Detalhe da pesquisa
1.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(11): 6125-6148, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34188164
2.
Duplication 2p16 is associated with perisylvian polymicrogyria.
Am J Med Genet A
; 179(12): 2343-2356, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660690
3.
Somatic mutations in cerebral cortical malformations.
N Engl J Med
; 371(8): 733-43, 2014 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25140959
4.
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(12): 7852, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34282265
5.
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
J Med Genet
; 49(10): 636-41, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23012439
6.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
JAMA Neurol
; 80(9): 980-988, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37486637
7.
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Neurogenetics
; 13(1): 31-47, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22218741
8.
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Nat Rev Neurol
; 16(11): 618-635, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895508
9.
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.
Neuron
; 99(5): 905-913.e7, 2018 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30146301
10.
Genetic malformations of the human frontal lobe.
Epilepsia
; 51 Suppl 1: 13-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20331705
11.
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism?
Neurology
; 83(12): 1049-55, 2014 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25142901
12.
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism?
Neurology
; 84(16): 1721, 2015 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26082956
13.
Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomy.
Clin Dev Immunol
; 11(3-4): 241-52, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15559370
14.
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
Am J Med Genet A
; 127A(3): 277-87, 2004 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15150779