Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Unilateral deep brain stimulation (DBS) of nucleus ventralis intermedius thalami (Vim) for the treatment of post-traumatic tremor in children: a multicentre experience.
Childs Nerv Syst
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573550
3.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A
; 188(2): 522-533, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713950
4.
Asymmetry in sleep spindles and motor outcome in infants with unilateral brain injury.
Dev Med Child Neurol
; 64(11): 1375-1382, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445398
5.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498898
6.
Hypersensitivity to Rituximab in Children.
Pharmacology
; 106(5-6): 341-344, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33202411
7.
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Mol Genet Metab
; 129(2): 47-58, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31711734
8.
Post-mortem histopathology of a pediatric brain after bilateral DBS of GPI for status dystonicus: case report and review of the literature.
Childs Nerv Syst
; 36(9): 1845-1851, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32613424
9.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
10.
Deep Brain Stimulation of the Anterior Limb of the Internal Capsule May Be Efficacious for Explosive Aggressive Behaviour.
Stereotact Funct Neurosurg
; 94(6): 371-378, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798944
11.
Diagnostic methods and treatment options for focal cortical dysplasia.
Epilepsia
; 56(11): 1669-86, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26434565
12.
Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.
Dev Med Child Neurol
; 57(8): 777-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25412988
13.
Epileptic scalp ripples are associated with corticothalamic BOLD changes.
Epilepsia
; 55(10): 1611-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25167766
14.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Genes (Basel)
; 14(2)2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833224
15.
Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD.
Neurol Neuroimmunol Neuroinflamm
; 10(1)2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446614
16.
Impaired object identification in idiopathic childhood occipital epilepsy.
Epilepsia
; 53(4): 686-94, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22352401
17.
Seizure Outcome of Temporal Lobe Epilepsy Surgery in Adults and Children: A Systematic Review and Meta-Analysis.
Neurosurgery
; 91(5): 676-683, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35960753
18.
Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies.
J Pers Med
; 12(4)2022 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35455643
19.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 269(1): 437-450, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34487232
20.
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
Dev Med Child Neurol
; 53(4): 354-60, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309761