Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
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Treatment for mitochondrial disordersTreatment for mitochondrial disordersTwinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stallingStructural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutationsMitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originMutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegiaTwinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNAMitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsMitochondrial genome changes and neurodegenerative diseasesDefective interaction between Pol2p and Dpb2p, subunits of DNA polymerase epsilon, contributes to a mutator phenotype in Saccharomyces cerevisiaeDigenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/TwinkleStructure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegiaMitochondrial DNA polymerase gamma is essential for mammalian embryogenesisAutosomal recessive cerebellar ataxias.Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsPOLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy numberMolecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkFunctional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.Mitochondrial genome maintenance in health and disease.Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiencyNovel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy.POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.Polymorphism of the DNA base excision repair genes in keratoconus.Mitochondrial DNA: impacting central and peripheral nervous systems.Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.mtDNA Mutations and Their Role in Aging, Diseases and Forensic SciencesTwo families with autosomal dominant progressive external ophthalmoplegiaTechniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.Genetic defects in the oxidative phosphorylation (OXPHOS) system.Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease.Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
P2860
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P2860
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutations of mitochondrial DNA ...... sive external ophthalmoplegia.
@ast
Mutations of mitochondrial DNA ...... sive external ophthalmoplegia.
@en
Mutations of mitochondrial DNA ...... sive external ophthalmoplegia.
@nl
type
label
Mutations of mitochondrial DNA ...... sive external ophthalmoplegia.
@ast
Mutations of mitochondrial DNA ...... sive external ophthalmoplegia.
@en
Mutations of mitochondrial DNA ...... sive external ophthalmoplegia.
@nl
prefLabel
Mutations of mitochondrial DNA ...... sive external ophthalmoplegia.
@ast
Mutations of mitochondrial DNA ...... sive external ophthalmoplegia.
@en
Mutations of mitochondrial DNA ...... sive external ophthalmoplegia.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations of mitochondrial DNA ...... ssive external ophthalmoplegia
@en
P2093
Alex Papadimitriou
Antonio Toscano
Francesco Bono
Serena Servidei
P2860
P304
P356
10.1002/ANA.10278
P50
P577
2002-08-01T00:00:00Z