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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
2 articles
Newest firstBackground Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerative disease. PHARC syndrome is easily misdiagnosed as other neurologic disorders, such as retinitis pigmentosa, Charcot-Marie-Tooth disease, and Refsum disease, due to phenotype variability and…
Open article record in new tab ↗Purpose To investigate the clinical validity of the Guided Progression Analysis definition (GPAD) and cluster-based definition (CBD) with the Humphrey Field Analyzer (HFA) 10-2 test in retinitis pigmentosa (RP). Methods Ten non-progressive RP visual fields (VFs) (HFA 10-2 test) were simulated for each of 10 VFs of 111 eyes (10 simulations × 10 VF sequencies × 111 eyes = 111,000 VFs; Dataset 1). Using these simulat…
Open article record in new tab ↗