Detalhe da pesquisa
1.
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.
Neurogenetics
; 25(2): 141-147, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498291
2.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mov Disord
; 39(3): 526-538, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214203
3.
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Mov Disord
; 38(10): 1914-1924, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37485550
4.
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
Mov Disord
; 36(6): 1381-1391, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547842
5.
The landscape of the immunoglobulin repertoire in endemic pemphigus foliaceus.
Front Immunol
; 14: 1189251, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37575223
6.
Exposure to airborne SARS-CoV-2 in four hospital wards and ICUs of Cyprus. A detailed study accounting for day-to-day operations and aerosol generating procedures.
Heliyon
; 9(3): e13669, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819229
7.
Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in THAP1-linked dystonia as an example.
Med Genet
; 34(2): 131-141, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38835919
8.
MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.
J Clin Med
; 11(16)2022 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36013096
9.
B-cell receptor physical properties affect relative IgG1 and IgE responses in mouse egg allergy.
Mucosal Immunol
; 15(6): 1375-1388, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36114245
10.
The SARS-CoV-2 main protease Mpro causes microvascular brain pathology by cleaving NEMO in brain endothelial cells.
Nat Neurosci
; 24(11): 1522-1533, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675436