(Q34330915)

1 August 2017

title

A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy (English)

1 reference

hereditary optic neuropathy

1 August 2017

main subject

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Alfredo A Sadun

1

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1 August 2017

Valerio Carelli

2

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1 August 2017

Solange R Salomao

3

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1 August 2017

Adriana Berezovsky

4

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1 August 2017

Peter Quiros

5

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1 August 2017

Federico Sadun

6

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1 August 2017

Anna-Maria DeNegri

7

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1 August 2017

Rafael Andrade

8

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1 August 2017

Stan Schein

9

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1 August 2017

Rubens Belfort

10

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1 August 2017

publication date

1 January 2002

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Transactions of the American Ophthalmological Society annual meeting

1 August 2017

published in

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1 August 2017

volume

100

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1 August 2017

page(s)

169-78; discussion 178-9

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Mitochondrial optic neuropathies

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

Acquired mitochondrial impairment as a cause of optic nerve disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1358960

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation

27 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Cerebellar ataxia in patients with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Human mitochondrial diseases: answering questions and questioning answers

1 reference

12 December 2020

Titrating the effects of mitochondrial complex I impairment in the cell physiology

1 reference

12 December 2020

Identifiers

PMC publication ID

1358960

1 reference

1 August 2017

1 reference