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  • Johannes N. Spelbrink, Fang-yuan Li, +18 authors Catharina Larsson
  • Biology, Medicine
  • Nature Genetics
  • 2001 (First Publication: 1 July 2001)
  • The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report here a novel mitochondrial protein, Twinkle, with structuralExpand
  • Monika B Hartig, Arcangela Iuso, +22 authors Holger Prokisch
  • Medicine, Biology
  • American journal of human genetics
  • 2011 (First Publication: 7 October 2011)
  • The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized byExpand
  • Eleonora Lamantea, Valeria Tiranti, +9 authors Massimo Zeviani
  • Biology, Medicine
  • Annals of neurology
  • 2002 (First Publication: 1 August 2002)
  • One form of familial progressive external ophthalmoplegia with multiple mitochondrial DNA deletions recently has been associated with mutations in POLG1, the gene encoding pol gammaA, the catalyticExpand