(Q34615471)

3 August 2017

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland (English)

1 reference

Leber hereditary optic neuropathy

3 August 2017

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1 reference

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Anu Puomila

1

1 reference

3 August 2017

Petra Hämäläinen

2

1 reference

3 August 2017

Sanna Kivioja

3

1 reference

3 August 2017

Marja-Liisa Savontaus

4

1 reference

3 August 2017

Satu Koivumäki

5

1 reference

3 August 2017

Kirsi Huoponen

6

1 reference

3 August 2017

Eeva Nikoskelainen

7

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3 August 2017

4 April 2007

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European Journal of Human Genetics

3 August 2017

1 reference

3 August 2017

15

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3 August 2017

10

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3 August 2017

1079-1089

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201828

3 August 2017

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cites work

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

The epidemiology of Leber hereditary optic neuropathy in the North East of England

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Low penetrance of the 14484 LHON mutation when it arises in a non‐haplogroup J mtDNA background

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

LEBER'S DISEASE IN THE NETHERLANDS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Genetic counseling in Leber hereditary optic neuropathy (LHON).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

Leber hereditary optic neuropathy in Australia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

Expression of genes from the human active and inactive X chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

The epidemiology of pathogenic mitochondrial DNA mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

The inheritance of Leber's disease. A genealogical follow-up study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

mtDNA haplogroup J: a contributing factor of optic neuritis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201828

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201828

1 reference

release_l6n2q3nqkngbhnojyjpywvxyqe

3 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/l6n2q3nqkngbhnojyjpywvxyqe

24 November 2022

mapped directly with Wikidata item

1 reference