Altered cellular immunity and suppressor cell activity in patients with primary retinitis pigmentosa. [PDF]
C. D. Heredia+4 more
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Genetic migraine disorders and the response to calcitonin gene‐related peptide antagonist treatment
Abstract Calcitonin gene‐related peptide (CGRP) is a potent cerebral vasodilator and part of the trigeminal migraine cascade. Newer migraine therapies target CGRP signaling for both acute and preventative management of headache. In this series, we present two cases of genetic conditions, of which migraine is a key feature, responsive to CGRP antagonist
Andrea M. Kuczynski, William S. Kingston
wiley +1 more source
Retinitis pigmentosa. A mimic of neurologic disease [PDF]
David G. Heidemann, Roy W. Beck
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The NR2E3R296Q mutation causes rhodopsin mislocalization, increased blue cones in the dorsal retina, and intermediate rhodopsin–arrestin co‐expressing photoreceptors. NR2E3R296Q mice develop early‐onset retinal degeneration, reduced outer nuclear layer thickness, and disorganized outer segments.
Jiacheng Jin+3 more
wiley +1 more source
Fuchs uveitis,heterochromia,and uveitis as a coincidental finding in a case
The classical clinical triad of retinitis pigmentosa is arteriolar attenuation , retinal bone-spicule pigmentation and waxy disc pallor. A 33 year old female patient is introduced here.
Gholamhossein Yaghoobi+1 more
doaj
Autosomal dominant retinitis pigmentosa: a log quotient analysis of the photopic and scotopic b-wave amplitude. [PDF]
Hiroyuki Iijima+2 more
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Genetic Eye Disease: Retinitis Pigmentosa and Other Inherited Eye Diseases [PDF]
B. Jay
openalex +1 more source
Analysis of differentially expressed genes in retinitis pigmentosa retinas Altered expression of clusterin mRNA [PDF]
Stephen E. Jones+3 more
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Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP) [PDF]
Keiko Fujiki+12 more
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Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa
Ken Ogino,1 Maho Oishi,1 Akio Oishi,1 Satoshi Morooka,1 Masako Sugahara,1 Norimoto Gotoh,1,2 Masafumi Kurimoto,3 Nagahisa Yoshimura1 1Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 2Center for Genomic ...
Ogino K+7 more
doaj