001.0279. Semin Cell Dev Biol. 2001. PMID: 11735376 Review.

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