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The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Biochim Biophys Acta Mol Basis Dis. 2023 Oct;1869(7):166786. doi: 10.1016/j.bbadis.2023.166786. Epub 2023 Jun 10.
Biochim Biophys Acta Mol Basis Dis. 2023.
PMID: 37302426
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ.
Erdinc D, et al.
EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4.
EMBO Mol Med. 2023.
PMID: 37013609
Free PMC article.
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Two type I topoisomerases maintain DNA topology in human mitochondria.
Menger KE, Chapman J, Díaz-Maldonado H, Khazeem MM, Deen D, Erdinc D, Casement JW, Di Leo V, Pyle A, Rodríguez-Luis A, Cowell IG, Falkenberg M, Austin CA, Nicholls TJ.
Menger KE, et al. Among authors: erdinc d.
Nucleic Acids Res. 2022 Oct 28;50(19):11154-11174. doi: 10.1093/nar/gkac857.
Nucleic Acids Res. 2022.
PMID: 36215039
Free PMC article.
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Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO.
Hedberg-Oldfors C, Macao B, Basu S, Lindberg C, Peter B, Erdinc D, Uhler JP, Larsson E, Falkenberg M, Oldfors A.
Hedberg-Oldfors C, et al. Among authors: erdinc d.
Neurol Genet. 2020 Jan 10;6(1):e391. doi: 10.1212/NXG.0000000000000391. eCollection 2020 Feb.
Neurol Genet. 2020.
PMID: 32042919
Free PMC article.
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