Detalhe da pesquisa
1.
α-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: connecting STXBP1 encephalopathy with α-synucleinopathies.
Hum Mol Genet
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38692286
2.
Knockdown of Chronophage in the nervous system mimics features of neurodevelopmental disorders caused by BCL11A/B variants.
Exp Cell Res
; 433(2): 113827, 2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37926342
3.
Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.
Hum Mol Genet
; 30(14): 1337-1348, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961044
4.
Novel genetic link between the ATP-binding cassette subfamily A gene and hippo gene in Drosophila.
Exp Cell Res
; 386(2): 111733, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31751555
5.
Application of induced pluripotent stem cells in epilepsy.
Mol Cell Neurosci
; 108: 103535, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758699
6.
Low-grade IVH in preterm infants causes cerebellar damage, motor, and cognitive impairment.
Pediatr Int
; 63(11): 1327-1333, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33706425
7.
Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster.
Int J Mol Sci
; 21(17)2020 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32899411
8.
A 5-Year Follow-Up of Triple-Seronegative Myasthenia Gravis Successfully Treated with Tacrolimus Therapy.
Neuropediatrics
; 49(3): 200-203, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29301152
9.
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.
J Hum Genet
; 61(6): 565-9, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841829
10.
Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.
Epilepsia
; 57(4): e81-6, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26918652
11.
Low-grade intraventricular hemorrhage disrupts cerebellar white matter in preterm infants: evidence from diffusion tensor imaging.
Neuroradiology
; 57(5): 507-14, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25596864
12.
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
J Med Genet
; 51(3): 203-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367057
13.
Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient.
Hum Genome Var
; 11(1): 9, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409073
14.
Effects of chemotherapy on the brain in childhood: diffusion tensor imaging of subtle white matter damage.
Neuroradiology
; 55(10): 1251-7, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23893073
15.
Myosin Va, a Novel Interaction Partner of STXBP1, Is Required to Transport Syntaxin1A to the Plasma Membrane.
Neuroscience
; 524: 256-268, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37315734
16.
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.
Hum Genome Var
; 10(1): 23, 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37604814
17.
TUBB3 E410K Syndrome With Childhood-Onset Nonalcoholic Steatohepatitis.
J Clin Endocrinol Metab
; 107(1): e38-e43, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435630
18.
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.
Hum Genome Var
; 9(1): 18, 2022 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35665751
19.
Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant.
Hum Genome Var
; 9(1): 8, 2022 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260566
20.
Quantitative pretreatment EEG predicts efficacy of ACTH therapy in infantile epileptic spasms syndrome.
Clin Neurophysiol
; 144: 83-90, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36327598