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Literature DB >> 7977345

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

B Obermaier-Kusser, B Lorenz, S Schubring, A Paprotta, K Zerres, T Meitinger, F Meire, P Cochaux, A Blankenagel, G Kommerell.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1994 PMID： 7977345 PMCID： PMC1918326

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

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19 in total

1. No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON.

Authors: K D Gerbitz; A Paprotta; B Obermaier-Kusser; M Rietschel; K Zerres
Journal: FEBS Lett Date: 1992-12-21 Impact factor: 4.124

Review 2. 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

3. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

Authors: D R Johns; J Berman
Journal: Biochem Biophys Res Commun Date: 1991-02-14 Impact factor: 3.575

4. Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

Authors: I J Holt; D H Miller; A E Harding
Journal: J Med Genet Date: 1989-12 Impact factor: 6.318

5. Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.

Authors: N Howell; I Kubacka; S Halvorson; D Mackey
Journal: Genetics Date: 1993-01 Impact factor: 4.562

6. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Authors: N Howell; I Kubacka; M Xu; D A McCullough
Journal: Am J Hum Genet Date: 1991-05 Impact factor: 11.025

Review 7. Leber's hereditary optic neuropathy. New genetic considerations.

Authors: N J Newman
Journal: Arch Neurol Date: 1993-05

8. Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees.

Authors: E K Nikoskelainen; M L Savontaus; O P Wanne; M J Katila; K U Nummelin
Journal: Arch Ophthalmol Date: 1987-05

9. Variable genotype of Leber's hereditary optic neuropathy patients.

Authors: M T Lott; A S Voljavec; D C Wallace
Journal: Am J Ophthalmol Date: 1990-06-15 Impact factor: 5.258

10. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.

Authors: D R Johns; K L Heher; N R Miller; K H Smith
Journal: Arch Ophthalmol Date: 1993-04

12 in total

1. Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.

Authors: Xiaoyun Jia; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang
Journal: J Hum Genet Date: 2006-09-14 Impact factor: 3.172

2. Characterization of basal ganglia dysfunction in Leber 'plus' disease.

Authors: C O Hanemann; H Hefter; G Schlaug; R J Seitz; H J Freund; R Benecke
Journal: J Neurol Date: 1996-03 Impact factor: 4.849

3. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

Authors: D A Mackey; R J Oostra; T Rosenberg; E Nikoskelainen; J Bronte-Stewart; J Poulton; A E Harding; G Govan; P A Bolhuis; S Norby
Journal: Am J Hum Genet Date: 1996-08 Impact factor: 11.025

4. Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations.

Authors: S Hofmann; R Bezold; M Jaksch; P Kaufhold; B Obermaier-Kusser; K D Gerbitz
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

5. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

Authors: M D Brown; F Sun; D C Wallace
Journal: Am J Hum Genet Date: 1997-02 Impact factor: 11.025