Literature DB >> 2497346

A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

W D Parker1, C A Oley, J K Parks.   

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Year:  1989        PMID: 2497346     DOI: 10.1056/NEJM198905183202007

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  26 in total

1.  Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy.

Authors:  S Malik; H Sudoyo; S Marzuki
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

2.  Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy.

Authors:  D R Johns
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

3.  Complex I deficiency in Parkinson's disease frontal cortex.

Authors:  W Davis Parker; Janice K Parks; Russell H Swerdlow
Journal:  Brain Res       Date:  2007-11-01       Impact factor: 3.252

4.  Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Authors:  N Howell; L A Bindoff; D A McCullough; I Kubacka; J Poulton; D Mackey; L Taylor; D M Turnbull
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

5.  X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.

Authors:  X D Bu; J I Rotter
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-15       Impact factor: 11.205

Review 6.  The neurodegenerative mitochondriopathies.

Authors:  Russell H Swerdlow
Journal:  J Alzheimers Dis       Date:  2009       Impact factor: 4.472

7.  Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.

Authors:  J Vilkki; M L Savontaus; E K Nikoskelainen
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

8.  Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.

Authors:  M Y Yen; H C Lee; J H Liu; Y H Wei
Journal:  Br J Ophthalmol       Date:  1996-01       Impact factor: 4.638

9.  Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

Authors:  D D De Vries; L N Went; G W Bruyn; H R Scholte; R M Hofstra; P A Bolhuis; B A van Oost
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

Review 10.  Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature.

Authors:  J M Schröder; C Sommer
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

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