Detalhe da pesquisa
1.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 345-360, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045343
2.
Krüppel-like factors: potential roles in blood-brain barrier dysfunction and epileptogenesis.
Acta Pharmacol Sin
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38684799
3.
Predicting factors of neurodevelopmental performance in children with phenylketonuria.
Am J Med Genet A
; 191(6): 1525-1529, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36872876
4.
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Pediatr Res
; 2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38052860
5.
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.
Neurol Sci
; 44(9): 3303-3305, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37213040
6.
Licochalcone A: A Potential Multitarget Drug for Alzheimer's Disease Treatment.
Int J Mol Sci
; 24(18)2023 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762479
7.
Deciphering specific miRNAs in brain tumors: a 5-miRNA signature in glioblastoma.
Mol Genet Genomics
; 297(2): 507-521, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35175428
8.
A new tool to screen patients with severe obstructive sleep apnea in the primary care setting: a prospective multicenter study.
BMC Pulm Med
; 22(1): 38, 2022 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35033055
9.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
J Pediatr
; 231: 148-156, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340551
10.
Silymarin as a flavonoid-type P-glycoprotein inhibitor with impact on the pharmacokinetics of carbamazepine, oxcarbazepine and phenytoin in rats.
Drug Chem Toxicol
; 44(5): 458-469, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31020859
11.
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).
Int J Mol Sci
; 23(1)2021 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008485
12.
Repairing blood-CNS barriers: Future therapeutic approaches for neuropsychiatric disorders.
Pharmacol Res
; 162: 105226, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33007420
13.
Cystic fibrosis: Physiopathology and the latest pharmacological treatments.
Pharmacol Res
; 162: 105267, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33127556
14.
Impact of direct oral anticoagulant off-label doses on clinical outcomes of atrial fibrillation patients: A systematic review.
Br J Clin Pharmacol
; 86(3): 533-547, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31631392
15.
Pre-Clinical Assessment of the Nose-to-Brain Delivery of Zonisamide After Intranasal Administration.
Pharm Res
; 37(4): 74, 2020 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32215749
16.
Salting-out assisted liquid-liquid extraction method optimized by design of experiments for the simultaneous high-performance liquid chromatography analysis of perampanel and stiripentol in mouse matrices.
J Sep Sci
; 43(23): 4289-4304, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32997431
17.
ABC transporters in drug-resistant epilepsy: mechanisms of upregulation and therapeutic approaches.
Pharmacol Res
; 144: 357-376, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051235
18.
First-time oral administration of resveratrol-loaded layer-by-layer nanoparticles to rats - a pharmacokinetics study.
Analyst
; 144(6): 2062-2079, 2019 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30724915
19.
Development and full validation of an HPLC methodology to quantify atorvastatin and curcumin after their intranasal co-delivery to mice.
Biomed Chromatogr
; 33(10): e4621, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31215044
20.
The contribution of 7q33 copy number variations for intellectual disability.
Neurogenetics
; 19(1): 27-40, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29260337