Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX et al.
Journal of Molecular Neuroscience : Mn, 2021
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.
Li H et al.
Frontiers in Pharmacology, 2021
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Recessive gene disruptions in autism spectrum disorder.
Doan RN et al.
Nature Genetics, 2019
POLG mutations presenting as Charcot-Marie-Tooth disease.
Phillips J et al.
Journal of the Peripheral Nervous System : Jpns, 2019
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes].
Dai LF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
Da Pozzo P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders.
Formichi P et al.
Journal of the Neurological Sciences, 2016
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
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
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
Habek M et al.
The Neurologist, 2012
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.
Baruffini E et al.
Plos One, 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
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Wang W et al.
Nucleic Acids Research, 2011
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
Baruffini E et al.
Mitochondrion, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Role of histidine 932 of the human mitochondrial DNA polymerase in nucleotide discrimination and inherited disease.
Batabyal D et al.
The Journal of Biological Chemistry, 2010
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Kurt B et al.
Archives of Neurology, 2010
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS et al.
Methods in Molecular Biology (clifton, N.j.), 2009
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.
Cagnoli C et al.
Journal of Neurology, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human.
Baruffini E et al.
Biochimica Et Biophysica Acta, 2007
Mitochondrial dysfunction as the molecular basis of bipolar disorder: therapeutic implications.
Kato T
Cns Drugs, 2007
Molecular diagnosis of Alpers syndrome.
Nguyen KV et al.
Journal of Hepatology, 2006
Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes.
Kasahara T et al.
Molecular Psychiatry, 2006