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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1990 | 1 |
1993 | 1 |
1997 | 1 |
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2016 | 1 |
2017 | 1 |
2018 | 1 |
2024 | 0 |
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Page 1
Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.
Hum Mol Genet. 2010 Jan 15;19(2):374-86. doi: 10.1093/hmg/ddp503. Epub 2009 Oct 29.
Hum Mol Genet. 2010.
PMID: 19875463
Free PMC article.
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M.
Uziel G, et al.
J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. doi: 10.1136/jnnp.63.1.16.
J Neurol Neurosurg Psychiatry. 1997.
PMID: 9221962
Free PMC article.
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De novo mtDNA point mutations are common and have a low recurrence risk.
Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJ.
Sallevelt SC, et al.
J Med Genet. 2017 Feb;54(2):73-83. doi: 10.1136/jmedgenet-2016-103876. Epub 2016 Jul 22.
J Med Genet. 2017.
PMID: 27450679
Free PMC article.
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The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S.
Santorelli FM, et al.
Ann Neurol. 1993 Dec;34(6):827-34. doi: 10.1002/ana.410340612.
Ann Neurol. 1993.
PMID: 8250532
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Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.
Uittenbogaard M, Brantner CA, Fang Z, Wong LC, Gropman A, Chiaramello A.
Uittenbogaard M, et al.
Mol Genet Metab. 2018 May;124(1):71-81. doi: 10.1016/j.ymgme.2018.03.011. Epub 2018 Mar 27.
Mol Genet Metab. 2018.
PMID: 29602698
Free PMC article.
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A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA.
Holt IJ, et al.
Am J Hum Genet. 1990 Mar;46(3):428-33.
Am J Hum Genet. 1990.
PMID: 2137962
Free PMC article.
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