Detalhe da pesquisa
1.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Hum Mol Genet
; 29(9): 1426-1439, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202298
2.
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Brain
; 140(10): e65, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969388
3.
Oculogyric crises secondary to lamotrigine overdosage.
Epilepsia
; 52(3): e4-6, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21395567
4.
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
Epilepsy Behav
; 20(3): 494-501, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21292558
6.
Two patients with an anti-N-methyl-D-aspartate receptor antibody syndrome-like presentation and negative results of testing for autoantibodies.
Pediatr Neurol
; 45(6): 412-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22115008