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Chinnery PF

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Publications:

Title Authors Year Journal
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Chinnery PF 2009 Journal of medical genetics
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Chinnery PF 2008 Archives of neurology
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. Chinnery PF 2008 Journal of neuropathology and experimental neurology
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1). Chinnery PF 2008 Archives of disease in childhood
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Chinnery PF 2007 Archives of neurology
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Chinnery PF 2006 Neurology
Mitochondrial DNA polymerase-gamma and human disease. Chinnery PF 2006 Hum Mol Genet
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Chinnery PF 2006 Brain : a journal of neurology
POLG1 in idiopathic Parkinson disease. Chinnery PF 2006 Neurology
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Chinnery PF 2006 Am J Hum Genet
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Chinnery PF 2003 Neurology

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