Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families (Q78454720)

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14 December 2019

title

Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families (English)

1 reference

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14 December 2019

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Anu Puomila

1

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14 December 2019

Tommi Viitanen

2

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14 December 2019

Marja Liisa Savontaus

3

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14 December 2019

Eeva Nikoskelainen

4

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14 December 2019

Kirsi Huoponen

5

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14 December 2019

publication date

1 December 2002

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Journal of the Neurological Sciences

14 December 2019

number of pages

5

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inferred from page(s)

published in

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14 December 2019

volume

205

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14 December 2019

issue

1

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14 December 2019

page(s)

41-45

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

14 December 2019

cites work

1 reference

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

7 January 2021

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Heteroplasmy in Leber's hereditary optic neuropathy

7 January 2021

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Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

7 January 2021

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MELAS: clinical features, biochemistry, and molecular genetics

7 January 2021

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Leber's hereditary optic neuropathy and complex I deficiency in muscle

7 January 2021

1 reference

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

7 January 2021

1 reference

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Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

7 January 2021

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

7 January 2021

1 reference

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

7 January 2021

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Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation

7 January 2021

1 reference

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The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness.

7 January 2021

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

7 January 2021

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Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals

7 January 2021

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Genetic counseling in Leber hereditary optic neuropathy (LHON).

7 January 2021

1 reference

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

7 January 2021

1 reference

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Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy

7 January 2021

1 reference

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Variable genotype of Leber's hereditary optic neuropathy patients.

7 January 2021

1 reference

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Variable levels of a heteroplasmic point mutation in individual hair roots

7 January 2021

1 reference

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Heteroplasmy of the human mtDNA control region remains constant during life

7 January 2021

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The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900276-9

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-510X(02)00276-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409182%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference