Lamantea E
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Publications:
Title | Authors | Year | Journal |
---|---|---|---|
Clinical and molecular features of mitochondrial DNA depletion syndromes. | Lamantea E | 2009 | Journal of inherited metabolic disease |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. | Lamantea E | 2006 | Brain : a journal of neurology |
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. | Lamantea E | 2005 | Brain : a journal of neurology |
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. | Lamantea E | 2004 | Annals of neurology |
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. | Lamantea E | 2002 | Annals of neurology |