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| Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria JN Spelbrink, FY Li, V Tiranti, K Nikali, QP Yuan, M Tariq, S Wanrooij, ... Nature genetics 28 (3), 223-231, 2001 | 1009 | 2001 |
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| Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia E Lamantea, V Tiranti, A Bordoni, A Toscano, F Bono, S Servidei, ... Annals of neurology 52 (2), 211-219, 2002 | 329 | 2002 |
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| Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ... Nature genetics 44 (7), 797-802, 2012 | 227 | 2012 |
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