Mitochondrial DNA mutation underlying Leigh's syndrome: Clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy-Reference-Cited by-同舟云学术

Mitochondrial DNA mutation underlying Leigh's syndrome: Clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy

Published:1994-01 Issue:1 Volume:121 Page:57-65
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Sweeney M.G.,Hammans S.R.,Duchen L.W.,Cooper J.M.,Schapira A.H.V.,Kennedy C.R.,Jacobs J.M.,Youl B.D.,Morgan-Hughes J.A.,Harding A.E.

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference34 articles.

1. Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectroscopic and positron emission tomographic study;Berkovic;Brain,1989

2. Clinical spectrum of mitochondrial DNA mutation at base pair 8344;Berkovic;Lancet,1991

3. Distribution and threshold expression of the tRNA Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF);Boulet;Am. J. Hum. Genet.,1992

4. Pyruvate dehydrogenase E1 deficiency;Brown;J. Inherit. Metab. Dis.,1992

5. Chronic administration of the oral hypoglycaemic agent diphenyleneiodonium to rats: animal model of impaired oxidative phosphorylation (mitochondrial myopathy);Cooper;Biochem. Pharmacol.,1988

Cited by 50 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Primary cilia formation requires the Leigh syndrome–associated mitochondrial protein NDUFAF2;Journal of Clinical Investigation;2024-07-01

2. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum;Annals of Neurology;2023-08-12

3. Mitochondrial Neurodegeneration;Cells;2022-02-11

4. Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review;eBioMedicine;2022-02

5. Leigh Syndrome: A Tale of Two Genomes;Frontiers in Physiology;2021-08-11