Hirano M - Search Results

1

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.

2

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.

3

[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.

4

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

5

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

6

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.

López LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M. López LC, et al. Among authors: hirano m. Am J Hum Genet. 2006 Dec;79(6):1125-9. doi: 10.1086/510023. Epub 2006 Oct 27. Am J Hum Genet. 2006. PMID: 17186472 Free PMC article.

7

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.

López LC, Akman HO, García-Cazorla A, Dorado B, Martí R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K, Hirano M. López LC, et al. Among authors: hirano m. Hum Mol Genet. 2009 Feb 15;18(4):714-22. doi: 10.1093/hmg/ddn401. Epub 2008 Nov 21. Hum Mol Genet. 2009. PMID: 19028666 Free PMC article.

8

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.

Quinzii CM, López LC, Von-Moltke J, Naini A, Krishna S, Schuelke M, Salviati L, Navas P, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: hirano m. FASEB J. 2008 Jun;22(6):1874-85. doi: 10.1096/fj.07-100149. Epub 2008 Jan 29. FASEB J. 2008. PMID: 18230681 Free PMC article.

9

Pathomechanisms in coenzyme q10-deficient human fibroblasts.

López LC, Luna-Sánchez M, García-Corzo L, Quinzii CM, Hirano M. López LC, et al. Among authors: hirano m. Mol Syndromol. 2014 Jul;5(3-4):163-9. doi: 10.1159/000360494. Mol Syndromol. 2014. PMID: 25126049 Free PMC article.

10

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Valentino ML, Martí R, Tadesse S, López LC, Manes JL, Lyzak J, Hahn A, Carelli V, Hirano M. Valentino ML, et al. Among authors: hirano m. FEBS Lett. 2007 Jul 24;581(18):3410-4. doi: 10.1016/j.febslet.2007.06.042. Epub 2007 Jun 27. FEBS Lett. 2007. PMID: 17612528 Free PMC article.

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