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Taylor RW

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Publications:

Title Authors Year Journal
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. Taylor RW 2010 Muscle & nerve
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. Taylor RW 2009 Neurology
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Taylor RW 2009 Journal of medical genetics
Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease. Taylor RW 2009 Neurology
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Taylor RW 2008 Archives of neurology
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. Taylor RW 2008 Journal of neuropathology and experimental neurology
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1). Taylor RW 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. Taylor RW 2007 Archives of neurology
MELAS associated with mutations in the POLG1 gene. Taylor RW 2007 Neurology
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Taylor RW 2006 Neurology
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Taylor RW 2006 Brain : a journal of neurology
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Taylor RW 2006 Am J Hum Genet
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Taylor RW 2005 Neurology
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Taylor RW 2003 Neurology
Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired. Taylor RW 2003 Biochimica et biophysica acta

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