Hirano M - Search Results

1

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

2

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

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

[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.

5

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.

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

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.

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

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.

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,294 results

Search Page

Filters