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Turnbull DM

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Publications:

Title Authors Year Journal
Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease. Turnbull DM 2009 Neurology
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Turnbull DM 2009 Journal of medical genetics
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Turnbull DM 2007 Archives of neurology
MELAS associated with mutations in the POLG1 gene. Turnbull DM 2007 Neurology
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Turnbull DM 2006 Brain : a journal of neurology
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Turnbull DM 2006 Neurology
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Turnbull DM 2006 Am J Hum Genet
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Turnbull DM 2005 Neurology
Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired. Turnbull DM 2003 Biochimica et biophysica acta
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Turnbull DM 2003 Neurology
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