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Times Cited: 808
Times Cited: 808
Times Cited
Times Co-cited
Similarity
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D C Wallace, G Singh, M T Lott, J A Hodge, T G Schurr, A M Lezza, L J Elsas, E K Nikoskelainen. Science 1988
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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.
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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
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Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
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Mitochondrial Genome Engineering: The Revolution May Not Be CRISPR-Ized.
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The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants.
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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.
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Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
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Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.
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Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
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MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.
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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
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A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
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Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene.
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Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.
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Leigh syndrome: One disorder, more than 75 monogenic causes.
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Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.
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Human mitochondrial DNA: roles of inherited and somatic mutations.
Eric A Schon, Salvatore DiMauro, Michio Hirano. Nat Rev Genet 2012
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A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine.
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MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
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Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.
M D'Aurelio, C Vives-Bauza, M M Davidson, G Manfredi. Hum Mol Genet 2010
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Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.
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Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.
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Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo.
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MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Rebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Amy C Goldstein, Thomas Klopstock, Marni J Falk. Hum Mutat 2019
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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
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A mitochondrial protein compendium elucidates complex I disease biology.
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Risk of developing a mitochondrial DNA deletion disorder.
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NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
E López-Gallardo, A Solano, M D Herrero-Martín, I Martínez-Romero, M D Castaño-Pérez, A L Andreu, A Herrera, M J López-Pérez, E Ruiz-Pesini, J Montoya. J Med Genet 2009
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Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.
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16
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.