Detalhe da pesquisa
1.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158856
2.
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
Epilepsia
; 65(4): 1072-1091, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411286
3.
Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
Pediatr Nephrol
; 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38376554
4.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183190
5.
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study.
J Neurol Neurosurg Psychiatry
; 94(3): 201-210, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460438
6.
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report.
Neuropediatrics
; 54(1): 73-77, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564023
7.
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Neuropediatrics
; 54(6): 433-438, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802085
8.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum Mutat
; 43(9): 1299-1313, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35607920
9.
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.
Neuropediatrics
; 53(1): 69-74, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34852372
10.
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.
Neuropediatrics
; 51(6): 425-429, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392611
11.
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy.
Neuroradiology
; 62(8): 1017, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32500275
12.
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy.
Neuroradiology
; 62(8): 1003-1015, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415392
13.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia
; 60(5): 830-844, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968951
14.
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Neuropediatrics
; 50(5): 327-331, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319423
15.
Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.
Cytogenet Genome Res
; 156(3): 144-149, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30508811
16.
Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.
Cytogenet Genome Res
; 156(1): 14-21, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086552
17.
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.
Neuropediatrics
; 49(3): 217-221, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29631299
18.
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
Cytogenet Genome Res
; 152(1): 22-28, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28605748
19.
Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia.
Neuroradiology
; 60(9): 885-888, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978300
20.
Hyaline Protoplasmic Astrocytopathy in the Setting of Epilepsy.
Am J Clin Pathol
; 159(2): 120-128, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495294