Detalhe da pesquisa
1.
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Clin Genet
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38468396
2.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 106(6): 859-871, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470375
3.
The MHC class II transactivator modulates seeded alpha-synuclein pathology and dopaminergic neurodegeneration in an in vivo rat model of Parkinson's disease.
Brain Behav Immun
; 91: 369-382, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33223048
4.
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
Nat Commun
; 15(1): 1600, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383453
5.
Nigral transcriptomic profiles in Engrailed-1 hemizygous mouse models of Parkinson's disease reveal upregulation of oxidative phosphorylation-related genes associated with delayed dopaminergic neurodegeneration.
Front Aging Neurosci
; 16: 1337365, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374883
6.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Genome Med
; 16(1): 7, 2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184646
7.
Loss of ctnnd2b affects neuronal differentiation and behavior in zebrafish.
Front Neurosci
; 17: 1205653, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37465584
8.
Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
Nat Commun
; 15(1): 3935, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38729949