about
Mitochondrial disorders: challenges in diagnosis & treatmentHistorical perspective on mitochondrial medicineFunctional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.Sequencing strategy for the whole mitochondrial genome resulting in high quality sequences.The mtDNA mutator mouse: Dissecting mitochondrial involvement in aging.Transmission of mitochondrial DNA diseases and ways to prevent them.Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts.Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.Therapeutic prospects for mitochondrial disease.Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TWMitochondrial replacement: from basic research to assisted reproductive technology portfolio tool-technicalities and possible risks.Is there more to aging than mitochondrial DNA and reactive oxygen species?Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).Consequences of zygote injection and germline transfer of mutant human mitochondrial DNA in mice.Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.Mitochondrial disease in childhood: mtDNA encoded.Human mitochondrial DNA: roles of inherited and somatic mutations.Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course.Transmission, inheritance and replication of mitochondrial DNA in mammals: implications for reproductive processes and infertility.Insight into mammalian mitochondrial DNA segregation.Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.Mitochondrial Mutations in Cardiac Disorders.Mitochondrial disease and endocrine dysfunction.Genetic Counselling for Maternally Inherited Mitochondrial Disorders.A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.The aetiology of cardiovascular disease: a role for mitochondrial DNA?Mitochondrial cytochrome c oxidase subunit II variations predict adverse prognosis in cytogenetically normal acute myeloid leukaemia.A history of mitochondrial diseases.Type 2 diabetes increases oocyte mtDNA mutations which are eliminated in the offspring by bottleneck effect
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A functionally dominant mitochondrial DNA mutation.
@ast
A functionally dominant mitochondrial DNA mutation.
@en
type
label
A functionally dominant mitochondrial DNA mutation.
@ast
A functionally dominant mitochondrial DNA mutation.
@en
prefLabel
A functionally dominant mitochondrial DNA mutation.
@ast
A functionally dominant mitochondrial DNA mutation.
@en
P2093
P2860
P356
P1476
A functionally dominant mitochondrial DNA mutation.
@en
P2093
Claude Desnuelle
Darryl C De Vivo
Eduardo Bonilla
Eric A Schon
Eva Trevisson
Evelyn Hernandez-Rosa
Leonardo Salviati
Mercy M Davidson
Michio Hirano
Sabrina Sacconi
P2860
P304
P356
10.1093/HMG/DDN073
P577
2008-03-12T00:00:00Z