Detalhe da pesquisa
1.
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Am J Hum Genet
; 109(4): 571-586, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240055
2.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain
; 145(9): 3274-3287, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769015
3.
KNa1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons.
Neurobiol Dis
; 168: 105713, 2022 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346832
4.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
5.
Strain-specific regulation of striatal phenotype in Drd2-eGFP BAC transgenic mice.
J Neurosci
; 32(27): 9124-32, 2012 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22764222
6.
Excitatory Dysfunction Drives Network and Calcium Handling Deficits in 16p11.2 Duplication Schizophrenia Induced Pluripotent Stem Cell-Derived Neurons.
Biol Psychiatry
; 94(2): 153-163, 2023 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36581494
7.
Calcium homeostasis, selective vulnerability and Parkinson's disease.
Trends Neurosci
; 32(5): 249-56, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19307031
8.
A molecular basis for the increased vulnerability of substantia nigra dopamine neurons in aging and Parkinson's disease.
Mov Disord
; 25 Suppl 1: S63-70, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20187241
9.
Hypoglycemia in Infants and Effect on Neurodevelopment.
Pediatr Neurol Briefs
; 34: 18, 2020 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33354100
10.
A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome.
Seizure
; 75: 1-6, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31864146
11.
Dichotomous anatomical properties of adult striatal medium spiny neurons.
J Neurosci
; 28(43): 10814-24, 2008 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-18945889
12.
SCN8A: When Neurons Are So Excited, They Just Can't Hide It.
Epilepsy Curr
; 19(4): 269-271, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31288536
13.
Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.
Ann Clin Transl Neurol
; 6(9): 1606-1615, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31560846
14.
Treatment Responsiveness in KCNT1-Related Epilepsy.
Neurotherapeutics
; 16(3): 848-857, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31054119
15.
Imaging of Glutamate Concentration in Sturge-Weber Syndrome.
Pediatr Neurol Briefs
; 31(1): 2, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28070151
16.
Screening of conventional anticonvulsants in a genetic mouse model of epilepsy.
Ann Clin Transl Neurol
; 4(5): 326-339, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28491900
17.
Visual Processing in Infants with Tuberous Sclerosis Complex.
Pediatr Neurol Briefs
; 30(2): 11, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27053907
18.
Pearls & Oy-sters: When Genetic Generalized Epilepsy Becomes Progressive.
Neurology
; 96(9): 454-457, 2021 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277415
19.
Prognosis with Incidental Rolandic Spikes.
Pediatr Neurol Briefs
; 29(3): 19, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933561
20.
Corrigendum to "A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome" [Seizure: Eur. J. Epilepsy 75 (2020) 1-6].
Seizure
; 80: 281, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32414541