Detalhe da pesquisa
1.
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
Mov Disord
; 39(2): 400-410, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38314870
2.
Randomized placebo-controlled crossover trial of memantine in children with epileptic encephalopathy.
Brain
; 146(3): 873-879, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256600
3.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Ann Neurol
; 89(3): 485-497, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236446
4.
Adrenal insufficiency among children treated with hormonal therapy for infantile spasms.
Epilepsia
; 63(9): 2350-2358, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759339
5.
Brain language networks and cognitive outcomes in children with frontotemporal lobe epilepsy.
Front Hum Neurosci
; 17: 1253529, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964801
6.
The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.
J Child Neurol
; 38(5): 329-335, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225698
7.
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.
Front Neurol
; 13: 913652, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36324377
8.
"Generalized-to-focal" epilepsy: stereotactic EEG and high-frequency oscillation patterns
Epileptic Disord
; 24(6): 1087-1094, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190316
9.
New interinstitutional, multimodal presurgical evaluation protocol associated with improved seizure freedom for poorly defined cases of focal epilepsy in children.
J Neurosurg Pediatr
; 29(1): 74-82, 2022 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34624842
10.
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.
J Child Neurol
; 37(4): 237-245, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34986037
11.
Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy.
JIMD Rep
; 45: 57-63, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349987
12.
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.
Pediatr Neurol
; 84: 21-26, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29859719
13.
Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.
Mov Disord
; 27(14): 1829-30, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23208740