Detalhe da pesquisa
1.
Intrathecal Baclofen Pump Infection With Meningitis: Effective Treatment by Radical Debridement and Intrareservoir Baclofen-Vancomycin Co-Infusion.
Neuromodulation
; 24(7): 1223-1228, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33538029
2.
Congenital muscular dystrophies in China.
Clin Genet
; 96(3): 207-215, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066047
3.
Knowledge, attitude and ethical consideration of Chinese couples requesting preimplantation genetic testing in Hong Kong.
J Obstet Gynaecol Res
; 45(6): 1096-1105, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746853
4.
Effectiveness of nirmatrelvir/ritonavir in children and adolescents aged 12-17 years following SARS-CoV-2 Omicron infection: A target trial emulation.
Nat Commun
; 15(1): 4917, 2024 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38851796
5.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
6.
Significant healthcare burden and life cost of spinal muscular atrophy: real-world data.
Eur J Health Econ
; 24(8): 1373-1382, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403177
7.
The role of the gut-microbiome-brain axis in metabolic remodeling amongst children with cerebral palsy and epilepsy.
Front Neurol
; 14: 1109469, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36923492
8.
Severity of SARS-CoV-2 Omicron BA.2 infection in unvaccinated hospitalized children: comparison to influenza and parainfluenza infections.
Emerg Microbes Infect
; 11(1): 1742-1750, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730665
9.
Mental health & maltreatment risk of children with special educational needs during COVID-19.
Child Abuse Negl
; 130(Pt 1): 105457, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35033372
10.
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Mol Genet Genomic Med
; 8(5): e1205, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154989
11.
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Mol Genet Genomic Med
; 8(7): e1229, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32352246
12.
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Parkinsonism Relat Disord
; 63: 42-45, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670339
13.
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
Neuromuscul Disord
; 27(6): 531-536, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28416349
14.
Spinal primitive neuroectodermal tumor mimicking as chronic inflammatory demyelination polyneuropathy: a case report and review of literature.
J Child Neurol
; 30(2): 254-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24659733
15.
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.
Child Neurol Open
; 2(2): 2329048X15585345, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503591
16.
Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.
Neuromuscul Disord
; 24(8): 677-83, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24957499
17.
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol.
Pediatr Neurol
; 47(2): 137-40, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22759693
18.
Anti-NMDA receptor encephalitis with atypical brain changes on MRI.
Pediatr Neurol
; 43(4): 274-8, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20837307