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Items: 1 to 20 of 189

1.
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Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.

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

Genomics. 1990 Nov;8(3):583-5.

PMID:
2286378
4.
6.

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
9.

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
10.

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.

11.

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

Carelli V, Ghelli A, Ratta M, Bacchilega E, Sangiorgi S, Mancini R, Leuzzi V, Cortelli P, Montagna P, Lugaresi E, Degli Esposti M.

Neurology. 1997 Jun;48(6):1623-32.

PMID:
9191778
13.

Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON).

Ghelli A, Degli Esposti M, Carelli V, Lenaz G.

Mol Aspects Med. 1997;18 Suppl:S263-7.

PMID:
9266534
14.

The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain.

Oostra RJ, Van Galen MJ, Bolhuis PA, Bleeker-Wagemakers EM, Van den Bogert C.

Biochem Biophys Res Commun. 1995 Oct 24;215(3):1001-5.

PMID:
7488023
15.

Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery.

Pezzi PP, De Negri AM, Sadun F, Carelli V, Leuzzi V.

Pediatr Neurol. 1998 Oct;19(4):308-12.

PMID:
9831004
17.

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing.

Juvonen V, Huoponen K, Syvänen AC, Nikoskelainen E, Savontaus ML.

Hum Genet. 1994 Jan;93(1):16-20.

PMID:
8270249
19.

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy.

Cock HR, Tabrizi SJ, Cooper JM, Schapira AH.

Ann Neurol. 1998 Aug;44(2):187-93.

PMID:
9708540
20.

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.

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