Detalhe da pesquisa
1.
CRISPR/Cas9-based double-strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type-Ia.
J Inherit Metab Dis
; 46(6): 1147-1158, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467014
2.
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A.
Int J Mol Sci
; 23(7)2022 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35408898
3.
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
Hum Mol Genet
; 26(6): 1157-1172, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28137943
4.
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.
Int J Mol Sci
; 20(24)2019 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31842393
5.
Dysfunction of the ubiquitin ligase Ube3a may be associated with synaptic pathophysiology in a mouse model of Huntington disease.
J Biol Chem
; 287(35): 29949-57, 2012 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22787151
6.
Statistical Analyses for Key Risk Factor Identification and Prediction of Chronic Kidney Disease.
Annu Int Conf IEEE Eng Med Biol Soc
; 2023: 1-4, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38082898
7.
ALERT: Atlas-Based Low Estimation Rank Tensor Approach to Detect Autism Spectrum Disorder.
Annu Int Conf IEEE Eng Med Biol Soc
; 2023: 1-4, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38083014
8.
Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids.
Stem Cell Reports
; 16(2): 252-263, 2021 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513359