Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.
about
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.Mitochondrial myopathy: a genetic study of 71 casesMitochondrial DNA disease-molecular insights and potential routes to a cureFrataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranesMitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current conceptsWobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial diseaseHistorical perspective on mitochondrial medicineExpanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.Biochemical studies in mitochondrial encephalomyopathy.A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscleComparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutationRegionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome).Progressive ataxia, focal seizures, and malabsorption syndrome in a 41 year old woman.Mitochondrial myopathies and encephalomyopathies.Encephalomyelitis, brain tumors, neuromuscular diseases and miscellaneous disorders.Thymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in miceMELAS syndromeAdvances in the genetics of progressive myoclonus epilepsy.Mitochondrial DNA: impacting central and peripheral nervous systems.Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.Megamitochondria formation - physiology and pathology.Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndromeDistribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.In vivo functional investigations of lactic acid in patients with respiratory chain disorders.Pathophysiology of pediatric movement disorders.The MELAS syndrome. Review of the literature: the role of the otologist.Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system?Epilepsy in adults with mitochondrial disease: A cohort study.The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndromeDelirium associated with Joseph diseaseMitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?"Mitochondrial myopathy" or mitochondrial disease? EEG, ERG, VEP studies in 13 childrenMitochondrial DNA abnormalities in ophthalmological disease.A typical case of myoclonic epilepsy with ragged red fibers (MERRF) and the lessons learned.Organic acidurias: a review. Part 1.Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies.
P2860
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P2860
Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.
description
1980 nî lūn-bûn
@nan
1980 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1980 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
name
Myoclonus epilepsy associated ...... ases and review of literature.
@ast
Myoclonus epilepsy associated ...... ases and review of literature.
@en
Myoclonus epilepsy associated with ragged-red fibres
@nl
type
label
Myoclonus epilepsy associated ...... ases and review of literature.
@ast
Myoclonus epilepsy associated ...... ases and review of literature.
@en
Myoclonus epilepsy associated with ragged-red fibres
@nl
prefLabel
Myoclonus epilepsy associated ...... ases and review of literature.
@ast
Myoclonus epilepsy associated ...... ases and review of literature.
@en
Myoclonus epilepsy associated with ragged-red fibres
@nl
P2093
P1476
Myoclonus epilepsy associated ...... ases and review of literature.
@en
P2093
Fukuhara N
Shirakawa K
Tokiguchi S
P304
P356
10.1016/0022-510X(80)90031-3
P577
1980-07-01T00:00:00Z