Published in Am J Hum Genet on January 01, 2008
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Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet (2002) 6.02
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A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol (2003) 1.57
Hungry codons promote frameshifting in human mitochondrial ribosomes. Science (2010) 1.57
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A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Anal Biochem (2007) 1.56
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain (2007) 1.55
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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain (2014) 1.49
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Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet (2002) 1.47
Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain (2002) 1.43
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A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat (2011) 1.33
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The human mitochondrial ribosome recycling factor is essential for cell viability. Nucleic Acids Res (2008) 1.29
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Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Hum Mol Genet (2004) 1.29
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain (2010) 1.28
Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions. J Neurol (2008) 1.28
Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. Brain (2010) 1.27
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Circular fingerprints: flexible molecular descriptors with applications from physical chemistry to ADME. IDrugs (2006) 1.25
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet (2002) 1.25
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A high frequency of mtDNA polymorphisms in HeLa cell sublines. Mutat Res (2002) 1.21
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Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit. Biochem J (2010) 1.18
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A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS J (2005) 1.15
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Eur J Hum Genet (2011) 1.14
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol (2007) 1.13