Detalhe da pesquisa
1.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426
2.
Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.
Pharmacogenomics J
; 22(4): 223-229, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35436997
3.
Pediatric Acute Stroke Protocols in the United States and Canada.
J Pediatr
; 242: 220-227.e7, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34774972
4.
Epilepsy surgery near or in eloquent cortex in children-Practice patterns and recommendations for minimizing and reporting deficits.
Epilepsia
; 59(8): 1484-1491, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30033517
5.
Pediatric epilepsy surgery.
Curr Neurol Neurosci Rep
; 15(6): 31, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893723
6.
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Front Pediatr
; 12: 1349519, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38440187
7.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Eur J Hum Genet
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565639
8.
Glial Fibrillary Acidic Protein (GFAP) Astrocytopathy: An Emerging Cause of Meningoencephalomyelitis in Children and Adolescents.
J Child Neurol
; 38(13-14): 659-664, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981797
9.
Pediatric Critical Care Neurologists in the United States and Canada: A Survey of Clinical Practice Experience.
J Child Neurol
; 37(4): 288-297, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037772
10.
A Survey of Neuromonitoring Practices in North American Pediatric Intensive Care Units.
Pediatr Neurol
; 126: 125-130, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34864306
11.
Mouse schwann cells need both NRG1 and cyclic AMP to myelinate.
Glia
; 59(5): 720-33, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21322058
12.
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Mol Syndromol
; 11(5-6): 320-329, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33510604
13.
Course and Outcome of Children with Convulsive Status Epilepticus Admitted to a Pediatric Intensive Care Unit.
Cureus
; 11(4): e4471, 2019 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31249749
14.
Near-infrared spectroscopy to define cognitive frontal lobe functions.
J Clin Neurophysiol
; 22(6): 415-7, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16462198