Associated Papers
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.
Chen YP et al.
European Journal of Neurology, 2022
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.
Hou Y et al.
Molecular Genetics & Genomic Medicine, 2022
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Ng YS et al.
Brain : a Journal of Neurology, 2022
Clinical and molecular spectrum associated with Polymerase-γ related disorders.
Jha R et al.
Journal of Child Neurology, 2022
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX et al.
Journal of Molecular Neuroscience : Mn, 2021
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
Deepha S et al.
Journal of Molecular Neuroscience : Mn, 2021
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
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.
Lujan SA et al.
Genome Biology, 2020
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
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
The wide POLG-related spectrum: An integrated view.
Béreau M et al.
Journal of the Neurological Sciences, 2016
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Tang S et al.
Journal of Medical Genetics, 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
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
Saneto RP et al.
Seizure, 2010
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
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
Stewart JD et al.
Journal of Medical Genetics, 2009
[External progressive ophthalmoplegia associated with a motor-sensitive polyneuropathy in a patient with celiac disease].
Telerman-Toppet N et al.
Revue Neurologique, 1969
Sensory motor ataxic neuropathy associated dysarthria and ophthalmoplegia "SMANDO" in a consanguineous Moroccan patient with new POLG gene homozygote mutation.
Rafai MA et al.
Revue Neurologique, 0