Detalhe da pesquisa
1.
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.
Hum Genet
; 142(8): 1029-1041, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36847845
2.
Congenital disorders of glycosylation and infantile epilepsy.
Epilepsy Behav
; 142: 109214, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086590
3.
Genotype-Phenotype Dissociation in Two Taiwanese Children with Molybdenum Cofactor Deficiency Caused by MOCS2 Mutation.
Neuropediatrics
; 53(3): 200-203, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34674206
4.
Risk of SUDEP during infancy.
Epilepsy Behav
; 131(Pt B): 107896, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33741238
5.
Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders.
Dev Med Child Neurol
; 63(8): 934-938, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244750
6.
Urine catecholamines in children with severe Enterovirus A71 infection: comparison with paediatric septic shock.
Biomarkers
; 24(3): 277-285, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30521401
7.
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency.
Hum Mutat
; 39(12): 2072-2082, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30260058
8.
Epileptic seizure in primary intracranial sarcoma: a case report and literature review.
Childs Nerv Syst
; 32(9): 1709-14, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412478
9.
The Impact of Anti-Epileptic Drugs on Growth and Bone Metabolism.
Int J Mol Sci
; 17(8)2016 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27490534
10.
Targeting New Candidate Genes by Small Molecules Approaching Neurodegenerative Diseases.
Int J Mol Sci
; 17(1)2015 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26712747
11.
Modality and children's scope understanding.
J Psycholinguist Res
; 43(5): 487-506, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23996138
12.
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
Arch Dis Child
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38789118
13.
Long-Term Outcome of Pediatric Patients with Anti-NMDA Receptor Encephalitis in a Single Center.
Children (Basel)
; 10(2)2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36832312
14.
Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathy.
Clin Neurol Neurosurg
; 214: 107142, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149262
15.
Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review
Brain Sci
; 12(9)2022 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36138999
16.
Obscure manifestations of Salmonella subdural empyema in children: case report and literature review.
Childs Nerv Syst
; 27(4): 591-5, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20821214
17.
SCN8A Encephalopathy: Case Report and Literature Review.
Neurol Int
; 13(2): 143-150, 2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33915942
18.
Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
Life (Basel)
; 11(11)2021 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34832987
19.
Optimal Use of Perampanel in Asian Patients with Epilepsy: Expert Opinion.
Ther Clin Risk Manag
; 17: 739-746, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321883
20.
Catecholamine-Induced Secondary Takotsubo Syndrome in Children With Severe Enterovirus 71 Infection and Acute Heart Failure: A 20-year Experience of a Single Institute.
Front Cardiovasc Med
; 8: 752232, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34631843