Detalhe da pesquisa
1.
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Neuropediatrics
; 54(6): 433-438, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802085
2.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588
3.
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
4.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(3): 431-439, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100084
5.
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
6.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 108(12): 2385, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861176
7.
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.
Brain
; 146(1): e1-e4, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068688
8.
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Am J Med Genet A
; 176(3): 663-667, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29314551
9.
Multidirectional Nystagmus as the Presenting Sign of Brain Tumor with Hydrocephalus.
Neuropediatrics
; 54(6): 439-440, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37666275
10.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(5): 826, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388405
11.
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Brain
; 138(Pt 10): 2859-74, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26297560
12.
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Eur J Hum Genet
; 32(2): 224-231, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097767
13.
Correlations between Sleep Features and Iron Status in Children with Neurodevelopmental Disorders: A Cross-Sectional Study.
J Clin Med
; 12(15)2023 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37568350
14.
Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis.
Front Neurosci
; 17: 1048278, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021139
15.
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease.
J Child Neurol
; 38(10-12): 597-610, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728088
16.
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.
Eur J Paediatr Neurol
; 46: 98-107, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562161
17.
Sleep Disturbances in Pediatric Craniopharyngioma: A Systematic Review.
Front Neurol
; 13: 876011, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35651342
18.
A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors.
Eur J Paediatr Neurol
; 36: 1-6, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768201
19.
Movement lateralization and bimanual coordination in children with Tourette syndrome.
Mov Disord
; 26(11): 2114-8, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21932301
20.
Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients.
Front Neurol
; 12: 658451, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33897609