Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study (Q24683787)

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30 December 2019

title

Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17471325%20AND%20SRC:MED&resulttype=core&format=json

Leber hereditary optic neuropathy

30 December 2019

main subject

1 reference

12

0 references

Piero Barboni

9

object named as

Piero Barboni

1 reference

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30 December 2019

10

Jerome Sherman

1 reference

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30 December 2019

author name string

Alfredo A Sadun

1

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30 December 2019

Solange R Salomao

2

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30 December 2019

Adriana Berezovsky

3

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30 December 2019

Federico Sadun

4

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30 December 2019

Anna Maria Denegri

5

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30 December 2019

Peter A Quiros

6

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30 December 2019

Filipe Chicani

7

1 reference

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30 December 2019

Dora Ventura

8

1 reference

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30 December 2019

Erich Sutter

11

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30 December 2019

Valerio Carelli

13

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30 December 2019

Rubens Belfort

12

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30 December 2019

language of work or name

English

0 references

publication date

1 January 2006

1 reference

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Transactions of the American Ophthalmological Society annual meeting

30 December 2019

published in

2 references

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30 December 2019

volume

104

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30 December 2019

page(s)

51-61

1 reference

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

30 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Mitochondrial dysfunction as a cause of optic neuropathies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Influence of disease severity and optic disc size on the diagnostic performance of imaging instruments in glaucoma

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Adenosine triphosphate deficiency: a genre of optic neuropathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Multifocal electroretinograms combined with periodic flashes: direct responses and induced components

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Optic neuropathy after treatment with anti-tuberculous drugs in a subject with Leber's hereditary optic neuropathy mutation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Baseline visual field profile of optic neuritis. The experience of the optic neuritis treatment trial. Optic Neuritis Study Group

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809912

Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy

28 November 2018

1 reference

12 December 2020

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17471325%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

PubMed publication ID

17471325

1 reference