Detalhe da pesquisa
1.
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex.
Acta Neuropathol
; 147(1): 80, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38714540
2.
Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes.
Epilepsy Behav
; 154: 109726, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513571
3.
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex.
Cell Mol Neurobiol
; 42(8): 2863-2892, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34709498
4.
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study.
Dev Med Child Neurol
; 64(4): 495-501, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34601720
5.
Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.
J Pediatr
; 233: 156-162.e2, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33640330
6.
Balloon cells promote immune system activation in focal cortical dysplasia type 2b.
Neuropathol Appl Neurobiol
; 47(6): 826-839, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003514
7.
MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis.
Neuropathol Appl Neurobiol
; 47(6): 796-811, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942341
8.
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
Epilepsia
; 62(7): 1518-1527, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34002374
9.
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.
Epilepsia
; 62(5): 1208-1219, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33778971
10.
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas.
Brain
; 143(1): 131-149, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834371
11.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat
; 41(7): 1263-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196822
12.
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Genet Med
; 22(9): 1489-1497, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461669
13.
The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(2): 398-408, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093711
14.
Correction: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(8): 1896, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30262923
15.
Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex.
Cereb Cortex
; 28(10): 3665-3672, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29939236
16.
miR147b: A novel key regulator of interleukin 1 beta-mediated inflammation in human astrocytes.
Glia
; 66(5): 1082-1097, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29384235
17.
The relation between cortisol and functional connectivity in people with and without stress-sensitive epilepsy.
Epilepsia
; 59(1): 179-189, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29124726
18.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet
; 54(7): 460-470, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377535
19.
Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.
Epilepsia
; 58(4): 522-530, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28276060
20.
Instruction manual for the ILAE 2017 operational classification of seizure types.
Epilepsia
; 58(4): 531-542, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28276064