(Q44530509)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12888043%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy (English)

1 reference

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6 November 2019

author

Maria Lucia Valentino

13

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6 November 2019

Valerio Carelli

2

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6 November 2019

Adriana Berezovsky

4

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6 November 2019

Rubens Belfort, Jr

15

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6 November 2019

author name string

Alfredo A Sadun

1

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6 November 2019

Solange R Salomao

3

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6 November 2019

Peter A Quiros

5

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6 November 2019

Federico Sadun

6

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6 November 2019

Anna Maria DeNegri

7

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6 November 2019

Rafael Andrade

8

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6 November 2019

Milton Moraes

9

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6 November 2019

Angelo Passos

10

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6 November 2019

Patrícia Kjaer

11

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6 November 2019

Josenilson Pereira

12

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6 November 2019

Stan Schein

14

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6 November 2019

language of work or name

English

0 references

publication date

1 August 2003

1 reference

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American Journal of Ophthalmology

6 November 2019

published in

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6 November 2019

volume

136

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6 November 2019

issue

2

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6 November 2019

page(s)

231-238

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Chapter 4 Leber's Hereditary Optic Neuropathy

6 November 2019

cites work

1 reference

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Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies

7 January 2021

1 reference

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Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case

7 January 2021

1 reference

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

7 January 2021

1 reference

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The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

7 January 2021

1 reference

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Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

7 January 2021

1 reference

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mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A.

7 January 2021

1 reference

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alpha-Tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

Human mitochondrial diseases: answering questions and questioning answers

7 January 2021

1 reference

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Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

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

7 January 2021

1 reference

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A case-control study of Leber's hereditary optic neuropathy.

7 January 2021

1 reference

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Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy

7 January 2021

1 reference

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A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy

7 January 2021

1 reference

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The influence of cigarette smoking on circulating concentrations of antioxidant micronutrients

7 January 2021

1 reference

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Alterations of plasma antioxidants and mitochondrial DNA mutation in hair follicles of smokers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900099-0

Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy

7 January 2021

1 reference

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Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans

7 January 2021

1 reference

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10.1016/S0002-9394(03)00099-0

7 January 2021

Identifiers

DOI

1 reference

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6 November 2019

1 reference