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

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Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1167/IOVS.08-2029
P8608Fatcat IDrelease_ruutnvfwzbfihbroudjna6ioia
P932PMC publication ID4836613
P698PubMed publication ID18997096

P2093author name stringAustin Roorda
Qing Zhang
Michael K Yoon
Yuhua Zhang
Jacque L Duncan
Ari Green
Chiaki Nakanishi
Lee-Jun C Wong
Leslie Gillum
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Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is highQ33208167
High-resolution retinal imaging of cone-rod dystrophyQ33241647
High-resolution in vivo imaging of the RPE mosaic in eyes with retinal diseaseQ33282840
High-resolution imaging with adaptive optics in patients with inherited retinal degenerationQ33288807
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Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindnessQ34321474
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993Q34390017
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A new mitochondrial disease associated with mitochondrial DNA heteroplasmyQ34627393
Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiencyQ36152943
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six familiesQ36316862
In vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual functionQ36973449
Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.Q39364834
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studiesQ40507676
Functional consequences of the relative numbers of L and M conesQ41723779
Packing arrangement of the three cone classes in primate retinaQ43588716
Color perception is mediated by a plastic neural mechanism that is adjustable in adultsQ44113672
Photoreceptor inner segments in monkey and human retina: mitochondrial density, optics, and regional variationQ44268744
Optical fiber properties of individual human conesQ44392243
The reflectance of single cones in the living human eye.Q44595317
Standard for clinical electroretinography (2004 update).Q45084219
Automated identification of cone photoreceptors in adaptive optics retinal imagesQ46533352
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Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic studyQ48117343
Phenotypic variability in a family with a mitochondrial DNA T8993C mutationQ48341841
Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant loadQ48612981
Leigh syndrome: clinical features and biochemical and DNA abnormalities.Q49107059
High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromesQ49197990
Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.Q52166938
Chronic progressive external ophthalmoplegia (CPEO): Clinical, morphologic, and biochemical studiesQ67280198
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndromeQ70472763
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutationQ71309698
Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP SyndromeQ71853689
Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutationQ72607130
Mitochondrial cytopathiesQ73129263
Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNAQ73496262
Aberrations and retinal image quality of the normal human eyeQ73900801
Supernormal vision and high-resolution retinal imaging through adaptive opticsQ73900804
Modelling the mosaic organization of rod and cone photoreceptors with a minimal-spacing ruleQ74673084
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approachQ79897576
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutationQ80949383
The retinal manifestations of mitochondrial myopathy. A study of 22 casesQ93657316
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectmitochondrial DNAQ27075
adaptive opticsQ506922
P304page(s)1838-1847
P577publication date2008-11-07
P1433published inInvestigative Ophthalmology Visual ScienceQ6060707
P1476titleAdaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation
P478volume50

Reverse relations

cites work (P2860)
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Q33736685Adaptive optics scanning laser ophthalmoscope with integrated wide-field retinal imaging and tracking
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Q42040723Automatic cone photoreceptor segmentation using graph theory and dynamic programming
Q33464299Compact adaptive optics line scanning ophthalmoscope
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