A5086318072- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Congenital Anomalies and Fetal Surgery
- RNA modifications and cancer
- Urban Planning and Governance
- Prosthetics and Rehabilitation Robotics
- Connective tissue disorders research
- Cultural Industries and Urban Development
- Neurological disorders and treatments
- CAR-T cell therapy research
- Hereditary Neurological Disorders
- Mechanical Circulatory Support Devices
- Cerebral Palsy and Movement Disorders
- Peripheral Neuropathies and Disorders
- Urban Design and Spatial Analysis
- Genetic Neurodegenerative Diseases
- Foreign Body Medical Cases
- Esophageal and GI Pathology
- Pain Management and Treatment
- Geographies of human-animal interactions
- Medical and Biological Ozone Research
- Ophthalmology and Eye Disorders
- Genetic Syndromes and Imprinting
- Urban Planning and Landscape Design
- Retinal Diseases and Treatments
Royal Children's Hospital
2016-2025
Murdoch Children's Research Institute
2017-2025
The University of Melbourne
2009-2025
John Wiley & Sons (United States)
2021
Leeds Teaching Hospitals NHS Trust
2016
University of Leeds
2014
Abstract Objective To provide a greater understanding of the tolerability, safety and clinical outcomes onasemnogene abeparvovec in real‐world practice, broad population infants with spinal muscular atrophy (SMA). Methods A prospective cohort study children SMA treated at Sydney Children's Hospital Network, Australia was conducted from August 2019 to November 2021. Safety included laboratory evaluations. Efficacy assessments World Health Organisation (WHO) motor milestones, oral swallowing...
Background ATL1102 is a 2’MOE gapmer antisense oligonucleotide to the CD49d alpha subunit of VLA-4, inhibiting expression on lymphocytes, reducing survival, activation and migration sites inflammation. Children with DMD have dystrophin deficient muscles susceptible contraction induced injury, which triggers immune system, exacerbating muscle damage. biomarker disease severity in DMD, increased numbers high expressing T cells correlating more severe progressive weakess, despite corticosteroid...
Debates over definitions of urban graffiti as either ‘street art’ or ‘vandalism’ tend to focus on contributions the field artistic practice violations a legal code. This paper explores place an spatial practice—why is where it and what its role in constructions experiences place? Through interviews mapping inner-city Melbourne, ways that potential for different types mediated by micro-morphology city becomes embodied into habitus symbolic capital. From framework Deleuzian assemblage theory...
Background Spinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing expanded access programme (EAP) to enable preapproval nusinersen, first disease-modifying therapy, for SMA type 1. Methods An multicentre, open-label EAP nusinersen enrolled patients with infantile-onset 1 from November 2016 September 2017. Standard-of-care medical therapy treatment...
During the 1990s, urban planning in Melbourne changed from prescriptive regulation to a place-based performance framework with focus on existing or desired ‘urban character’. This paper is case study of contentious project inner-Melbourne suburb Fitzroy: highly valued place characterised as an irregular and transgressive mix differences: between building types, functions, forms, heights people. Contrasting conceptions, experiences constructions ‘character’ are explored viewpoints residents,...
Compact city policies such as Melbourne 2030 have been established in Australia for a range of reasons including climate change. It is now clear that the policy has not effective—with new development mostly on urban fringe. This failure often sheeted home to resident and local government resistance densification. article suggests this narrative insufficient explain at metropolitan-wide scale clearly mistaken one suburb, where aspects planning system appear thwart aims strategic by...
This analysis evaluated the cost-effectiveness of newborn screening (NBS) for spinal muscular atrophy (SMA) from perspective Australian state hospital payers. A cost-utility consisting a decision tree and Markov cohort designed to calculate difference in costs health outcomes between two scenarios: (1) disease-modifying treatment (DMT) SMA after diagnosis through NBS, (2) DMT as symptoms appear. population 295,906 newborns was modeled, based on total number live births Australia 2023. Inputs...
There is limited evidence describing the changing natural history of DMD in Australia. This retrospective cohort study collated information on clinical management and disease milestones from medical records males with attending a paediatric hospital between 1973 2019 linked this to two adult tertiary hospitals. Data were stratified by decade birth Kaplan Meier analyses conducted describe median time key milestones. The included 356 individuals year ranging 1958 2014 (interquartile range,...
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a rare, progressive muscle disease with no available disease‐modifying therapy. Creatine monohydrate (CrM) has been shown to improve strength in individuals dystrophies but not tested young people FSHD. This study aimed explore the efficacy of CrM on motor function children Methods In randomized placebo‐controlled double‐blind crossover trial, powdered at dose 100 mg/kg/day (maximum 10 g daily) was compared placebo two...
Urban intensification is a key planning strategy in the UK, but one that frequently resisted by local residents objecting to transformations of urban character. This paper concerned with factors underlie such resistance, and opportunities for addressing them through process. The relates case-study East London district Dalston where mixed-use redevelopment project, strongly supported authorities, was fiercely who claimed existing character locality being violated. Reflecting on case theories...
Aim Previous studies suggest a higher prevalence of neurological disease within certain ethnic communities, but have not specifically considered neuromuscular diseases ( NMD s). The aim this study was to calculate the and relationship s ethnicity deprivation status. Method We undertook retrospective case‐note review those younger than 16 years with confirmed diagnosis in single centre Yorkshire 2010. Results Two‐hundred sixty‐one cases were included. population (0–16y) 707 961. overall 36.9...
Abstract Introduction/Aims In response to coronavirus disease 2019 (COVID‐19) pandemic restrictions int 2020, our face‐to‐face (F2F) multidisciplinary neuromuscular clinic (NMC) transitioned widespread use of telehealth (TH). This study aimed (1) understand parent/guardian, child, and clinician perceptions TH; (2) examine TH‐related changes in clinical activity; (3) these findings inform a future model care for the NMC. Methods A audit was undertaken activity throughout 2018–2020. Online...
Abstract Background ATL1102 is a 2’MOE gapmer antisense oligonucleotide to the CD49d alpha subunit of VLA-4. inhibits expression on lymphocytes, thereby reducing their survival, activation and migration sites inflammation. Children with Duchenne muscular dystrophy (DMD) have dystrophin deficient muscles. These are susceptible contraction induced injury which triggers immune system, exacerbating muscle damage. biomarker disease severity in DMD, increased numbers high expressing T cells...
The Friedreich Ataxia Rating Scale (FARS) and the for Assessment of (SARA) are commonly used neurological rating scales in ataxia (FRDA). modified (mFARS) has been accepted as an appropriate outcome measure clinical trials FRDA.The COVID-19 pandemic resulted limited face-to-face interactions with individuals involved natural history studies trials. aim this study was to determine validity conducting mFARS SARA through video.Individuals who had administered previous 6 months were invited...
A 14 year old girl presented to the Emergency Department with blurred vision two months after commencing Lamotrigine due a new diagnosis of Juvenile Absence Epilepsy.She had no other significant active or past medical history.An MRI brain performed electively weeks prior presentation for investigation headaches and seizures was normal orbital views.