Detalhe da pesquisa
1.
Genomic investigations of unexplained acute hepatitis in children.
Nature
; 617(7961): 564-573, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996872
2.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Brain
; 147(6): 2023-2037, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242634
3.
Mouse models for inherited monoamine neurotransmitter disorders.
J Inherit Metab Dis
; 47(3): 533-550, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168036
4.
Gene therapy for neurotransmitter-related disorders.
J Inherit Metab Dis
; 47(1): 176-191, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221762
5.
Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases.
Mov Disord
; 38(6): 924-936, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37147851
6.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588
7.
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
Brain
; 144(8): 2443-2456, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734312
8.
Viral gene therapy for paediatric neurological diseases: progress to clinical reality.
Dev Med Child Neurol
; 63(9): 1019-1029, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33834479
9.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472658
10.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Am J Hum Genet
; 98(4): 763-71, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058447
11.
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Am J Hum Genet
; 98(4): 735-43, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058446
12.
Ascending Vaginal Infection Using Bioluminescent Bacteria Evokes Intrauterine Inflammation, Preterm Birth, and Neonatal Brain Injury in Pregnant Mice.
Am J Pathol
; 188(10): 2164-2176, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30036519
13.
Chinese medical students' knowledge, attitude and practice towards human papillomavirus vaccination and their intention to recommend the vaccine.
J Paediatr Child Health
; 54(3): 302-310, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28876498
14.
ATP1A3-related neurological disorders and cerebellar ataxia in childhood.
Dev Med Child Neurol
; 63(1): 12-13, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33064300
15.
NKG2D ligation relieves 2B4-mediated NK-cell self-tolerance in mice.
Eur J Immunol
; 44(6): 1802-13, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24610736
16.
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Brain
; 137(Pt 4): 1107-19, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24613933
17.
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Brain
; 137(Pt 1): 44-56, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24253200
18.
Use of viscoelastic haemostatic assay in emergency and elective surgery.
Hong Kong Med J
; 21(1): 45-51, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25082123
19.
Impact of chronicity of injury on the proportion of mesenchymal stromal cells derived from anterior cruciate ligaments.
Cytotherapy
; 16(5): 586-98, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24411590
20.
What is new for monoamine neurotransmitter disorders?
J Inherit Metab Dis
; 37(4): 619-26, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24696406