Detalhe da pesquisa
1.
Gene therapy for Lafora disease in the Epm2a-/- mouse model.
Mol Ther
; 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38796707
2.
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice.
Neurobiol Dis
; 181: 106119, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37059210
3.
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
4.
Number needed to treat and associated cost analysis of cenobamate versus third-generation anti-seizure medications for the treatment of focal-onset seizures in patients with drug-resistant epilepsy in Spain.
Epilepsy Behav
; 139: 109054, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36603345
5.
Initial monotherapy with eslicarbazepine acetate for the management of adult patients with focal epilepsy in clinical practice: a meta-analysis of observational studies.
Int J Neurosci
; 133(4): 430-440, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33993841
6.
Onset of efficacy and adverse events during Cenobamate titration period.
Acta Neurol Scand
; 146(3): 265-275, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35711112
7.
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
N Engl J Med
; 378(11): 1018-1028, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29539279
8.
Practical guidance for the management of adults receiving adjunctive cenobamate for the treatment of focal epilepsy-expert opinion.
Epilepsy Behav
; 123: 108270, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34509033
9.
Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities.
Expert Rev Mol Med
; 22: e4, 2020 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938505
10.
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.
Epilepsy Behav
; 103(Pt A): 106839, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31932179
11.
Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Int J Mol Sci
; 21(20)2020 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33092303
12.
Lafora disease offers a unique window into neuronal glycogen metabolism.
J Biol Chem
; 293(19): 7117-7125, 2018 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29483193
13.
Clinical outcomes of eslicarbazepine acetate monotherapy for focal-onset seizures: A multicenter audit.
Acta Neurol Scand
; 140(6): 422-428, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498422
14.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050392
15.
Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models.
Int J Mol Sci
; 19(4)2018 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29621183
16.
Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease.
Epilepsia
; 58(3): 467-475, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28098937
17.
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
Hum Mol Genet
; 21(7): 1521-33, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22186026
18.
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Epilepsia
; 55(12): e129-33, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25270369
19.
Spanish consensus on the management of concomitant antiseizure medications when using cenobamate in adults with drug-resistant focal seizures.
Epilepsia Open
; 9(3): 1051-1058, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573131
20.
Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice.
Epilepsy Res
; 200: 107317, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38341935