Hirano M - Search Results

1

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M. Halter JP, et al. Among authors: hirano m. Brain. 2015 Oct;138(Pt 10):2847-58. doi: 10.1093/brain/awv226. Epub 2015 Aug 10. Brain. 2015. PMID: 26264513 Free PMC article.

2

Altered thymidine metabolism due to defects of thymidine phosphorylase.

Spinazzola A, Marti R, Nishino I, Andreu AL, Naini A, Tadesse S, Pela I, Zammarchi E, Donati MA, Oliver JA, Hirano M. Spinazzola A, et al. Among authors: hirano m. J Biol Chem. 2002 Feb 8;277(6):4128-33. doi: 10.1074/jbc.M111028200. Epub 2001 Dec 3. J Biol Chem. 2002. PMID: 11733540 Free article.

3

Analysis of human mitochondrial DNA mutations.

Andreu AL, Martí R, Hirano M. Andreu AL, et al. Among authors: hirano m. Methods Mol Biol. 2003;217:185-97. doi: 10.1385/1-59259-330-5:185. Methods Mol Biol. 2003. PMID: 12491933 No abstract available.

4

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.

Martí R, Nishigaki Y, Hirano M. Martí R, et al. Among authors: hirano m. 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

5

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. Among authors: hirano m. J Clin Invest. 2003 Jun;111(12):1913-21. doi: 10.1172/JCI17828. J Clin Invest. 2003. PMID: 12813027 Free PMC article.

6

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S. Mancuso M, et al. Among authors: hirano m. Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007. Arch Neurol. 2003. PMID: 12873860

7

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

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

8

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S. Filosto M, et al. Among authors: hirano m. Arch Neurol. 2003 Sep;60(9):1279-84. doi: 10.1001/archneur.60.9.1279. Arch Neurol. 2003. PMID: 12975295

9

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

Filosto M, Mancuso M, Vives-Bauza C, Vilà MR, Shanske S, Hirano M, Andreu AL, DiMauro S. Filosto M, et al. Among authors: hirano m. Ann Neurol. 2003 Oct;54(4):524-6. doi: 10.1002/ana.10709. Ann Neurol. 2003. PMID: 14520667

10

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. Among authors: hirano m. 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

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