Detalhe da pesquisa
1.
A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
Epilepsia
; 64(12): e222-e228, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746765
2.
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Int J Mol Sci
; 24(20)2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894777
3.
Effect of the ketogenic diet in excitable tissues.
Am J Physiol Cell Physiol
; 320(4): C547-C553, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502948
4.
Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths.
Int J Mol Sci
; 22(9)2021 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33946750
5.
Cardiac and neuronal HCN channelopathies.
Pflugers Arch
; 472(7): 931-951, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424620
6.
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Pharmacol Res
; 160: 105200, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32942014
7.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
8.
Acetylation mediates Cx43 reduction caused by electrical stimulation.
J Mol Cell Cardiol
; 87: 54-64, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264759
9.
Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.
Front Pharmacol
; 13: 872645, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35770094
10.
Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients?
Prog Biophys Mol Biol
; 166: 147-155, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34310985
11.
Innovative Therapies and Nanomedicine Applications for the Treatment of Alzheimer's Disease: A State-of-the-Art (2017-2020).
Int J Nanomedicine
; 15: 6113-6135, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32884267
12.
Rational design of a mutation to investigate the role of the brain protein TRIP8b in limiting the cAMP response of HCN channels in neurons.
J Gen Physiol
; 152(9)2020 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633755
13.
GSTM3 variant is a novel genetic modifier in Brugada syndrome, a disease with risk of sudden cardiac death.
EBioMedicine
; 57: 102843, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645615
14.
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
Epilepsy Res
; 153: 49-58, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30986657
15.
Modulation of the intrinsic neuronal excitability by multifunctional liposomes tailored for the treatment of Alzheimer's disease.
Int J Nanomedicine
; 13: 4059-4071, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30034232
16.
A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.
Front Cell Neurosci
; 12: 76, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29615871
17.
SCN4A as modifier gene in patients with myotonic dystrophy type 2.
Sci Rep
; 8(1): 11058, 2018 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30038349
18.
JMV5656, A Novel Derivative of TLQP-21, Triggers the Activation of a Calcium-Dependent Potassium Outward Current in Microglial Cells.
Front Cell Neurosci
; 11: 41, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280458
19.
Pharmacological and Biochemical Characterization of TLQP-21 Activation of a Binding Site on CHO Cells.
Front Pharmacol
; 8: 167, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28424618