Nishigaki Y - Search Results

1

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.

Hirano M, Martí R, Spinazzola A, Nishino I, Nishigaki Y. Hirano M, et al. Among authors: nishigaki y. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1217-25. doi: 10.1081/NCN-200027485. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571233

2

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

3

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.

4

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.

5

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

6

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

7

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.

8

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

9

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.

10

Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Hirano M, Nishino I, Nishigaki Y, Martí R. Hirano M, et al. Among authors: nishigaki y. Intern Med. 2006;45(19):1103. doi: 10.2169/internalmedicine.45.6064. Epub 2006 Nov 1. Intern Med. 2006. PMID: 17077575 Free article. No abstract available.

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