Detalhe da pesquisa
1.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
2.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet
; 106(4): 438-452, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197073
3.
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
Hum Mol Genet
; 29(5): 766-784, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919497
4.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
5.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775
6.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
7.
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Ann Neurol
; 88(5): 1028-1033, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743835
8.
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS Genet
; 14(5): e1007281, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29738522
9.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513310
10.
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Hum Mol Genet
; 27(2): 224-238, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29077851
11.
A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.
Hum Mol Genet
; 27(12): 2138-2153, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659809
12.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Hum Mol Genet
; 27(4): 589-600, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29267967
13.
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Am J Hum Genet
; 101(3): 428-440, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28823707
14.
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Mov Disord
; 35(5): 880-885, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922365
15.
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Am J Med Genet A
; 182(5): 1236-1242, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052936
16.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia
; 61(11): 2461-2473, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954514
17.
Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy.
Epilepsy Behav
; 105: 106944, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097883
18.
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Proc Natl Acad Sci U S A
; 114(44): E9308-E9317, 2017 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29078390
19.
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Hum Mutat
; 40(11): 2021-2032, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31184401
20.
Correction to: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(7): 1671, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158694