Literature DB >> 7573056

Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

R J Oostra, C Van den Bogert, L G Nijtmans, M J van Galen, R Zwart, P A Bolhuis, E M Bleeker-Wagemakers.   

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Year:  1995        PMID： 7573056      PMCID： PMC1801504     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  18 in total

1.  A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

Authors:  D Mackey; N Howell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

2.  An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

Authors:  D R Johns; M J Neufeld; R D Park
Journal:  Biochem Biophys Res Commun       Date:  1992-09-30       Impact factor: 3.575

3.  Quantification of mitochondrial proteins in cultured cells by immuno-flow cytometry.

Authors:  C Van den Bogert; A Pennings; H L Dekker; K Luciaková; J B Boezeman; K M Sinjorgo
Journal:  Biochim Biophys Acta       Date:  1991-09-23

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.  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.  Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy.

Authors:  D R Johns; M J Neufeld; T R Hedges
Journal:  J Neuroophthalmol       Date:  1994-09       Impact factor: 3.042

7.  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

8.  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

9.  Isoforms of human cytochrome-c oxidase. Subunit composition and steady-state kinetic properties.

Authors:  A B Van Kuilenburg; H L Dekker; C Van den Bogert; P Nieboer; B F Van Gelder; A O Muijsers
Journal:  Eur J Biochem       Date:  1991-08-01

10.  A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

Authors:  A S Jun; M D Brown; D C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1994-06-21       Impact factor: 11.205
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  1 in total

1.  Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.

Authors:  Byung-Ok Choi; Jung Hee Hwang; Eun Min Cho; Eun Hye Jeong; Young Se Hyun; Hyeon Jeong Jeon; Ki Min Seong; Nam Soo Cho; Ki Wha Chung
Journal:  Exp Mol Med       Date:  2010-06-30       Impact factor: 8.718
  1 in total

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