Detalhe da pesquisa
1.
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
J Med Genet
; 52(8): 532-40, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25787132
2.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A
; 167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604658
3.
Dravet syndrome and parkinsonism: A case report investigating the dopaminergic system.
Neurology
; 93(13): 595-596, 2019 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444242
4.
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Nat Genet
; 46(5): 503-509, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24686847
5.
The expanding spectrum of congenital disorders of glycosylation.
J Pediatr
; 147(6): 728-30, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16356420