Detalhe da pesquisa
1.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038360
2.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775
3.
Diagnostic Criteria for Primary Tic Disorders: Time for Reappraisal.
Mov Disord
; 2024 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38894500
4.
Reply to: "Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLAN: The "Double Cortex Sign"".
Mov Disord
; 38(10): 1973, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37885407
5.
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
Brain
; 145(5): e36-e40, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35231119
6.
Botulinum Neurotoxin Injections in Children with Self-Injurious Behaviors.
Toxins (Basel)
; 15(4)2023 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37104174
7.
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.
Genes (Basel)
; 14(10)2023 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895210
8.
Tics and TikTok: Functional Tics Spread Through Social Media.
Mov Disord Clin Pract
; 8(8): 1248-1252, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34765689
9.
Tics, tremors and other movement disorders in childhood.
Curr Probl Pediatr Adolesc Health Care
; 51(3): 100983, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33832853
10.
Botulinum Neurotoxin Injections in Childhood Opisthotonus.
Toxins (Basel)
; 13(2)2021 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673369
11.
A case of treatable encephalopathy, developmental regression, and proximal tremor.
Parkinsonism Relat Disord
; 93: 111-113, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34920839
12.
Increased Incidence of Functional (Psychogenic) Movement Disorders in Children and Adults Amid the COVID-19 Pandemic: A Cross-sectional Study.
Neurol Clin Pract
; 11(5): e686-e690, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34840884
13.
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.
Eur J Paediatr Neurol
; 31: 21-26, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578253
14.
Effective Treatment of Geniospasm: Case Series and Review of the Literature.
Tremor Other Hyperkinet Mov (N Y)
; 10: 31, 2020 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32874771
15.
An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.
Front Cell Dev Biol
; 8: 528742, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33134290
16.
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations.
Mov Disord Clin Pract
; 6(1): 34-39, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746413
17.
Pediatric West Nile Virus-Associated Neuroinvasive Disease: A Review of the Literature.
Pediatr Neurol
; 92: 16-25, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30611518
18.
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
Eur J Med Genet
; 62(6): 103531, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30142436