Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.
Chen Y et al.
Frontiers in Medicine, 2025
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Clinical and molecular spectrum associated with Polymerase-γ related disorders.
Jha R et al.
Journal of Child Neurology, 2022
[The utility of whole genome sequencing in rare disease diagnostics].
Johansson Soller M et al.
Lakartidningen, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A et al.
Genome Medicine, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria.
Li L et al.
The Journal of International Medical Research, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation: A case report.
AlJabri MF et al.
Medicine, 2018
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Hikmat O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The presence of anaemia negatively influences survival in patients with POLG disease.
Hikmat O et al.
Journal of Inherited Metabolic Disease, 2017
Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team.
Saneto RP
Journal of Multidisciplinary Healthcare, 2016
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
Scuderi C et al.
Neuromuscular Disorders : Nmd, 2015
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
Horga A et al.
Brain : a Journal of Neurology, 2014
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
Farnum GA et al.
Biochimica Et Biophysica Acta, 2014
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE et al.
Science Translational Medicine, 2012
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 disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS et al.
Methods in Molecular Biology (clifton, N.j.), 2009
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
de Vries MC et al.
European Journal of Pediatrics, 2007
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R et al.
Brain : a Journal of Neurology, 2006
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Agostino A et al.
Neurology, 2003
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Phenotype Associated With Unique Compound Heterozygous POLG Variants: Case Presentation and Review of the Literature.
Finn LS et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0