Detalhe da pesquisa
1.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606373
2.
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Am J Med Genet A
; 185(2): 362-369, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170557
3.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat
; 41(7): 1263-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196822
4.
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Clin Genet
; 97(2): 305-311, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628766
5.
Correction to: Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.
Pediatr Radiol
; 50(8): 1161, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32444953
6.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Clin Genet
; 95(5): 575-581, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788845
7.
Microvascular decompression with partial occipital condylectomy in a case of pediatric spasmodic torticollis.
Childs Nerv Syst
; 35(7): 1263-1266, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30701298
8.
Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.
Pediatr Radiol
; 49(13): 1762-1772, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31745619
9.
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Am J Med Genet B Neuropsychiatr Genet
; 180(1): 55-67, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30536762
10.
Transcranial Direct Current Stimulation (tDCS) Paired with Occupation-Centered Bimanual Training in Children with Unilateral Cerebral Palsy: A Preliminary Study.
Neural Plast
; 2018: 9610812, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30627151
11.
A case-controlled comparison of postoperative analgesic dosing between girls with Rett syndrome and girls with and without developmental disability undergoing spinal fusion surgery.
Paediatr Anaesth
; 27(3): 290-299, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28177174
12.
Synergistic effect of combined transcranial direct current stimulation/constraint-induced movement therapy in children and young adults with hemiparesis: study protocol.
BMC Pediatr
; 15: 178, 2015 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26558386
13.
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Mov Disord Clin Pract
; 11(6): 708-715, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38698576
14.
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Orphanet J Rare Dis
; 18(1): 269, 2023 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667351
15.
Anodal Contralesional tDCS Enhances CST Excitability Bilaterally in an Adolescent with Hemiparetic Cerebral Palsy: A Brief Report.
Dev Neurorehabil
; 26(3): 216-221, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967533
16.
Chronic striatal cholinergic interneuron excitation induces clinically-relevant dystonic behavior in mice.
bioRxiv
; 2023 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503287
17.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology
; 100(6): e603-e615, 2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307226
18.
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Mol Genet Genomic Med
; 10(5): e1917, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318820
19.
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
Mov Disord
; 31(11): 1752-1753, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27653636
20.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Genome Med
; 13(1): 63, 2021 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33874999