Detalhe da pesquisa
1.
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Epilepsia
; 64(5): 1351-1367, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779245
2.
Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review.
Front Neurosci
; 17: 1215684, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37700749
3.
Genetic causes of rare and common epilepsies: What should the epileptologist know?
Eur J Med Genet
; 65(9): 104570, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35850153
4.
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Seizure
; 101: 211-217, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36087421
5.
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.
Acta Myol
; 39(4): 320-335, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33458588