ORCID as entered in ROS

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2023, 'CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation', eBioMedicine, 91, http://dx.doi.org/10.1016/j.ebiom.2023.104589
,2023, 'Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study', The Lancet Child and Adolescent Health, 7, pp. 159 - 170, http://dx.doi.org/10.1016/S2352-4642(22)00342-X
,2023, 'Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology.', Brain, http://dx.doi.org/10.1093/brain/awad061
,2023, 'Childhood Dementia: A Collective Clinical Approach to Advance Therapeutic Development and Care', Pediatric Neurology, 139, pp. 76 - 85, http://dx.doi.org/10.1016/j.pediatrneurol.2022.11.015
,2023, 'Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study', Pharmaceutics, 15, pp. 170 - 170, http://dx.doi.org/10.3390/pharmaceutics15010170
,2023, 'Multidisciplinary perspectives and practices of wheelchair prescription for children with neuromuscular conditions', Disability and Rehabilitation: Assistive Technology, 18, pp. 166 - 174, http://dx.doi.org/10.1080/17483107.2020.1839793
,2023, 'Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy', Journal of Neuromuscular Diseases, 10, pp. 15 - 28, http://dx.doi.org/10.3233/JND-221535
,2023, 'Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy', Molecular Therapy, http://dx.doi.org/10.1016/j.ymthe.2023.03.032
,2023, 'Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years', Brain and Development, http://dx.doi.org/10.1016/j.braindev.2023.03.002
,2023, '"The usual challenges of work are all magnified": Australian paediatric health professionals' experiences during the COVID-19 pandemic.', Int J Cardiol Congenit Heart Dis, 11, pp. 100434, http://dx.doi.org/10.1016/j.ijcchd.2022.100434
,2022, '‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics', Health Expectations, 25, pp. 3175 - 3191, http://dx.doi.org/10.1111/hex.13625
,2022, 'Incidence of Duchenne muscular dystrophy in the modern era; an Australian study', European Journal of Human Genetics, 30, pp. 1398 - 1404, http://dx.doi.org/10.1038/s41431-022-01138-2
,2022, 'The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review', Orphanet Journal of Rare Diseases, 17, http://dx.doi.org/10.1186/s13023-022-02317-6
,2022, 'Circulating neurofilaments to track dorsal root ganglion toxicity risks with AAV-mediated gene therapy', Molecular Therapy - Methods and Clinical Development, 26, pp. 96 - 97, http://dx.doi.org/10.1016/j.omtm.2022.06.005
,2022, 'Delivering paediatric precision medicine: Genomic and environmental considerations along the causal pathway of childhood neurodevelopmental disorders', Developmental Medicine and Child Neurology, 64, pp. 1077 - 1084, http://dx.doi.org/10.1111/dmcn.15289
,2022, 'Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency', International Journal of Neonatal Screening, 8, http://dx.doi.org/10.3390/ijns8030044
,2022, 'Emerging therapies for Duchenne muscular dystrophy', The Lancet Neurology, 21, pp. 814 - 829, http://dx.doi.org/10.1016/S1474-4422(22)00125-9
,2022, 'Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency', International Journal of Neonatal Screening, 8, http://dx.doi.org/10.3390/ijns8030045
,2022, 'Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial', Nature Medicine, 28, pp. 1390 - 1397, http://dx.doi.org/10.1038/s41591-022-01867-3
,2022, 'Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial', Nature Medicine, 28, pp. 1381 - 1389, http://dx.doi.org/10.1038/s41591-022-01866-4
,2022, 'Family, healthcare professional, and societal preferences for the treatment of infantile spinal muscular atrophy: A discrete choice experiment', Developmental Medicine and Child Neurology, 64, pp. 753 - 761, http://dx.doi.org/10.1111/dmcn.15135
,2022, 'Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme', Developmental Medicine and Child Neurology, 64, pp. 625 - 632, http://dx.doi.org/10.1111/dmcn.15117
,2022, 'Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders', Pediatric Pulmonology, http://dx.doi.org/10.1002/ppul.25890
,2022, 'Ethical aspects of the changing landscape for spinal muscular atrophy management in Australia', Australian Journal of General Practice, 51, pp. 131 - 135
,2022, 'Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy', Annals of Clinical and Translational Neurology, 9, pp. 339 - 350, http://dx.doi.org/10.1002/acn3.51519
