Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.
about
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stallingMitochondrial gene replacement in primate offspring and embryonic stem cells.Mitochondrial DNA mutations in human diseaseCardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.Mitochondrial disease in adults: what's old and what's new?Mitochondrial geneticsGenetic Risk Factors for Ischemic and Hemorrhagic StrokeIncreased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS).Minisequencing mitochondrial DNA pathogenic mutations.New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degenerationMitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.Mitochondrial myopathies and the role of the pathologist in the molecular era.Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus.Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.Mitochondrial DNA mutations in human disease.Epidemiology and treatment of mitochondrial disorders.Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotypeMitochondrial diabetes mellitus.Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.Approach to neurometabolic diseases from a pediatric neurological point of view.Mitochondrial encephalomyopathies.Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment.The MELAS syndrome. Review of the literature: the role of the otologist.Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation.Molecular mechanisms of mitochondrial diabetes (MIDD).Mitochondrial DNA and disease.Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutationPrevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Inheritance of the m.3243A>G mutation.Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in bloodImpaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.Audiologic and genetic features of the A3243G mtDNA mutationPathogenic mitochondrial DNA mutations are common in the general populationCauses of Death in Adults with Mitochondrial DiseaseClinical aspects of hereditary hearing loss.Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.Three families with 'de novo' m.3243A > G mutation.
P2860
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P2860
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Epidemiology of A3243G, the mu ...... tation in an adult population.
@ast
Epidemiology of A3243G, the mu ...... tation in an adult population.
@en
Epidemiology of A3243G, the mu ...... tation in an adult population.
@nl
type
label
Epidemiology of A3243G, the mu ...... tation in an adult population.
@ast
Epidemiology of A3243G, the mu ...... tation in an adult population.
@en
Epidemiology of A3243G, the mu ...... tation in an adult population.
@nl
prefLabel
Epidemiology of A3243G, the mu ...... tation in an adult population.
@ast
Epidemiology of A3243G, the mu ...... tation in an adult population.
@en
Epidemiology of A3243G, the mu ...... tation in an adult population.
@nl
P2093
P2860
P356
P1476
Epidemiology of A3243G, the mu ...... utation in an adult population
@en
P2093
Hassinen IE
Majamaa-Voltti KA
Peuhkurinen KJ
Salmela PI
P2860
P304
P356
10.1086/301959
P407
P577
1998-08-01T00:00:00Z