Detalhe da pesquisa
1.
Activity-dependent cleavage of dyskinesia-related proline-rich transmembrane protein 2 (PRRT2) by calpain in mouse primary cortical neurons.
FASEB J
; 34(1): 180-191, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914621
2.
Genetic and epigenetic analyses of panic disorder in the post-GWAS era.
J Neural Transm (Vienna)
; 127(11): 1517-1526, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32388794
3.
Genetic and environmental factors of schizophrenia and autism spectrum disorder: insights from twin studies.
J Neural Transm (Vienna)
; 127(11): 1501-1515, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32285255
4.
Psychogenic seizures in a child with infantile convulsions and choreoathetosis.
Pediatr Int
; 64(1): e14681, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490964
5.
Haploinsufficiency of NSD1 causes Sotos syndrome.
Nat Genet
; 30(4): 365-6, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11896389
6.
Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits.
J Biochem
; 174(6): 561-570, 2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37793168
7.
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
J Hum Genet
; 57(3): 207-11, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22301465
8.
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
J Hum Genet
; 57(5): 338-41, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22399141
9.
A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models.
Transl Psychiatry
; 11(1): 132, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602898
10.
Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia.
Twin Res Hum Genet
; 13(5): 455-60, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20874467
11.
Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.
Neurology
; 92(20): e2364-e2374, 2019 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004071
12.
Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.
Transl Psychiatry
; 8(1): 41, 2018 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29391400
13.
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease.
Hum Genome Var
; 4: 17032, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28765789
14.
De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.
Sci Rep
; 7(1): 2887, 2017 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28588275
15.
Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families.
Mov Disord
; 26(4): 761-3, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21312274
16.
Neuroradiologic findings in Sotos syndrome.
J Child Neurol
; 21(7): 614-8, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16970856
17.
Case of undiagnosed catecholaminergic polymorphic ventricular tachycardia presenting with ventricular fibrillation after administration of succinylcholine during anesthesia for modified electroconvulsive therapy.
Psychiatry Clin Neurosci
; 65(4): 397, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21682817
18.
Three cases of schizophrenia showing improvement after switching to blonanserin.
Psychiatry Clin Neurosci
; 65(4): 396-7, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21682816
19.
Could subclinical hypothyroidism cause periodic catatonia with delusional misidentification syndrome?
Psychiatry Clin Neurosci
; 64(3): 338, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602737
20.
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Hum Mutat
; 22(5): 378-87, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14517949