scholarly article | Q13442814 |
P356 | DOI | 10.1167/IOVS.08-2029 |
P8608 | Fatcat ID | release_ruutnvfwzbfihbroudjna6ioia |
P932 | PMC publication ID | 4836613 |
P698 | PubMed publication ID | 18997096 |
P2093 | author name string | Austin Roorda | |
Qing Zhang | |||
Michael K Yoon | |||
Yuhua Zhang | |||
Jacque L Duncan | |||
Ari Green | |||
Chiaki Nakanishi | |||
Lee-Jun C Wong | |||
Leslie Gillum | |||
P2860 | cites work | Cone and rod dysfunction in the NARP syndrome | Q28139048 |
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation | Q28238569 | ||
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases | Q28269333 | ||
Three-dimensional analysis of mouse rod and cone mitochondrial cristae architecture: bioenergetic and functional implications. | Q31134864 | ||
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high | Q33208167 | ||
High-resolution retinal imaging of cone-rod dystrophy | Q33241647 | ||
High-resolution in vivo imaging of the RPE mosaic in eyes with retinal disease | Q33282840 | ||
High-resolution imaging with adaptive optics in patients with inherited retinal degeneration | Q33288807 | ||
The arrangement of the three cone classes in the living human eye. | Q33852770 | ||
Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness | Q34321474 | ||
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993 | Q34390017 | ||
Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants | Q34410761 | ||
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy | Q34627393 | ||
Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency | Q36152943 | ||
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families | Q36316862 | ||
In vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual function | Q36973449 | ||
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 studies | Q40507676 | ||
Functional consequences of the relative numbers of L and M cones | Q41723779 | ||
Packing arrangement of the three cone classes in primate retina | Q43588716 | ||
Color perception is mediated by a plastic neural mechanism that is adjustable in adults | Q44113672 | ||
Photoreceptor inner segments in monkey and human retina: mitochondrial density, optics, and regional variation | Q44268744 | ||
Optical fiber properties of individual human cones | Q44392243 | ||
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 images | Q46533352 | ||
The structure-function correlates of mammalian rod and cone photoreceptor mitochondria: observations and unanswered questions | Q46895187 | ||
Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study | Q48117343 | ||
Phenotypic variability in a family with a mitochondrial DNA T8993C mutation | Q48341841 | ||
Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load | Q48612981 | ||
Leigh syndrome: clinical features and biochemical and DNA abnormalities. | Q49107059 | ||
High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes | Q49197990 | ||
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 studies | Q67280198 | ||
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome | Q70472763 | ||
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation | Q71309698 | ||
Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome | Q71853689 | ||
Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation | Q72607130 | ||
Mitochondrial cytopathies | Q73129263 | ||
Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA | Q73496262 | ||
Aberrations and retinal image quality of the normal human eye | Q73900801 | ||
Supernormal vision and high-resolution retinal imaging through adaptive optics | Q73900804 | ||
Modelling the mosaic organization of rod and cone photoreceptors with a minimal-spacing rule | Q74673084 | ||
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach | Q79897576 | ||
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation | Q80949383 | ||
The retinal manifestations of mitochondrial myopathy. A study of 22 cases | Q93657316 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | mitochondrial DNA | Q27075 |
adaptive optics | Q506922 | ||
P304 | page(s) | 1838-1847 | |
P577 | publication date | 2008-11-07 | |
P1433 | published in | Investigative Ophthalmology Visual Science | Q6060707 |
P1476 | title | Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation | |
P478 | volume | 50 |
Q34081255 | Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. |
Q33740576 | Adaptive Optics Retinal Imaging: Emerging Clinical Applications |
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Q33649997 | Adaptive optics retinal imaging--clinical opportunities and challenges |
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Q41626992 | Automated Photoreceptor Cell Identification on Nonconfocal Adaptive Optics Images Using Multiscale Circular Voting. |
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Q33720822 | Heterogeneous patterns of tissue injury in NARP syndrome |
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Q46438314 | High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration |
Q31110626 | High-resolution images of retinal structure in patients with choroideremia |
Q28731376 | High-resolution imaging of the retinal nerve fiber layer in normal eyes using adaptive optics scanning laser ophthalmoscopy |
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Q34744595 | Objective assessment of foveal cone loss ratio in surgically closed macular holes using adaptive optics scanning laser ophthalmoscopy |
Q33990304 | Observation of cone and rod photoreceptors in normal subjects and patients using a new generation adaptive optics scanning laser ophthalmoscope. |
Q31041992 | Outer retinal structure in patients with acute zonal occult outer retinopathy |
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