Associated Papers
Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.
Campos-Garcia FJ et al.
Pediatric Cardiology, 2026
Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.
Campos-Garcia FJ et al.
Pediatric Cardiology, 2025
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.
Mao B et al.
Frontiers in Neuroscience, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Camptocormia as the main manifestation of a mutation in the POLG gene.
Sancho Saldaña A et al.
Neurologia, 2021
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.
Li H et al.
Frontiers in Pharmacology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.
Nurminen A et al.
Bba Clinical, 2017
Mitochondrial nucleic acid binding proteins associated with diseases.
Uchiumi T et al.
Frontiers in Bioscience (landmark Edition), 2017
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
Tchikviladzé M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms.
Qian Y et al.
Frontiers in Genetics, 2015
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
Rouzier C et al.
European Journal of Human Genetics : Ejhg, 2014
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
Euro L et al.
Nucleic Acids Research, 2011
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Tang S et al.
Journal of Medical Genetics, 2011
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
Baruffini E et al.
Mitochondrion, 2011
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Kurt B et al.
Archives of Neurology, 2010
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
Smet J et al.
Electrophoresis, 2009