Detalhe da pesquisa
1.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet
; 32(15): 2441-2454, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133451
2.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108495
3.
Early administration of umbilical cord blood cells following brief high tidal volume ventilation in preterm sheep: a cautionary tale.
J Neuroinflammation
; 21(1): 121, 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38720368
4.
Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited.
Brain
; 146(2): 587-599, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871494
5.
Ganaxolone versus Phenobarbital for Neonatal Seizure Management.
Ann Neurol
; 92(6): 1066-1079, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054160
6.
Some children with idiopathic toe walking display sensory processing difficulties but not all: A systematic review.
Acta Paediatr
; 112(8): 1620-1632, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37161850
7.
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.
Genet Med
; 24(7): 1536-1544, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416776
8.
Common data elements to standardize genomics studies in cerebral palsy.
Dev Med Child Neurol
; 64(12): 1470-1476, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441707
9.
Making waves: The changing tide of cerebral palsy.
J Paediatr Child Health
; 58(11): 1929-1934, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066306
10.
The severe epilepsy syndromes of infancy: A population-based study.
Epilepsia
; 62(2): 358-370, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475165
11.
Melatonin augments the neuroprotective effects of hypothermia in lambs following perinatal asphyxia.
J Pineal Res
; 71(1): e12744, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34032315
12.
Early detection of cerebral palsy in high-risk infants: Translation of evidence into practice in an Australian hospital.
J Paediatr Child Health
; 57(2): 246-250, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32940939
13.
Pain in children with dyskinetic and mixed dyskinetic/spastic cerebral palsy.
Dev Med Child Neurol
; 62(11): 1294-1301, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710570
14.
The lived experience of chronic pain and dyskinesia in children and adolescents with cerebral palsy.
BMC Pediatr
; 20(1): 125, 2020 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32183802
15.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
16.
Longitudinal changes in bone density in adolescents and young adults with cerebral palsy: A case for early intervention.
Clin Endocrinol (Oxf)
; 91(4): 517-524, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31246317
17.
Umbilical cord blood versus mesenchymal stem cells for inflammation-induced preterm brain injury in fetal sheep.
Pediatr Res
; 86(2): 165-173, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858474
18.
Hypotonic cerebral palsy.
Child Care Health Dev
; 50(3): e13258, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558298
19.
Intranasal Delivery of Mesenchymal Stromal Cells Protects against Neonatal Hypoxicâ»Ischemic Brain Injury.
Int J Mol Sci
; 20(10)2019 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31108944
20.
Human Umbilical Cord Blood Therapy Protects Cerebral White Matter from Systemic LPS Exposure in Preterm Fetal Sheep.
Dev Neurosci
; 40(3): 258-270, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30179864