Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
about
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stallingMitochondrial 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 disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyAlpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsDigenic 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 ophthalmoplegiaSensory neuronopathies.SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkMitochondrial disorders of the nuclear genomeFunctional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.Defects in mitochondrial DNA replication and human diseaseHypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiencyPeripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.Mitochondrial DNA polymerase-gamma and human disease.Inherited mitochondrial diseases of DNA replicationMitochondrial DNA: impacting central and peripheral nervous systems.Two families with autosomal dominant progressive external ophthalmoplegiaBiochemical analysis of the G517V POLG variant reveals wild-type like activity.Mitochondriopathies.Sensory neuronopathy in patients harbouring recessive polymerase γ mutationsWhat is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Extraocular mitochondrial myopathies and their differential diagnoses.Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG geneMitochondrial diseases: a nosological update.Clinical and molecular features of POLG-related mitochondrial disease.One complex world of mitochondrial parkinsonismProspective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.Mitochondrial mutations: newly discovered players in neuronal degeneration.A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
P2860
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P2860
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@ast
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@en
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@nl
type
label
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@ast
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@en
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@nl
prefLabel
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@ast
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@en
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@nl
P2093
P1476
Recessive POLG mutations prese ...... sive external ophthalmoplegia.
@en
P2093
Ceuterick C
De Jonghe P
Van Broeckhoven C
Van Goethem G
P304
P356
10.1016/S0960-8966(02)00216-X
P577
2003-02-01T00:00:00Z