(Q30853128)

16 August 2017

Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation (English)

1 reference

16 August 2017

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1 reference

Michael K Yoon

1

1 reference

16 August 2017

Austin Roorda

2

1 reference

16 August 2017

Yuhua Zhang

3

1 reference

16 August 2017

Chiaki Nakanishi

4

1 reference

16 August 2017

Lee-Jun C Wong

5

1 reference

16 August 2017

Qing Zhang

6

1 reference

16 August 2017

Leslie Gillum

7

1 reference

16 August 2017

Ari Green

8

1 reference

16 August 2017

Jacque L Duncan

9

1 reference

16 August 2017

language of work or name

English

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publication date

7 November 2008

1 reference

Investigative Ophthalmology Visual Science

16 August 2017

1 reference

16 August 2017

50

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16 August 2017

4

1 reference

16 August 2017

1838-1847

1 reference

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

High-resolution in vivo imaging of the RPE mosaic in eyes with retinal disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

High-resolution retinal imaging of cone-rod dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

In vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Three-dimensional analysis of mouse rod and cone mitochondrial cristae architecture: bioenergetic and functional implications.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Functional consequences of the relative numbers of L and M cones

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Cone and rod dysfunction in the NARP syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

The arrangement of the three cone classes in the living human eye.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Automated identification of cone photoreceptors in adaptive optics retinal images

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

The structure-function correlates of mammalian rod and cone photoreceptor mitochondria: observations and unanswered questions

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Standard for clinical electroretinography (2004 update).

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

The reflectance of single cones in the living human eye.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Optical fiber properties of individual human cones

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Photoreceptor inner segments in monkey and human retina: mitochondrial density, optics, and regional variation

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Color perception is mediated by a plastic neural mechanism that is adjustable in adults

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Packing arrangement of the three cone classes in primate retina

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Phenotypic variability in a family with a mitochondrial DNA T8993C mutation.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836613

Supernormal vision and high-resolution retinal imaging through adaptive optics

25 November 2018

1 reference

12 December 2020

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

1 reference

12 December 2020

Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

1 reference

12 December 2020

Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation

1 reference

12 December 2020

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

1 reference

12 December 2020

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

1 reference

12 December 2020

Chronic progressive external ophthalmoplegia (CPEO): Clinical, morphologic, and biochemical studies

1 reference

12 December 2020

Modelling the mosaic organization of rod and cone photoreceptors with a minimal-spacing rule

1 reference

12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

12 December 2020

Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach

1 reference

12 December 2020

Aberrations and retinal image quality of the normal human eye

1 reference

12 December 2020

Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA

1 reference

12 December 2020

Mitochondrial cytopathies

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.08-2029

1 reference

release_ruutnvfwzbfihbroudjna6ioia

16 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ruutnvfwzbfihbroudjna6ioia

24 November 2022

mapped directly with Wikidata item

1 reference

16 August 2017

PubMed publication ID

18997096

1 reference