Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

By Goffart Steffi   Cooper Helen M.   Tyynismaa Henna   Wanrooij Sjoerd   Suomalainen Anu   Spelbrink Johannes N.  

Human Molecular Genetics, Vol. 18, Iss. 2, 2009-01 ,pp. : 328-340

Oxford University Press

Access to resources Recommend Favorite

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase  associated with progressive external ophthalmoplegia

By Stuart Gregory R.   Santos Janine H.   Strand Micheline K.   Van Houten Bennett   Copeland William C.  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 363-374

Oxford University Press

Access to resources Recommend Favorite

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans

By Baruffini Enrico   Lodi Tiziana   Puglisi Andrea   Zeviani Massimo   Ferrero Iliana  

Human Molecular Genetics, Vol. 15, Iss. 19, 2006-10 ,pp. : 2846-2855

Oxford University Press

Access to resources Recommend Favorite

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

By Tyynismaa Henna   Sun Ren   Ahola-Erkkilä Sofia   Almusa Henrikki   Pöyhönen Rosanna   Korpela Mari   Honkaniemi Jari   Isohanni Pirjo   Paetau Anders   Wang Liya   Suomalainen Anu  

Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 66-75

Oxford University Press

Access to resources Recommend Favorite

Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system

By Inga Alberto  

Human Molecular Genetics, Vol. 14, Iss. 14, 2005-07 ,pp. : 1965-1975

Oxford University Press

Access to resources Recommend Favorite