Detalhe da pesquisa
1.
Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy.
Mol Ther
; 31(7): 1979-1993, 2023 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37012705
2.
Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen.
J Physiol
; 600(1): 95-109, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34783018
3.
Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.
Dev Med Child Neurol
; 64(5): 625-632, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34839535
4.
Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience.
Paediatr Respir Rev
; 39: 54-60, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-33129670
5.
Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen.
J Neurol Neurosurg Psychiatry
; 2020 Oct 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33106369
6.
First Trimester Protein Biomarkers for Risk of Spontaneous Preterm Birth: Identifying a Critical Need for More Rigorous Approaches to Biomarker Identification and Validation.
Fetal Diagn Ther
; 47(6): 497-506, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32097912
7.
Personalized medicine for children with spinal muscular atrophy: Toward the holy grail.
Muscle Nerve
; 62(4): 425-426, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32696479
8.
Differential placental gene expression in term pregnancies affected by fetal growth restriction and macrosomia.
Fetal Diagn Ther
; 36(2): 173-80, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24685769
9.
Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective.
Expert Rev Neurother
; 23(7): 571-586, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37227306
10.
Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study.
Pharmaceutics
; 15(1)2023 Jan 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36678797
11.
Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study.
Lancet Child Adolesc Health
; 7(3): 159-170, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36669516
12.
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.
Genes (Basel)
; 14(7)2023 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37510307
13.
Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers.
Pediatr Neurol
; 149: 75-83, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37806042
14.
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.
Eur J Hum Genet
; 30(12): 1398-1404, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35754057
15.
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy.
Ann Clin Transl Neurol
; 9(3): 339-350, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35170254
16.
Growth and nutrition in pediatric neuromuscular disorders.
Clin Nutr
; 40(6): 4341-4348, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33551221
17.
"We needed this": perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy.
EClinicalMedicine
; 33: 100742, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33842861
18.
Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review.
Orphanet J Rare Dis
; 15(1): 70, 2020 03 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32164772
19.
"Getting ready for the adult world": how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being.
Orphanet J Rare Dis
; 14(1): 74, 2019 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30940178
20.
Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy.
Front Neurol
; 10: 898, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31481927