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Literature DB >> 8213825

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

N Howell, S Halvorson, J Burns, D A McCullough, J Paulton.

Abstract

Entities: Disease Mutation

Mesh：

Substances：
DNA, Mitochondrial

Year: 1993 PMID： 8213825 PMCID： PMC1682377

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

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28 in total

1. 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

2. A critical evaluation of the hydropathy profile of membrane proteins.

Authors: M Degli Esposti; M Crimi; G Venturoli
Journal: Eur J Biochem Date: 1990-05-31

3. Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.

Authors: J Vilkki; M L Savontaus; E K Nikoskelainen
Journal: Am J Hum Genet Date: 1989-08 Impact factor: 11.025

4. A conformational preference parameter to predict helices in integral membrane proteins.

Authors: J K Mohana Rao; P Argos
Journal: Biochim Biophys Acta Date: 1986-01-30

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. A simple method for displaying the hydropathic character of a protein.

Authors: J Kyte; R F Doolittle
Journal: J Mol Biol Date: 1982-05-05 Impact factor: 5.469

7. Structure and expression of the overlapping ND4L and ND5 genes of Neurospora crassa mitochondria.

Authors: M A Nelson; G Macino
Journal: Mol Gen Genet Date: 1987-02

8. Evolutionary conservation of protein regions in the protonmotive cytochrome b and their possible roles in redox catalysis.

Authors: N Howell
Journal: J Mol Evol Date: 1989-08 Impact factor: 2.395

9. 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

10. Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy.

Authors: F X Borruat; W T Green; E M Graham; M G Sweeney; J A Morgan-Hughes; M D Sanders
Journal: Br J Ophthalmol Date: 1992-09 Impact factor: 4.638

16 in total

1. 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

2. Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation.

Authors: G C Black; K Morten; A Laborde; J Poulton
Journal: Br J Ophthalmol Date: 1996-10 Impact factor: 4.638

Review 3. Molecular basis of mitochondrial DNA disease.

Authors: M D Brown; D C Wallace
Journal: J Bioenerg Biomembr Date: 1994-06 Impact factor: 2.945

4. Mitochondrial gene mutations and human diseases: a prolegomenon.

Authors: N Howell
Journal: Am J Hum Genet Date: 1994-08 Impact factor: 11.025

Review 5. Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

Authors: N Howell
Journal: J Bioenerg Biomembr Date: 1997-04 Impact factor: 2.945

Review 6. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors: Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal: Prog Retin Eye Res Date: 2010-11-26 Impact factor: 21.198

Review 7. The importance of mitochondria in age-related and inherited eye disorders.

Authors: Stuart G Jarrett; Alfred S Lewin; Michael E Boulton
Journal: Ophthalmic Res Date: 2010-09-09 Impact factor: 2.892

Review 8. Leber hereditary optic neuropathy.

Authors: P Yu-Wai-Man; D M Turnbull; P F Chinnery
Journal: J Med Genet Date: 2002-03 Impact factor: 6.318

Review 9. A review of primary hereditary optic neuropathies.

Authors: M Votruba; S Aijaz; A T Moore
Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982

10. Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.

Authors: Rajeshwari D Koilkonda; John Guy
Journal: J Ophthalmol Date: 2010-12-26 Impact factor: 1.909