Hirano M - Search Results

1

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.

Lopez-Gomez C, Levy RJ, Sanchez-Quintero MJ, Juanola-Falgarona M, Barca E, Garcia-Diaz B, Tadesse S, Garone C, Hirano M. Lopez-Gomez C, et al. Among authors: hirano m. Ann Neurol. 2017 May;81(5):641-652. doi: 10.1002/ana.24922. Epub 2017 May 4. Ann Neurol. 2017. PMID: 28318037 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

Mitochondrial DNA depletion and dGK gene mutations.

Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. Salviati L, et al. Among authors: hirano m. Ann Neurol. 2002 Sep;52(3):311-7. doi: 10.1002/ana.10284. Ann Neurol. 2002. PMID: 12205643

4

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. Among authors: hirano m. Neuromuscul Disord. 2003 May;13(4):334-40. doi: 10.1016/s0960-8966(02)00283-3. Neuromuscul Disord. 2003. PMID: 12868503

5

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

6

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

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: hirano m. Clin Chem. 2004 Jan;50(1):120-4. doi: 10.1373/clinchem.2003.026179. Epub 2003 Nov 18. Clin Chem. 2004. PMID: 14633909

8

POLG mutations and Alpers syndrome.

Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S. Davidzon G, et al. Among authors: hirano m. Ann Neurol. 2005 Jun;57(6):921-3. doi: 10.1002/ana.20498. Ann Neurol. 2005. PMID: 15929042

9

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

Marti R, Spinazzola A, Nishino I, Andreu AL, Naini A, Tadesse S, Oliver JA, Hirano M. Marti R, et al. Among authors: hirano m. Mitochondrion. 2002 Nov;2(1-2):143-7. doi: 10.1016/s1567-7249(02)00036-3. Mitochondrion. 2002. PMID: 16120316

10

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

Martí R, Verschuuren JJ, Buchman A, Hirano I, Tadesse S, van Kuilenburg AB, van Gennip AH, Poorthuis BJ, Hirano M. Martí R, et al. Among authors: hirano i, hirano m. Ann Neurol. 2005 Oct;58(4):649-52. doi: 10.1002/ana.20615. Ann Neurol. 2005. PMID: 16178026

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