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.
Targeting Telomerase and ATRX/DAXX Inducing Tumor Senescence and Apoptosis in the Malignant Glioma.
Int J Mol Sci
; 20(1)2019 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30625996
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.
The Molecular Mechanisms of Plant-Derived Compounds Targeting Brain Cancer.
Int J Mol Sci
; 19(2)2018 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29385679
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.
Mitochondrial DNA copy number is associated with diagnosis and prognosis of head and neck cancer.
Biomarkers
; 19(4): 269-74, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24773072
12.
ììì ì¤ì¸ìëì ì§ì ììì ê²½íì ê²½ê³ë¥¼ ëì´ì.
Dev Med Child Neurol
; 61(7): e3, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192466
13.
Challenging the boundaries of child neurology in Asia and Oceania.
Dev Med Child Neurol
; 61(7): 737, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192467
14.
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
15.
Cerebellar atrophy in genetic epileptic encephalopathies: A cohort study and a systematic review.
Seizure
; 120: 41-48, 2024 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38897163
16.
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
17.
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
18.
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
19.
Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome?
Epilepsia
; 52 Suppl 8: 28-30, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21967356
20.
Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children.
Epilepsia
; 52(11): 1956-65, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21883180