Detalhe da pesquisa
1.
White epidermal nevus as an early sign of tuberous sclerosis complex-A case series.
Pediatr Dermatol
; 40(4): 633-636, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37029338
2.
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.
Epilepsia
; 63(7): 1748-1760, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441706
3.
Rapid titration of VNS therapy reduces time-to-response in epilepsy.
Epilepsy Behav
; 134: 108861, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35963047
4.
Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging.
Neuroradiology
; 64(3): 611-620, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34532765
5.
Mammalian target of rapamycin inhibitors for the treatment of astrocytic hamartoma in tuberous sclerosis complex (TSC).
Graefes Arch Clin Exp Ophthalmol
; 260(9): 3061-3068, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35230473
6.
An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies.
Childs Nerv Syst
; 37(12): 3827-3833, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491422
7.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Am J Hum Genet
; 101(4): 516-524, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942967
8.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
9.
Treatment with brivaracetam in children - The experience of a pediatric epilepsy center.
Epilepsy Behav
; 101(Pt A): 106541, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31698260
10.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050392
11.
Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation.
Childs Nerv Syst
; 33(4): 601-607, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074282
12.
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Genet Med
; 17(10): 774-81, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25590979
13.
Electroencephalography for children with autistic spectrum disorder: a sedation protocol.
Paediatr Anaesth
; 25(2): 200-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25145661
14.
Real-Life Experience With Purified Cannabidiol Treatment for Refractory Epilepsy: A Multicenter Retrospective Study.
Pediatr Neurol
; 150: 91-96, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995414
15.
Neurite density of white matter significantly correlates with tuberous sclerosis complex disease severity.
Neuroimage Clin
; 35: 103085, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35780663
16.
The Long-Term Effectiveness and Safety of Cannabidiol-Enriched Oil in Children With Drug-Resistant Epilepsy.
Pediatr Neurol
; 136: 15-19, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36049378
17.
VNS parameters for clinical response in Epilepsy.
Brain Stimul
; 15(3): 814-821, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35643390
18.
Felbamate for pediatric epilepsy-should we keep on using it as the last resort?
Front Neurol
; 13: 979725, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203978
19.
Short treatment of peripheral blood cells product with Fas ligand using closed automated cell processing system significantly reduces immune cell reactivity of the graft in vitro and in vivo.
Bone Marrow Transplant
; 57(8): 1250-1259, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35538142
20.
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Front Genet
; 13: 1018062, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36699461