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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: frank j. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential.
Stutzman MJ, Kim CSJ, Tester DJ, Hamrick SK, Dotzler SM, Giudicessi JR, Miotto MC, Gc JB, Frank J, Marks AR, Ackerman MJ. Stutzman MJ, et al. Among authors: frank j. Stem Cell Reports. 2022 Sep 13;17(9):2023-2036. doi: 10.1016/j.stemcr.2022.07.002. Epub 2022 Aug 4. Stem Cell Reports. 2022. PMID: 35931078 Free PMC article.
POLARIS: Path of Least Action Analysis on Energy Landscapes.
Seitz E, Frank J. Seitz E, et al. Among authors: frank j. J Chem Inf Model. 2020 May 26;60(5):2581-2590. doi: 10.1021/acs.jcim.9b01108. Epub 2020 Feb 20. J Chem Inf Model. 2020. PMID: 31999117 Free PMC article.
3,579 results