about
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsMitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisAlpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamMitochondrial disease in childhood: nuclear encodedAlpers-Huttenlocher syndromeMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsDeep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy MetabolismMitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic studyThe role of mitochondrial DNA mutations in mammalian agingThe in-depth evaluation of suspected mitochondrial diseaseMitochondrial genome maintenance in health and disease.Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Defects of mitochondrial DNA replication.Role of histidine 932 of the human mitochondrial DNA polymerase in nucleotide discrimination and inherited disease.Defects in mitochondrial DNA replication and human diseaseMitochondrial DNA polymerase-gamma and human disease.Inherited mitochondrial diseases of DNA replicationValproic acid-associated acute liver failure in children: case report and analysis of liver transplantation outcomes in the United States.Reduced stimulation of recombinant DNA polymerase γ and mitochondrial DNA (mtDNA) helicase by variants of mitochondrial single-stranded DNA-binding protein (mtSSB) correlates with defects in mtDNA replication in animal cells.Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disordersMapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.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 hepatopathies: advances in genetics and pathogenesis.Liver disease in mitochondrial disorders.Clinical and molecular features of POLG-related mitochondrial disease.Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.The mitochondrial DNA polymerase in health and disease.Epilepsy in children--when should we think neurometabolic disease?Mitochondrial DNA maintenance: an appraisal.The presence of anaemia negatively influences survival in patients with POLG disease.Inherited mitochondrial genomic instability and chemical exposures.The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.Mitochondrial DNA damage and impaired base excision repair during epileptogenesis.Understanding the Epilepsy in POLG Related Disease
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Molecular diagnosis of Alpers syndrome.
@en
Molecular diagnosis of Alpers syndrome.
@nl
type
label
Molecular diagnosis of Alpers syndrome.
@en
Molecular diagnosis of Alpers syndrome.
@nl
prefLabel
Molecular diagnosis of Alpers syndrome.
@en
Molecular diagnosis of Alpers syndrome.
@nl
P2093
P1476
Molecular diagnosis of Alpers syndrome
@en
P2093
Farida S Sharief
Khue V Nguyen
Robert K Naviaux
Sherine S L Chan
P304
P356
10.1016/J.JHEP.2005.12.026
P577
2006-02-20T00:00:00Z