Detalhe da pesquisa
1.
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.
Hum Mol Genet;
31(6): 901-913, 2022 03 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34617111
2.
On-Scalp Optically Pumped Magnetometers versus Cryogenic Magnetoencephalography for Diagnostic Evaluation of Epilepsy in School-aged Children.
Radiology;
304(2): 429-434, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35503013
3.
Hippocampal sclerosis and epilepsy surgery in neurofibromatosis type 1: case report of a 3-year-old child explored by SEEG and review of the literature.
Childs Nerv Syst;
38(6): 1217-1221, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34508273
4.
Resting-state functional brain connectivity is related to subsequent procedural learning skills in school-aged children.
Neuroimage;
240: 118368, 2021 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34242786
5.
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
Am J Med Genet A;
182(11): 2685-2693, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32808436
6.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A;
167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25604658
7.
Towards the automated detection of interictal epileptiform discharges with magnetoencephalography.
J Neurosci Methods;
403: 110052, 2024 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38151188
8.
Language development at 2 years is correlated to brain microstructure in the left superior temporal gyrus at term equivalent age: a diffusion tensor imaging study.
Neuroimage;
78: 145-51, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23583746
9.
Precision medicine: Vinpocetine as a potential treatment for GABRG2-related epilepsy.
Epileptic Disord;
25(3): 383-389, 2023 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37536979
10.
Atypical procedural learning skills in children with Developmental Coordination Disorder.
Child Neuropsychol;
29(8): 1245-1267, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36458657
11.
Case report: Subacute transverse myelitis with gait preservation secondary to Lyme disease and a review of the literature.
Front Pediatr;
11: 1064234, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37009275
12.
Frontoparietal 18F-FDG-PET hypo-metabolism in Lennox-Gastaut syndrome: Further evidence highlighting the key network.
Epilepsy Res;
192: 107131, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37054522
13.
How the Spreading and Intensity of Interictal Epileptic Activity Are Associated with Visuo-Spatial Skills in Children with Self-Limited Focal Epilepsy with Centro-Temporal Spikes.
Brain Sci;
13(11)2023 Nov 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38002525
14.
Molecular basis of ClC-6 function and its impairment in human disease.
Sci Adv;
9(41): eadg4479, 2023 10 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37831762
15.
Nonlinear microstructural changes in the right superior temporal sulcus and lateral occipitotemporal gyrus between 35 and 43 weeks in the preterm brain.
Neuroimage;
63(1): 104-10, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22713672
16.
Treatment of Focal-Onset Seizures in Children: Should This Be More Etiology-Driven?
Front Neurol;
13: 842276, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35330806
17.
Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy.
Ann Clin Transl Neurol;
9(7): 1095-1099, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35633140
18.
Cognitive, perceptual, and motor profiles of school-aged children with developmental coordination disorder.
Front Psychol;
13: 860766, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35992485
19.
Case Report: Interest of Positron Emission Tomography in Pediatric Small Vessel Primary Angiitis of the Central Nervous System.
Front Pediatr;
10: 794294, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35321014
20.
Atypical resting-state functional brain connectivity in children with developmental coordination disorder.
Neuroimage Clin;
33: 102928, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34959048