Literature DB >> 7609444

Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease.

J C Cornelissen1, R J Wanders, P A Bolhuis, E Bleeker-Wagemakers, R J Oostra, F A Wijburg.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 7609444     DOI： 10.1007/BF00711673

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  7 in total

Review 1.  Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

Authors:  M D Brown; A S Voljavec; M T Lott; I MacDonald; D C Wallace
Journal:  FASEB J       Date:  1992-07       Impact factor: 5.191

2.  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

3.  Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts.

Authors:  F A Wijburg; N Feller; W Ruitenbeek; J M Trijbels; R C Sengers; H R Scholte; H Przyrembel; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

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

Authors:  W D Parker; C A Oley; J K Parks
Journal:  N Engl J Med       Date:  1989-05-18       Impact factor: 91.245

5.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

6.  Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

Authors:  A Majander; K Huoponen; M L Savontaus; E Nikoskelainen; M Wikström
Journal:  FEBS Lett       Date:  1991-11-04       Impact factor: 4.124

7.  Leber's hereditary optic neuropathy and complex I deficiency in muscle.

Authors:  N G Larsson; O Andersen; E Holme; A Oldfors; J Wahlström
Journal:  Ann Neurol       Date:  1991-11       Impact factor: 10.422
  7 in total
  1 in total

1.  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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.