Detalhe da pesquisa
1.
Endothelial Extracellular Vesicles Enriched in microRNA-34a Predict New-Onset Diabetes in Coronavirus Disease 2019 (COVID-19) Patients: Novel Insights for Long COVID Metabolic Sequelae.
J Pharmacol Exp Ther
; 389(1): 34-39, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336381
2.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Epilepsia
; 65(3): 779-791, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38088023
3.
X-Linked Epilepsies: A Narrative Review.
Int J Mol Sci
; 25(7)2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38612920
4.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clin Genet
; 104(3): 371-376, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191084
5.
Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities.
Epilepsia
; 64 Suppl 1: S9-S13, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36994678
6.
Current treatment options for familial adult myoclonus epilepsy.
Epilepsia
; 64 Suppl 1: S58-S63, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36947106
7.
Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia.
Epilepsia
; 64(6): e105-e111, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021337
8.
Perampanel as precision therapy in rare genetic epilepsies.
Epilepsia
; 64(4): 866-874, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734057
9.
Beneficial effects of L-Arginine in patients hospitalized for COVID-19: New insights from a randomized clinical trial.
Pharmacol Res
; 191: 106702, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36804278
10.
The impact of epilepsy and antiseizure medications on sleep: Findings from a large European survey in adults with epilepsy and matched controls.
Epilepsy Behav
; 148: 109481, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37862873
11.
The impact of epilepsy on quality of life: Findings from a European survey.
Epilepsy Behav
; 142: 109179, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37058861
12.
Effectiveness, safety and tolerability of perampanel by age group when used to treat people with focal and generalized epilepsy in clinical practice: The PERMIT Extension study.
Epilepsy Behav
; 147: 109369, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37619459
13.
Targeted genetic analysis unveils novel associations between ACE I/D and APO T158C polymorphisms with D-dimer levels in severe COVID-19 patients with pulmonary embolism.
J Thromb Thrombolysis
; 55(1): 51-59, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371754
14.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
15.
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.
Epilepsia
; 2022 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307934
16.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114611
17.
Neurophysiological Signatures of Motor Impairment in Patients with Rett Syndrome.
Ann Neurol
; 87(5): 763-773, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129908
18.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
J Neurol Neurosurg Psychiatry
; 92(10): 1044-1052, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903184
19.
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
Neurol Sci
; 42(5): 2063-2067, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389251
20.
Bleeding events in COVID-19: the other side of the coin?
Monaldi Arch Chest Dis
; 91(3)2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33794592