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P50 | author | Anna M Gruener | Q90324353 |
P2093 | author name string | Ana M S Morley | |
P2860 | cites work | Optical coherence tomography: a window into the mechanisms of multiple sclerosis | Q24655514 |
Real-Time Automatic Segmentation of Optical Coherence Tomography Volume Data of the Macular Region | Q27301907 | ||
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy | Q28272049 | ||
Optical coherence tomography | Q29617481 | ||
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration | Q30445003 | ||
Removal of oxygen free-radical-induced 5',8-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells | Q30856746 | ||
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome | Q31138303 | ||
Neurological symptoms and natural course of xeroderma pigmentosum | Q33345341 | ||
Identification and quantification of 8,5'-cyclo-2'-deoxy-adenosine in DNA by liquid chromatography/ mass spectrometry | Q33423020 | ||
Effect of pupil dilation on retinal nerve fibre layer thickness measurements and their repeatability with Cirrus HD-OCT. | Q33583112 | ||
Clinical utility gene card for: Xeroderma pigmentosum | Q33765183 | ||
Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature | Q33935815 | ||
Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1 | Q33988188 | ||
In vivo retinal imaging by optical coherence tomography | Q34019769 | ||
Defective Repair Replication of DNA in Xeroderma Pigmentosum | Q34054000 | ||
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases | Q34183159 | ||
Neuroimaging features of xeroderma pigmentosum group A. | Q34264999 | ||
Spotlight on 'xeroderma pigmentosum'. | Q34468641 | ||
The oxidative DNA lesion 8,5'-(S)-cyclo-2'-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells | Q73763148 | ||
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions | Q87152007 | ||
Retinal nerve fiber layer is associated with brain atrophy in multiple sclerosis | Q34583794 | ||
Optical Coherence Tomography Reveals Distinct Patterns of Retinal Damage in Neuromyelitis Optica and Multiple Sclerosis | Q34785270 | ||
Retinal thinning and correlation with functional disability in patients with Parkinson's disease | Q35052814 | ||
Ocular manifestations in the inherited DNA repair disorders. | Q35057146 | ||
Forty years of research on xeroderma pigmentosum at the US National Institutes of Health. | Q35164298 | ||
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. | Q35605167 | ||
Complete release of (5'S)-8,5'-cyclo-2'-deoxyadenosine from dinucleotides, oligodeoxynucleotides and DNA, and direct comparison of its levels in cellular DNA with other oxidatively induced DNA lesions | Q35618719 | ||
Transcriptional bypass of bulky DNA lesions causes new mutant RNA transcripts in human cells | Q35752678 | ||
Ultraviolet light transmission through the human corneal stroma is reduced in the periphery | Q35843470 | ||
Retinal nerve fiber layer and macular thinning in systemic lupus erythematosus: an optical coherence tomography study comparing SLE and neuropsychiatric SLE. | Q36052684 | ||
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect | Q36658965 | ||
The case for 8,5'-cyclopurine-2'-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum | Q36690511 | ||
Ganglion cell loss in relation to visual disability in multiple sclerosis | Q36781704 | ||
The role of optical coherence tomography in multiple sclerosis: expert panel consensus | Q36900614 | ||
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage | Q36986273 | ||
State-of-the-art retinal optical coherence tomography | Q37013481 | ||
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). | Q37180228 | ||
Ultraviolet damage to the eye revisited: eye-sun protection factor (E-SPF®), a new ultraviolet protection label for eyewear. | Q37413015 | ||
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation | Q37584671 | ||
The xeroderma pigmentosum pathway: decision tree analysis of DNA quality | Q37891454 | ||
Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco | Q38977010 | ||
Imaging in multiple sclerosis | Q42087600 | ||
Retinal Nerve Fibre Layer and Macular Thinning in Spinocerebellar Ataxia and Cerebellar Multisystem Atrophy | Q42181076 | ||
Retinal nerve fiber layer structure abnormalities in early Alzheimer's disease: evidence in optical coherence tomography | Q42977904 | ||
Evaluation of retinal nerve fiber layer and ganglion cell layer thickness in Alzheimer's disease using spectral-domain optical coherence tomography | Q43557495 | ||
Distribution of retinal layer atrophy in patients with Parkinson disease and association with disease severity and duration | Q44615841 | ||
Retinal nerve fiber layer thinning in Parkinson disease | Q45040652 | ||
Analysis of the visual system in Friedreich ataxia | Q45809518 | ||
Cancer in xeroderma pigmentosum and related disorders of DNA repair | Q46465906 | ||
An investigation of the retinal nerve fibre layer in progressive multiple sclerosis using optical coherence tomography | Q46868407 | ||
Optical coherence tomography and disease subtype in multiple sclerosis | Q46881132 | ||
Correlation between retinal morphological and functional findings and clinical severity in Parkinson's disease | Q46929846 | ||
Influence of pupil size and cataract on retinal nerve fiber layer thickness measurements by Stratus OCT. | Q47328323 | ||
Ophthalmic Manifestations of Xeroderma Pigmentosum: A Perspective from the United Kingdom. | Q47574869 | ||
Electrophysiology and optical coherence tomography to evaluate Parkinson disease severity | Q48096914 | ||
Retinal nerve fiber layer structure abnormalities in schizophrenia and its relationship to disease state: evidence from optical coherence tomography. | Q54737119 | ||
In vivo optical coherence tomography. | Q55066142 | ||
RETINA MEASUREMENTS FOR DIAGNOSIS OF PARKINSON DISEASE | Q59697298 | ||
Photocoagulation for diabetic macular edema. Early Treatment Diabetic Retinopathy Study report number 1. Early Treatment Diabetic Retinopathy Study research group | Q69874090 | ||
Correlation between morphological and functional retinal impairment in multiple sclerosis patients | Q73049039 | ||
P433 | issue | 6 | |
P921 | main subject | xeroderma pigmentosum | Q612693 |
P304 | page(s) | 356-366 | |
P577 | publication date | 2018-05-22 | |
P1433 | published in | Neuro-Ophthalmology | Q7002100 |
P1476 | title | Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study | |
P478 | volume | 42 |
Q99553610 | Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia | cites work | P2860 |
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