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Zeviani M

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Publications:

Title Authors Year Journal
Clinical and molecular features of mitochondrial DNA depletion syndromes. Zeviani M 2009 Journal of inherited metabolic disease
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. Zeviani M 2008 Neuromuscular disorders : NMD
POLG1 in idiopathic Parkinson disease. Zeviani M 2006 Neurology
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia. Zeviani M 2006 Journal of endocrinological investigation
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Zeviani M 2006 Brain : a journal of neurology
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Zeviani M 2006 Human molecular genetics
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Zeviani M 2006 Brain : a journal of neurology
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Zeviani M 2005 Brain : a journal of neurology
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Zeviani M 2005 Neurology
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. Zeviani M 2004 Annals of neurology
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Zeviani M 2003 Neurology
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Zeviani M 2002 Annals of neurology
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