Detalhe da pesquisa
1.
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
J Med Genet
; 59(3): 262-269, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397746
2.
Ste20-like Kinase Is Critical for Inhibitory Synapse Maintenance and Its Deficiency Confers a Developmental Dendritopathy.
J Neurosci
; 41(39): 8111-8125, 2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400520
3.
Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish.
Neurobiol Dis
; 169: 105738, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460869
4.
Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice.
Neurobiol Dis
; 95: 134-44, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27425891
5.
LRP12 silencing during brain development results in cortical dyslamination and seizure sensitization.
Neurobiol Dis
; 86: 170-6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26639854
6.
Non-paraneoplastic limbic encephalitis and central nervous HHV-6B reactivation: Causality or coincidence?
Neuropathology
; 36(4): 376-80, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27431532
7.
Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability.
bioRxiv
; 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370728
8.
Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas.
Life Sci
; 155: 70-5, 2016 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142828
9.
Molecular rescue of Tsc1-ablated cortical tuber mice.
Oncotarget
; 8(4): 5678-5679, 2017 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28031543