Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

2,259 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: hirano m. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
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.
Analysis of human mitochondrial DNA mutations.
Andreu AL, Martí R, Hirano M. Andreu AL, et al. Among authors: hirano m. Methods Mol Biol. 2003;217:185-97. doi: 10.1385/1-59259-330-5:185. Methods Mol Biol. 2003. PMID: 12491933 No abstract available.
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.
Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM. Taylor RW, et al. Among authors: hirano m. J Am Coll Cardiol. 2003 May 21;41(10):1786-96. doi: 10.1016/s0735-1097(03)00300-0. J Am Coll Cardiol. 2003. PMID: 12767666 Free article.
2,259 results