Hirano M - Search Results

1

Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS.

Kariya S, Sampson JB, Northrop LE, Luccarelli CM, Naini AB, Re DB, Hirano M, Mitsumoto H. Kariya S, et al. Among authors: hirano m. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Dec;15(7-8):581-7. doi: 10.3109/21678421.2014.907319. Epub 2014 May 9. Amyotroph Lateral Scler Frontotemporal Degener. 2014. PMID: 24809826 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

Primary coenzyme Q10 deficiency and the brain.

Naini A, Lewis VJ, Hirano M, DiMauro S. Naini A, et al. Among authors: hirano m. Biofactors. 2003;18(1-4):145-52. doi: 10.1002/biof.5520180217. Biofactors. 2003. PMID: 14695930

5

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S. Naini AB, et al. Among authors: hirano m. Arch Neurol. 2005 Mar;62(3):473-6. doi: 10.1001/archneur.62.3.473. Arch Neurol. 2005. PMID: 15767514

6

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

7

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M. Quinzii C, et al. Among authors: hirano m. Am J Hum Genet. 2006 Feb;78(2):345-9. doi: 10.1086/500092. Epub 2005 Dec 22. Am J Hum Genet. 2006. PMID: 16400613 Free PMC article.

8

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.

9

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.

10

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP. Tanji K, et al. Among authors: hirano m. J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7. J Neurol Sci. 2008. PMID: 18314141 Free PMC article.

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