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Results: 1 to 20 of 102

1.

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

Howell N, Kubacka I, Xu M, McCullough DA.

Am J Hum Genet. 1991 May;48(5):935-42.

PMID:
2018041
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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

Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM.

Am J Hum Genet. 1991 Nov;49(5):939-50.

PMID:
1928099
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

Howell N, McCullough D.

Am J Hum Genet. 1990 Oct;47(4):629-34.

PMID:
2121024
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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

De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA.

Am J Hum Genet. 1996 Apr;58(4):703-11.

PMID:
8644732
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N.

Brain. 2001 Jan;124(Pt 1):209-18.

PMID:
11133798
[PubMed - indexed for MEDLINE]
Free Article
6.
7.

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.

Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B.

Biochem Biophys Res Commun. 1997 May 19;234(2):511-5.

PMID:
9177303
[PubMed - indexed for MEDLINE]
8.

Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

Besch D, Leo-Kottler B, Zrenner E, Wissinger B.

Graefes Arch Clin Exp Ophthalmol. 1999 Sep;237(9):745-52.

PMID:
10447650
[PubMed - indexed for MEDLINE]
9.

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.

Carducci C, Leuzzi V, Scuderi M, De Negri AM, Gabrieli CB, Antonozzi I, Pontecorvi A.

Hum Genet. 1991 Oct;87(6):725-7.

PMID:
1937476
[PubMed - indexed for MEDLINE]
10.

[A case of Leber optic neuropathy with a new point mutation in the cytochrome b gene].

Besch D, Wissinger B, Zrenner E, Leo-Kotter B.

Ophthalmologe. 2000 Jan;97(1):22-6. German.

PMID:
10663786
[PubMed - indexed for MEDLINE]
11.

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B.

Ger J Ophthalmol. 1996 Jul;5(4):233-40.

PMID:
8854108
[PubMed - indexed for MEDLINE]
12.

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML.

Hum Genet. 1993 Oct;92(4):379-84.

PMID:
7901141
[PubMed - indexed for MEDLINE]
13.

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.

Howell N, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM, Kubacka I.

J Neuroophthalmol. 2002 Dec;22(4):262-9.

PMID:
12464729
[PubMed - indexed for MEDLINE]
14.

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

Johns DR, Neufeld MJ, Park RD.

Biochem Biophys Res Commun. 1992 Sep 30;187(3):1551-7.

PMID:
1417830
[PubMed - indexed for MEDLINE]
15.
16.

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML.

Am J Hum Genet. 1991 Jun;48(6):1147-53.

PMID:
1674640
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.

Cavelier L, Gyllensten U, Dahl N.

Clin Genet. 1993 Feb;43(2):69-72.

PMID:
8448903
[PubMed - indexed for MEDLINE]
18.

The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy.

Tong Y, Mao Y, Zhou X, Yang L, Zhang J, Cai W, Zhao F, Wang X, Lu F, Qu J, Guan MX.

Biochem Biophys Res Commun. 2007 Jun 1;357(2):524-30. Epub 2007 Apr 9.

PMID:
17434142
[PubMed - indexed for MEDLINE]
19.

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

Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikström M.

FEBS Lett. 1991 Nov 4;292(1-2):289-92.

PMID:
1959619
[PubMed - indexed for MEDLINE]
Free Article
20.

Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.

Leo-Kottler B, Luberichs J, Besch D, Christ-Adler M, Fauser S.

Graefes Arch Clin Exp Ophthalmol. 2002 Sep;240(9):758-64. Epub 2002 Aug 2.

PMID:
12271374
[PubMed - indexed for MEDLINE]

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