Detalhe da pesquisa
1.
Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.
Mol Vis
; 29: 329-337, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38264610
2.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Hum Mol Genet
; 28(5): 778-795, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388224
3.
An update on the genetics of ocular coloboma.
Hum Genet
; 138(8-9): 865-880, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31073883
4.
Prospects and modalities for the treatment of genetic ocular anomalies.
Hum Genet
; 138(8-9): 1019-1026, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30603775
5.
NLRP3 inflammasome activation drives bystander cone photoreceptor cell death in a P23H rhodopsin model of retinal degeneration.
Hum Mol Genet
; 25(8): 1501-16, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008885
6.
Anolis carolinensis as a model to understand the molecular and cellular basis of foveal development.
Exp Eye Res
; 173: 138-147, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29775563
7.
A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 60-67, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27771509
8.
Necroptosis in amyotrophic lateral sclerosis and other neurological disorders.
Biochim Biophys Acta Mol Basis Dis
; 1863(2): 347-353, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27902929
9.
An ex vivo gene therapy approach in X-linked retinoschisis.
Mol Vis
; 22: 718-33, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27390514
10.
Nonsense suppression therapies in ocular genetic diseases.
Cell Mol Life Sci
; 72(10): 1931-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25651836
11.
Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.
Hum Mol Genet
; 21(10): 2357-69, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22357656
12.
Influence of Iron Oxide Nanoparticles on Innate and Genetically Modified Secretion Profiles of Mesenchymal Stem Cells.
IEEE Trans Magn
; 49(1): 389-393, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24976643
13.
Levamisole derivatives as immune modulators for the treatment of amyotrophic lateral sclerosis (ALS).
Future Med Chem
; 15(8): 651-659, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170865
14.
Molecular genetic diagnostics for inherited retinal dystrophies in the clinical setting.
Can J Ophthalmol
; 2023 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37678418
15.
Pharmacological enhancement of ex vivo gene therapy neuroprotection in a rodent model of retinal degeneration.
Ophthalmic Res
; 47(1): 32-8, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-21691141
16.
Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma.
Mol Vis
; 17: 1473-84, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21677791
17.
Photoreceptor precursor cell integration into rodent retina after treatment with novel glycopeptide PKX-001.
J Tissue Eng Regen Med
; 15(6): 556-566, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33779072
18.
Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease.
Hum Mol Genet
; 17(24): 3987-4000, 2008 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18809619
19.
Investigating microglia during motor neuron degeneration using a zebrafish model.
Micron
; 133: 102852, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203887
20.
RNA-based therapies in animal models of Leber congenital amaurosis causing blindness.
Precis Clin Med
; 3(2): 113-126, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35692607