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Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy.

作者信息

Federico A, Manneschi L, Meloni M, Alessandrini C, Bardelli A M, Dotti M T, Sabatelli P

机构信息

Istituto di Scienze Neurologiche e Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italy.

出版信息

J Inherit Metab Dis. 1988;11 Suppl 2:193-7. doi: 10.1007/BF01804233.

DOI:10.1007/BF01804233
PMID:2846962
Abstract
摘要

相似文献

1
Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy.
J Inherit Metab Dis. 1988;11 Suppl 2:193-7. doi: 10.1007/BF01804233.
2
Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegia.成人慢性进行性外眼肌麻痹患者肌肉线粒体的形态计量学和生化研究
J Inherit Metab Dis. 1988;11 Suppl 2:198-201. doi: 10.1007/BF01804234.
3
A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.
N Engl J Med. 1989 May 18;320(20):1331-3. doi: 10.1056/NEJM198905183202007.
4
Leber's hereditary optic neuropathy and complex I deficiency in muscle.莱伯遗传性视神经病变与肌肉中的复合体I缺乏症。
Ann Neurol. 1991 Nov;30(5):701-8. doi: 10.1002/ana.410300511.
5
Platelet mitochondrial function in Leber's hereditary optic neuropathy.莱伯遗传性视神经病变中的血小板线粒体功能
J Neurol Sci. 1994 Mar;122(1):80-3. doi: 10.1016/0022-510x(94)90055-8.
6
Rhodanese isozymes in three subjects with Leber's optic neuropathy.三名患有Leber视神经病变患者体内的硫氰酸酶同工酶
J Med Genet. 1989 Feb;26(2):113-5. doi: 10.1136/jmg.26.2.113.
7
Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions.伴有破碎红纤维和多种线粒体DNA缺失的肌阵挛性癫痫
Neurology. 1998 Feb;50(2):524-5. doi: 10.1212/wnl.50.2.524.
8
The heterogeneity of Leber's congenital amaurosis.莱伯先天性黑矇的异质性。
J Inherit Metab Dis. 1989;12 Suppl 2:361-4. doi: 10.1007/BF03335423.
9
Leber's hereditary optic neuropathy: mitochondrial and biochemical studies on muscle biopsies.莱伯遗传性视神经病变:肌肉活检的线粒体及生化研究
Br J Ophthalmol. 1987 Jul;71(7):531-6. doi: 10.1136/bjo.71.7.531.
10
On the stability of key enzymes of energy metabolism in muscle biopsies.关于肌肉活检中能量代谢关键酶的稳定性
Enzyme. 1990;43(4):183-7. doi: 10.1159/000468729.

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Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.双等位基因NSUN3变异导致多种表型谱疾病:从孤立性视神经萎缩到严重早发性线粒体疾病。
Invest Ophthalmol Vis Sci. 2025 Jun 2;66(6):17. doi: 10.1167/iovs.66.6.17.

本文引用的文献

1
Decreased thiosulfate sulfur transferase (rhodanese) in Leber's hereditary optic atrophy.莱伯遗传性视神经萎缩症中硫代硫酸盐硫转移酶(硫氰酸酶)减少。
Klin Wochenschr. 1984 Sep 17;62(18):850-4. doi: 10.1007/BF01712000.
2
Leber's disease with spastic paraplegia and peripheral neuropathy. Case report with nerve biopsy study.伴有痉挛性截瘫和周围神经病变的莱伯病。病例报告及神经活检研究
Eur Neurol. 1983;22(3):181-5. doi: 10.1159/000115557.
3
Leber's hereditary optic neuroretinopathy, a mitochondrial disease?莱伯遗传性视神经视网膜病变,一种线粒体疾病?
Lancet. 1984 Dec 22;2(8417-8418):1474. doi: 10.1016/s0140-6736(84)91669-6.
4
Leber's disease and dystonia: a mitochondrial disease.莱伯病与肌张力障碍:一种线粒体疾病。
Neurology. 1986 Aug;36(8):1053-60. doi: 10.1212/wnl.36.8.1053.
5
Normal rhodanese activity in leukocytes from Leber patients: enzyme characterization and activity levels.
Neurology. 1987 Dec;37(12):1878-80. doi: 10.1212/wnl.37.12.1878.
6
Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy.莱伯遗传性视神经病变中硫代硫酸盐硫转移酶(硫氰酸酶)缺乏症
Br Med J (Clin Res Ed). 1986 May 10;292(6530):1229-30. doi: 10.1136/bmj.292.6530.1229.
7
Rhodanese-Mediated sulfur transfer to succinate dehydrogenase.硫氰酸酶介导的硫向琥珀酸脱氢酶的转移。
Eur J Biochem. 1977 Jan 3;72(1):17-24. doi: 10.1111/j.1432-1033.1977.tb11219.x.