Hirano M - Search Results

1

Implications of mitochondrial DNA mutations in human induced pluripotent stem cells.

Carelli V, Hirano M, Enríquez JA, Chinnery PF. Carelli V, et al. Among authors: hirano m. Nat Rev Genet. 2022 Feb;23(2):69-70. doi: 10.1038/s41576-021-00430-z. Nat Rev Genet. 2022. PMID: 34728812 Free PMC article.

2

Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report.

Barboni P, Savini G, Plazzi G, Bellan M, Valentino ML, Zanini M, Montagna P, Hirano M, Carelli V. Barboni P, et al. Among authors: hirano m. Graefes Arch Clin Exp Ophthalmol. 2004 Oct;242(10):878-80. doi: 10.1007/s00417-004-0914-y. Epub 2004 Mar 24. Graefes Arch Clin Exp Ophthalmol. 2004. PMID: 15042378

3

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage.

Perier C, Tieu K, Guégan C, Caspersen C, Jackson-Lewis V, Carelli V, Martinuzzi A, Hirano M, Przedborski S, Vila M. Perier C, et al. Among authors: hirano m. Proc Natl Acad Sci U S A. 2005 Dec 27;102(52):19126-31. doi: 10.1073/pnas.0508215102. Epub 2005 Dec 19. Proc Natl Acad Sci U S A. 2005. PMID: 16365298 Free PMC article.

4

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.

Giordano C, Sebastiani M, Plazzi G, Travaglini C, Sale P, Pinti M, Tancredi A, Liguori R, Montagna P, Bellan M, Valentino ML, Cossarizza A, Hirano M, d'Amati G, Carelli V. Giordano C, et al. Among authors: hirano m. Gastroenterology. 2006 Mar;130(3):893-901. doi: 10.1053/j.gastro.2006.01.004. Gastroenterology. 2006. PMID: 16530527

5

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.

6

Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.

Giordano C, Sebastiani M, De Giorgio R, Travaglini C, Tancredi A, Valentino ML, Bellan M, Cossarizza A, Hirano M, d'Amati G, Carelli V. Giordano C, et al. Among authors: hirano m. Am J Pathol. 2008 Oct;173(4):1120-8. doi: 10.2353/ajpath.2008.080252. Epub 2008 Sep 11. Am J Pathol. 2008. PMID: 18787099 Free PMC article.

7

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Horvath R, et al. Among authors: hirano m. Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31. Brain. 2009. PMID: 19720722 Free PMC article.

8

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Garcia-Diaz B, et al. Among authors: hirano m. Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022099 Free PMC article.

9

Human mitochondrial DNA: roles of inherited and somatic mutations.

Schon EA, DiMauro S, Hirano M. Schon EA, et al. Among authors: hirano m. Nat Rev Genet. 2012 Dec;13(12):878-90. doi: 10.1038/nrg3275. Nat Rev Genet. 2012. PMID: 23154810 Free PMC article. Review.

10

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. Neeve VC, et al. Among authors: hirano m. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. Brain. 2012. PMID: 23250882 Free PMC article.

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