Associated Papers
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Bris C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Piekutowska-Abramczuk D et al.
Mitochondrion, 2019
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Goudenège D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
Blázquez-Bermejo C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.
Kaliszewska M et al.
Human Genetics, 2015
Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.
Lam CW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
Amiot A et al.
Gastroenterology, 2009