Associated Papers
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Frezatti RSS et al.
Brain Communications, 2024
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 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
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.
Palombo F et al.
Stem Cell Reports, 2021
Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.
Müller-Nedebock AC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
Lee Y et al.
Genes, 2021
Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant.
Sriwattanapong K et al.
International Journal of Neonatal Screening, 2021
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.
Gervasoni J et al.
Genes, 2020
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F et al.
Human Genetics, 2020
Macular impairment in mitochondrial diseases: a potential biomarker of disease severity.
Primiano G et al.
Scientific Reports, 2020
POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.
Hsieh PC et al.
Brain and Behavior, 2019
Late-onset presentation of POLG1-associated mitochondrial disease.
Meira B et al.
Bmj Case Reports, 2019
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
Masingue M et al.
Mitochondrion, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.
Trifunov S et al.
Scientific Reports, 2018
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.
Castiglioni C et al.
European Journal of Human Genetics : Ejhg, 2018
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
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
Menezes MP et al.
Mitochondrion, 2016
Levodopa-Responsive Parkinsonism with Prominent Freezing and Abnormal Dopamine Transporter Scan Associated with SANDO Syndrome.
Batla A et al.
Movement Disorders Clinical Practice, 2015
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
POLG1-related levodopa-responsive parkinsonism.
Miguel R et al.
Clinical Neurology and Neurosurgery, 2014
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.
Sohl CD et al.
Human Molecular Genetics, 2013
A novel POLG gene mutation in a patient with SANDO.
Kurt B et al.
Journal of Experimental and Integrative 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
Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.
Ferreira M et al.
Neuromuscular Disorders : Nmd, 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
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
McHugh JC et al.
Muscle & Nerve, 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
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
SANDO: two novel mutations in POLG1 gene.
Gago MF et al.
Neuromuscular Disorders : Nmd, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R et al.
Brain : a Journal of Neurology, 2006
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