Detalhe da pesquisa
1.
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
Brain
; 145(10): 3374-3382, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35714222
2.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
3.
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.
J Med Genet
; 57(2): 138-144, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31439720
4.
Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
Brain
; 146(8): e59-e60, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36825462
5.
Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy.
Liver Int
; 38(2): 358-364, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28792652
6.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Brain
; 140(10): 2597-2609, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969387
7.
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.
Hum Mutat
; 38(8): 932-941, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28585349
8.
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Hum Mol Genet
; 24(4): 1106-18, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25305082
9.
Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
Hum Mol Genet
; 23(6): 1516-26, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24179174
10.
Variants in CUL4B are associated with cerebral malformations.
Hum Mutat
; 36(1): 106-17, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25385192
11.
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Brain
; 137(Pt 6): 1676-700, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24860126
12.
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Brain
; 142(5): e15, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31032849
13.
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Brain
; 136(Pt 1): 223-44, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23365099
14.
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
J Clin Invest
; 134(2)2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943610
15.
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Neurogenetics
; 14(3-4): 215-24, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24072599
16.
Mosaic DCX deletion causes subcortical band heterotopia in males.
Neurogenetics
; 13(4): 367-73, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22833188
17.
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Hum Mol Genet
; 19(22): 4462-73, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20829227
18.
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
PLoS Genet
; 5(2): e1000381, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19214208
19.
Experience and Appreciation of Health Care Teams Regarding a New Model of Pharmaceutical Care in Long-Term Care Settings.
Can J Aging
; 41(3): 421-430, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256028
20.
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
Nat Commun
; 13(1): 2746, 2022 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585091