Associated Papers
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
Felhi R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
29575536 (PubMed )
Supplement: GCC-57-366-s002.xlsx › Adenoma
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
The unfolding clinical spectrum of POLG mutations.
Blok MJ et al.
Journal of Medical Genetics, 2009
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