Detalhe da pesquisa
1.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
2.
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder.
Am J Med Genet A
; 194(5): e63524, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38169137
3.
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Epilepsia
; 60(9): 1881-1894, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31468518
4.
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
PLoS Genet
; 12(4): e1005848, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120463
5.
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium.
Epilepsia
; 56(4): 617-25, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25779538
6.
Clobazam is equally safe and efficacious for seizures associated with Lennox-Gastaut syndrome across different age groups: Post hoc analyses of short- and long-term clinical trial results.
Epilepsy Behav
; 46: 221-6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25940107
7.
Stable dosages of clobazam for Lennox-Gastaut syndrome are associated with sustained drop-seizure and total-seizure improvements over 3 years.
Epilepsia
; 55(4): 558-67, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24580023
8.
Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis.
Front Neurol
; 14: 1304610, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38130835
9.
An Adolescent with Increased Plasma Methylmalonic Acid and Total Homocysteine.
Clin Chem
; 63(6): 1069-1072, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550124
10.
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35217561
11.
Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
J Neurol
; 269(12): 6512-6529, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35960392
12.
Comparison of Cosyntropin, Vigabatrin, and Combination Therapy in New-Onset Infantile Spasms in a Prospective Randomized Trial.
J Child Neurol
; 37(3): 186-193, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35044272
13.
Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.
Neurol Neuroimmunol Neuroinflamm
; 9(3)2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260471
14.
Possible mitochondrial dysfunction and its association with antiretroviral therapy use in children perinatally infected with HIV.
J Infect Dis
; 202(2): 291-301, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20533872
15.
Immunotherapy responsive SARS-CoV-2 infection exacerbating opsoclonus myoclonus syndrome.
Mult Scler Relat Disord
; 50: 102855, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33677410
16.
Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.
Pediatr Neurol
; 114: 55-59, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33221597
17.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nat Commun
; 11(1): 595, 2020 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32001716
18.
Clobazam in the treatment of Lennox-Gastaut syndrome.
Epilepsia
; 50(5): 1158-66, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19170737
19.
Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy.
Mol Brain
; 12(1): 86, 2019 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31651342
20.
An International Pediatric-Onset Opsoclonus-Myoclonus Ataxia Syndrome Registry and Clinical Research Network: Development, Progress, and Vision.
Pediatr Neurol
; 148: 145-147, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37716108