Featured
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- Sara Seneca
- , Kim Vancampenhout
- & Linda De Meirleir
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Article
| Open Access
Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population
- Shengting Li
- , Soren Besenbacher
- & Mikkel H Schierup
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Population-level expression variability of mitochondrial DNA-encoded genes in humans
- Gang Wang
- , Ence Yang
- & James J Cai
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Complete mtDNA genomes of Filipino ethnolinguistic groups: a melting pot of recent and ancient lineages in the Asia-Pacific region
- Frederick Delfin
- , Albert Min-Shan Ko
- & Mark Stoneking
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Letter |
From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression
- Martin P Horan
- , Neil J Gemmell
- & Jonci N Wolff
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Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example
- Micaela Poetsch
- , Aline Wiegand
- & Nicole von Wurmb-Schwark
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Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene
- Ivo Barić
- , Ksenija Fumić
- & Johannes A Mayr
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Genetic perspectives on the origin of clicks in Bantu languages from southwestern Zambia
- Chiara Barbieri
- , Anne Butthof
- & Brigitte Pakendorf
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Short Report |
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy
- Sara Roos
- , Niklas Darin
- & Anders Oldfors
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Small effective population size and genetic homogeneity in the Val Borbera isolate
- Vincenza Colonna
- , Giorgio Pistis
- & Daniela Toniolo
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Article
| Open Access
Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy
- Naomi Chadderton
- , Arpad Palfi
- & G Jane Farrar
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Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
- Helen AL Tuppen
- , Karin Naess
- & Robert McFarland
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The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees
- Hong Chen
- , Jing Zheng
- & Min-Xin Guan
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Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease
- Elizna M van der Walt
- , Izelle Smuts
- & Francois H van der Westhuizen
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Low prevalence of lactase persistence in Neolithic South-West Europe
- Theo S Plantinga
- , Santos Alonso
- & Concepcion de la Rúa
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Maternally inherited mitochondrial DNA disease in consanguineous families
- Charlotte L Alston
- , Langping He
- & Robert W Taylor
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Article
| Open Access
The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree
- Zhongqiu Lu
- , Hong Chen
- & Min-Xin Guan
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High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences
- Anna Schönberg
- , Christoph Theunert
- & Ivan Nasidze
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Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
- Helen Swalwell
- , Denise M Kirby
- & David R Thorburn
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Mitochondrial analysis of a Byzantine population reveals the differential impact of multiple historical events in South Anatolia
- Claudio Ottoni
- , François-X Ricaut
- & Ronny Decorte
Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants