MELAS: clinical features, biochemistry, and molecular genetics.
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MitochondriaWhen should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathyMitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current conceptsMitochondrial DNA disease and developmental implications for reproductive strategiesIncreased 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).Diagnosis and management of MELAS.A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.Episodic migraine associated with postural orthostatic tachycardia syndrome and vasovagal syncope: migraine triggers neuromediated syncope.The ophthalmologic manifestations of mitochondrial disease.What cost mitochondria? The maintenance of functional mitochondrial DNA within and across generations.Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed.Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafnessMitochondrial DNA mutations and mitochondrial dysfunction in epilepsy.MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.Mitochondrial myopathies and encephalomyopathies.Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.Random genetic drift determines the level of mutant mtDNA in human primary oocytesMitochondrial myopathies and the role of the pathologist in the molecular era.MELAS syndromeIdentification and management of difficult stroke and TIA syndromes.Stroke genomics: approaches to identify, validate, and understand ischemic stroke gene expression.Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.Medical care from childhood to adulthood in type 1 and type 2 diabetes.Mitochondrial disorders with significant ophthalmic manifestations.Heteroplasmy and organelle gene dynamics.Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy.Genetic aspects of stroke: human and experimental studies.The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndromeTechniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.Mitochondrial DNA mutations in the hematopoietic system.Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotypeThe NADH:ubiquinone oxidoreductase (complex I) of respiratory chains.Wolff-Parkinson-white syndrome in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndromeA method for mutagenesis of mouse mtDNA and a resource of mouse mtDNA mutations for modeling human pathological conditions.Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).
P2860
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P2860
MELAS: clinical features, biochemistry, and molecular genetics.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh-hant
name
MELAS: clinical features, biochemistry, and molecular genetics.
@en
MELAS: clinical features, biochemistry, and molecular genetics.
@nl
type
label
MELAS: clinical features, biochemistry, and molecular genetics.
@en
MELAS: clinical features, biochemistry, and molecular genetics.
@nl
prefLabel
MELAS: clinical features, biochemistry, and molecular genetics.
@en
MELAS: clinical features, biochemistry, and molecular genetics.
@nl
P2093
P2860
P356
P1433
P1476
MELAS: clinical features, biochemistry, and molecular genetics.
@en
P2093
C T Moraes
E Ciafaloni
G Silvestri
M A Donati
S Simonetti
P2860
P304
P356
10.1002/ANA.410310408
P577
1992-04-01T00:00:00Z