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1.
Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium.
J Cell Mol Med;
25(21): 10020-10027, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34617687
2.
Metallothionein-I/II expression associates with the astrocyte DNA damage response and not Alzheimer-type pathology in the aging brain.
Glia;
66(11): 2316-2323, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30098078
3.
Proteomic and cellular localisation studies suggest non-tight junction cytoplasmic and nuclear roles for occludin in astrocytes.
Eur J Neurosci;
47(12): 1444-1456, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29738614
4.
Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant.
Stem Cell Res;
78: 103461, 2024 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38852423
5.
Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids.
Mol Genet Genomic Med;
9(3): e1601, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33497524
6.
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Ophthalmic Genet;
42(3): 266-275, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33624564
7.
Determinants of Disease Penetrance in PRPF31-Associated Retinopathy.
Genes (Basel);
12(10)2021 09 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34680937
8.
Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4.
Stem Cell Res;
48: 101947, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32810830
9.
Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants.
Mol Genet Genomic Med;
8(11): e1489, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32931148
10.
Loss of IGF1R in Human Astrocytes Alters Complex I Activity and Support for Neurons.
Neuroscience;
390: 46-59, 2018 10 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30056117
11.
Development and Characterization of In Vitro Human Oral Mucosal Equivalents Derived from Immortalized Oral Keratinocytes.
Tissue Eng Part C Methods;
22(12): 1108-1117, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27846777
12.
An Orally Bioavailable, Indole-3-glyoxylamide Based Series of Tubulin Polymerization Inhibitors Showing Tumor Growth Inhibition in a Mouse Xenograft Model of Head and Neck Cancer.
J Med Chem;
58(23): 9309-33, 2015 Dec 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26580420
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