Hirano M - Search Results

1

Characterization of Danon disease in a male patient and his affected mother.

Sugie K, Koori T, Yamamoto A, Ogawa M, Hirano M, Inoue K, Nonaka I, Nishino I. Sugie K, et al. Among authors: hirano m. Neuromuscul Disord. 2003 Nov;13(9):708-11. doi: 10.1016/s0960-8966(03)00105-6. Neuromuscul Disord. 2003. PMID: 14561493

2

Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.

Sugie K, Noguchi S, Kozuka Y, Arikawa-Hirasawa E, Tanaka M, Yan C, Saftig P, von Figura K, Hirano M, Ueno S, Nonaka I, Nishino I. Sugie K, et al. Among authors: hirano m. J Neuropathol Exp Neurol. 2005 Jun;64(6):513-22. doi: 10.1093/jnen/64.6.513. J Neuropathol Exp Neurol. 2005. PMID: 15977643

3

Clinical and genetic analysis of lipid storage myopathies.

Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, López LC, Hirano M, Hayashi YK, Nonaka I, Nishino I. Ohkuma A, et al. Among authors: hirano m. Muscle Nerve. 2009 Mar;39(3):333-42. doi: 10.1002/mus.21167. Muscle Nerve. 2009. PMID: 19208393 Free PMC article.

4

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Liang WC, Ohkuma A, Hayashi YK, López LC, Hirano M, Nonaka I, Noguchi S, Chen LH, Jong YJ, Nishino I. Liang WC, et al. Among authors: hirano m. Neuromuscul Disord. 2009 Mar;19(3):212-6. doi: 10.1016/j.nmd.2009.01.008. Epub 2009 Feb 26. Neuromuscul Disord. 2009. PMID: 19249206 Free PMC article.

5

[MNGIE--thymidine phosphorylase deficiency].

Nishino I, Hirano M. Nishino I, et al. Among authors: hirano m. Nihon Rinsho. 2002 Apr;60 Suppl 4:349-52. Nihon Rinsho. 2002. PMID: 12013883 Review. Japanese. No abstract available.

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: 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

7

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene.

Akman HO, Davidzon G, Tanji K, Macdermott EJ, Larsen L, Davidson MM, Haller RG, Szczepaniak LS, Lehman TJ, Hirano M, DiMauro S. Akman HO, et al. Among authors: hirano m. Neuromuscul Disord. 2010 Jun;20(6):397-402. doi: 10.1016/j.nmd.2010.04.004. Epub 2010 May 14. Neuromuscul Disord. 2010. PMID: 20471263 Free PMC article.

8

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

9

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

Hirano M, Nishino I, Nishigaki Y, Martí R. Hirano M, et al. 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.

10

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.

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