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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 4
1989 6
1990 6
1991 2
1992 2
1993 2
1994 3
1995 1
1996 2
1997 2
1998 2
1999 1
2000 7
2001 3
2002 2
2003 2
2004 2
2005 4
2006 4
2007 6
2008 1
2009 9
2010 6
2011 4
2012 7
2013 5
2014 5
2015 4
2016 4
2017 4
2018 2
2019 3
2020 1
2021 0
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111 results
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Page 1
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. Desai R, et al. Among authors: holt ij. Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094. Brain. 2017. PMID: 28549128 Free PMC article.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Gunning AC, et al. Among authors: holt ij. Am J Hum Genet. 2020 Feb 6;106(2):272-279. doi: 10.1016/j.ajhg.2020.01.007. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004445 Free PMC article.
The mitochondrial R-loop.
Holt IJ. Holt IJ. Nucleic Acids Res. 2019 Jun 20;47(11):5480-5489. doi: 10.1093/nar/gkz277. Nucleic Acids Res. 2019. PMID: 31045202 Free PMC article.
Blue Native electrophoresis to study mitochondrial and other protein complexes.
Nijtmans LG, Henderson NS, Holt IJ. Nijtmans LG, et al. Among authors: holt ij. Methods. 2002 Apr;26(4):327-34. doi: 10.1016/S1046-2023(02)00038-5. Methods. 2002. PMID: 12054923
Mitochondrial myopathies.
Harding AE, Holt IJ. Harding AE, et al. Among authors: holt ij. Br Med Bull. 1989 Jul;45(3):760-71. doi: 10.1093/oxfordjournals.bmb.a072356. Br Med Bull. 1989. PMID: 2688827 Review.
The Jekyll and Hyde character of RNase H1 and its multiple roles in mitochondrial DNA metabolism.
Holt IJ. Holt IJ. DNA Repair (Amst). 2019 Dec;84:102630. doi: 10.1016/j.dnarep.2019.06.001. Epub 2019 Jun 4. DNA Repair (Amst). 2019. PMID: 31178343 Review.
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A. Bugiardini E, et al. Among authors: holt ij. Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. doi: 10.1093/hmg/ddz093. Hum Mol Genet. 2019. PMID: 31039582 Free PMC article.
Human mitochondrial DNA replication.
Holt IJ, Reyes A. Holt IJ, et al. Cold Spring Harb Perspect Biol. 2012 Dec 1;4(12):a012971. doi: 10.1101/cshperspect.a012971. Cold Spring Harb Perspect Biol. 2012. PMID: 23143808 Free PMC article. Review.
LETM1 couples mitochondrial DNA metabolism and nutrient preference.
Durigon R, Mitchell AL, Jones AW, Manole A, Mennuni M, Hirst EM, Houlden H, Maragni G, Lattante S, Doronzio PN, Dalla Rosa I, Zollino M, Holt IJ, Spinazzola A. Durigon R, et al. Among authors: holt ij. EMBO Mol Med. 2018 Sep;10(9):e8550. doi: 10.15252/emmm.201708550. EMBO Mol Med. 2018. PMID: 30012579 Free PMC article.
Minimizing the damage: repair pathways keep mitochondrial DNA intact.
Kazak L, Reyes A, Holt IJ. Kazak L, et al. Among authors: holt ij. Nat Rev Mol Cell Biol. 2012 Oct;13(10):659-71. doi: 10.1038/nrm3439. Epub 2012 Sep 20. Nat Rev Mol Cell Biol. 2012. PMID: 22992591 Review.
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