,2022, 'Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model', CNS Drugs, 36, pp. 181 - 190, http://dx.doi.org/10.1007/s40263-022-00899-0
,2022, 'Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen', Journal of Physiology, 600, pp. 95 - 109, http://dx.doi.org/10.1113/JP282249
,2022, 'Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease', Journal of Neurology, Neurosurgery and Psychiatry, 93, pp. 530 - 538, http://dx.doi.org/10.1136/jnnp-2021-328483
,2022, 'Corrigendum to ‘Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen’: Neuromuscular Disorders 31 (2021) 310–318/doi: 10.1016/j.nmd.2021.02.014. (Neuromuscular Disorders (2021) 31(4) (310–318), (S0960896621000420), (10.1016/j.nmd.2021.02.014))', Neuromuscular Disorders, 32, pp. e1 - e1, http://dx.doi.org/10.1016/j.nmd.2022.01.002
,2022, 'Onasemnogene abeparvovec for the treatment of spinal muscular atrophy', Expert Opinion on Biological Therapy, 22, pp. 1075 - 1090, http://dx.doi.org/10.1080/14712598.2022.2066471
,2022, 'The changing therapeutic landscape of spinal muscular atrophy', Australian Journal of General Practice, 51, pp. 38 - 42, http://dx.doi.org/10.31128/AJGP-03-21-5924
,2022, '“The Usual Challenges of Work Are All Magnified”: Australian Paediatric Health Professionals’ Experiences During the COVID-19 Pandemic', Heart, Lung and Circulation, 31, pp. S278 - S278, http://dx.doi.org/10.1016/j.hlc.2022.06.468
,2022, 'FP.24 RAINBOWFISH: Preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)', Neuromuscular Disorders, 32, pp. S85 - S86, http://dx.doi.org/10.1016/j.nmd.2022.07.183
,2022, 'P.113 Safety update: Risdiplam clinical trial development program', Neuromuscular Disorders, 32, pp. S89 - S89, http://dx.doi.org/10.1016/j.nmd.2022.07.198
,2022, 'WE-149. Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen', Clinical Neurophysiology, 141, pp. S73 - S74, http://dx.doi.org/10.1016/j.clinph.2022.07.193
,2021, 'Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy', Muscle and Nerve, 64, pp. 413 - 427, http://dx.doi.org/10.1002/mus.27363
,2021, 'Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience', Paediatric Respiratory Reviews, 39, pp. 54 - 60, http://dx.doi.org/10.1016/j.prrv.2020.09.002
,2021, 'Spinal muscular atrophy: A new treatment paradigm of proactive care', Medicine Today, 22, pp. 55 - 60
,2021, 'Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency', Journal of Molecular Diagnostics, 23, pp. 894 - 905, http://dx.doi.org/10.1016/j.jmoldx.2021.04.007
,2021, 'Growth and nutrition in pediatric neuromuscular disorders', Clinical Nutrition, 40, pp. 4341 - 4348, http://dx.doi.org/10.1016/j.clnu.2021.01.013
,2021, 'Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go', Neuromuscular Disorders, 31, pp. 574 - 582, http://dx.doi.org/10.1016/j.nmd.2021.03.007
,2021, 'Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome', Pediatric Research, 89, pp. 1447 - 1451, http://dx.doi.org/10.1038/s41390-020-1002-7
,2021, 'Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen', Neuromuscular Disorders, 31, pp. 310 - 318, http://dx.doi.org/10.1016/j.nmd.2021.02.014
,2021, 'Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series', Journal of Pediatrics, 231, pp. 265 - 268, http://dx.doi.org/10.1016/j.jpeds.2020.11.054
,2021, '“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy', EClinicalMedicine, 33, http://dx.doi.org/10.1016/j.eclinm.2021.100742
,2021, 'WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase', NEUROLOGY-GENETICS, 7, http://dx.doi.org/10.1212/NXG.0000000000000554
,2021, 'Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen', Journal of Neurology, Neurosurgery and Psychiatry, 92, pp. 78 - 85, http://dx.doi.org/10.1136/jnnp-2020-324254
,2021, 'Newborn screening for spinal muscular atrophy with disease-modifying therapies: A cost-effectiveness analysis', Journal of Neurology, Neurosurgery and Psychiatry, http://dx.doi.org/10.1136/jnnp-2021-326344
,2021, 'A national harmonised data collection network for neurodevelopmental disorders: A transdiagnostic assessment protocol for neurodevelopment, mental health, functioning and well‐being', JCPP Advances, 1, http://dx.doi.org/10.1002/jcv2.12048
,2021, 'SMA - TREATMENT', Neuromuscular Disorders, 31, pp. S133 - S133, http://dx.doi.org/10.1016/j.nmd.2021.07.299
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