Tatyana Appelbaum
Overview
Explore the profile of Tatyana Appelbaum including associated specialties, affiliations and a list of published articles.
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7
Citations
137
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Recent Articles
1.
Appelbaum T, Santana E, Smith D, Beltran W, Aguirre G
Invest Ophthalmol Vis Sci
. 2024 Oct;
65(12):18.
PMID: 39392441
Purpose: The long-term evaluation of RPE65 gene augmentation initiated in middle-aged RPE65 mutant dogs previously uncovered notable inter-animal and intra-retinal variations in treatment efficacy. The study aims to gain deeper...
2.
Appelbaum T, Aguirre G, Beltran W
RNA Biol
. 2023 Jan;
20(1):31-47.
PMID: 36593651
Mutations in the retina-specific isoform of the gene encoding retinitis pigmentosa GTPase regulator (RPGR) cause X-linked retinitis pigmentosa, a severe and early onset inherited retinal degeneration. The underlying pathogenic mechanisms...
3.
Appelbaum T, Murgiano L, Becker D, Santana E, Aguirre G
Invest Ophthalmol Vis Sci
. 2020 Dec;
61(14):20.
PMID: 33326016
Purpose: To define genetic variants associated with variable severity of X-linked progressive retinal atrophy 1 (XLPRA1) caused by a five-nucleotide deletion in canine RPGR exon ORF15. Methods: A genome-wide association...
4.
Appelbaum T, Santana E, Aguirre G
Invest Ophthalmol Vis Sci
. 2020 Mar;
61(3):11.
PMID: 32176262
Purpose: To define remodeling of photoreceptor synaptic terminals and second-order retinal neurons in canine X-linked progressive retinal atrophy 1 caused by a five-nucleotide deletion in the RPGR exon ORF15. Methods:...
5.
Cideciyan A, Sudharsan R, Dufour V, Massengill M, Iwabe S, Swider M, et al.
Proc Natl Acad Sci U S A
. 2018 Aug;
115(36):E8547-E8556.
PMID: 30127005
Inherited retinal degenerations are caused by mutations in >250 genes that affect photoreceptor cells or the retinal pigment epithelium and result in vision loss. For autosomal recessive and X-linked retinal...
6.
Appelbaum T, Santana E, Aguirre G
PLoS One
. 2017 May;
12(5):e0177224.
PMID: 28486508
We have analyzed the complex pattern of the inflammatory response in early-onset canine models of human retinitis pigmentosa, rcd1, xlpra2 and erd, as well as late-onset xlpra1, in comparative manner....
7.
Appelbaum T, Becker D, Santana E, Aguirre G
Mol Vis
. 2016 Apr;
22:319-31.
PMID: 27122963
Purpose: Canine X-linked progressive retinal atrophy 1 (XLPRA1) caused by a mutation in retinitis pigmentosa (RP) GTPase regulator (RPGR) exon ORF15 showed significant variability in disease onset in a colony...