ORCID as entered in ROS
https://orcid.org/0000-0002-4472-0902
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Conference Papers
, 2024, '2959 Clinician understanding, acceptance and utilization of ketogenic diet therapy for epilepsy in Australia and New Zealand: a cross-sectional cohort study', BMJ, pp. a5.3 - a5a5, presented at
, 2024, 'RAINBOWFISH: primary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)', Zeppelini Editorial e Comunicacao, pp. 391 - 391, presented at
, 2022, '2240 The Australian Neuromuscular Disease Registry (ANMDR) – what is it and why now?', BMJ, pp. a22.1 - a2a22, presented at
, 2021, 'Onasemnogene Abeparvovec Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with 2 Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS
, 2021, 'Onasemnogene Abeparvovec Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with 3 Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000729283604012&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2021, 'Plasma Phosphorylated Neurofilament Heavy Chain (pNF-H) Level is Associated with Future Motor Function in Nusinersen-treated Individuals with Later-onset Spinal Muscular Atrophy (SMA)', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000729283602044&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2021, 'RAINBOWFISH: A Study of Risdiplam in Newborns with Presymptomatic Spinal Muscular Atrophy (SMA)', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS
, 2020, 'Longer-term Treatment With Nusinersen: Results in Later-onset Spinal Muscular Atrophy From the SHINE Study', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, CANADA, Toronto, presented at
, 2020, 'Nusinersen in Infantile-onset Spinal Muscular Atrophy: Results from Longer-term Treatment from the Open-label SHINE Extension Study', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, CANADA, Toronto, presented at
, 2020, 'Safety Profile of Nusinersen in Presymptomatic and Infantile-Onset Spinal Muscular Atrophy (SMA): Interim Results From the NURTURE and ENDEARSHINE Studies', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, CANADA, Toronto, presented at
, 2020, 'Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy in Presymptomatic Spinal Muscular Atrophy: SPR1NT Study Update (2384)', in Neurology, Wolters Kluwer, http://dx.doi.org/10.1212/wnl.94.15_supplement.2384
, 2019, 'Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset spinal muscular atrophy (SMA): Results from the shine study', in JOURNAL OF THE NEUROLOGICAL SCIENCES, ELSEVIER, U ARAB EMIRATES, Emirates Neurol Soc, Dubai, presented at
, 2019, 'AVXS-101 gene-replacement in presymptomatic infants with Spinal Muscular Atrophy (SMA): clinical trial design and baseline demographics', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, NORWAY, Oslo, pp. 437 - 437, presented at
, 2019, 'Onasemnogene Abeparvovec Gene-Replacement Therapy (GRT) in Pre-symptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update', in Neuropediatrics, Thieme, pp. s1 - s55, presented at
, 2019, 'AVXS-101 gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): study update', presented at
, 2019, 'Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels', Sydney, presented at
, 2019, 'Genetic carrier screening for duchenne muscular dystrophy: the outcome of over twenty years of genetic counselling on disease epidemiology in a single-centre cohort study in new south wales (NSW), australia', Sydney Australia, presented at
, 2018, 'Nusinersen and sleep in children with spinal muscular atrophy', in JOURNAL OF SLEEP RESEARCH, WILEY, AUSTRALIA, Brisbane, presented at
, 2018, 'Development and validation of the CMT infant scale', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY, MD, Baltimore, pp. 322 - 323, presented at
, 2017, 'RANDOMISED TRIAL OF PROGRESSIVE RESISTANCE EXERCISE FOR CHILDHOOD CHARCOT-MARIE-TOOTH DISEASE', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY, SPAIN, Sitges, pp. 249 - 250, presented at
, 2017, 'SENSITIVITY OF THE CMT INFANT SCALE: PRELIMINARY ANALYSIS OF CMT SUBTYPES AND COMPARISON TO CONTROLS', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY, SPAIN, Sitges, pp. 337 - 337, presented at
, 2017, 'LONG TERM OUTCOMES AND RISK FACTORS FOR CHEMOTHERAPY INDUCED PERIPHERAL NEUROPATHY IN CHILDHOOD CANCER SURVIVORS (S46.006)', in Neurology, Wolters Kluwer, http://dx.doi.org/10.1212/wnl.88.16_supplement.s46.006
, 2017, 'P.473 Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?', in Neuromuscular Disorders, Elsevier, pp. s237 - s238, http://dx.doi.org/10.1016/j.nmd.2017.06.513
, 2017, 'Longer-term Assessment of the Safety and Efficacy of Nusinersen for the Treatment of Infantile-Onset Spinal Muscular Atrophy (SMA): An Interim Analysis of the SHINE Study', Dallas, United States, presented at
, 2016, 'SENSITIVITY OF MRI AS A BIOMARKER OF DISEASE SEVERITY IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, SCOTLAND, Univ Glasgow, Glasgow, pp. 247 - 247, presented at
, 2016, 'Long term outcomes and risk factors for chemotherapy induced peripheral neuropathy in the paediatric population', Amsterdam, presented at
, 2015, 'RIBOFLAVIN TRANSPORTER MUTATIONS CAUSING BROWN-VIALETTO-VAN LAERE SYNDROME: UNIQUE CLINICAL AND AUDIOLOGICAL PROFILE, PATHOPHYSIOLOGY AND BENEFIT FROM RIBOFLAVIN', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, CANADA, Quebec, pp. 192 - 193, presented at
, 2014, 'G.P.35 Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies', in Neuromuscular Disorders, Elsevier, pp. 805, http://dx.doi.org/10.1016/j.nmd.2014.06.049
, 2014, 'Bone health in Duchenne muscular dystrophy: natural history, pathogenesis and treatment', Amsterdam, The Netherlands, presented at
, 2014, 'Enterovirus 71 associated lower motor neuron disease in infants and children', Amsterdam, The Netherlands, presented at
, 2013, 'HOW DO NERVES RESPOND TO PRESSURE? HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, FRANCE, Saint Malo, pp. 63 - 63, presented at
, 2013, 'PERIPHERAL MOTOR CONTRIBUTIONS TO THE PATHOPHYSIOLOGY OF BVVL-RELATED MUTATIONS IN RIBOFLAVIN TRANSPORTER 3: PATHOPHYSIOLOGICAL INSIGHTS FROM NERVE EXCITABILITY TESTING', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, FRANCE, Saint Malo, pp. 71 - 72, presented at
, 2010, 'Mechanisms of Neurodegeneration in Spinal Muscular Atrophy', in Australian and New Zealand Association of Neurologists Annual Scientific Meeting 2010: Leaps and Bounds, Melbourne, presented at
, 2010, 'Acute, reversible axonal energy failure during a stroke-like episode in MELAS', in Small D (ed.), 30th Annual Meeting of the Australian Neuroscience Society, Sydney, pp. 160 - 160, presented at
Conference Posters
, 2018, '267Local experience of hyperCKaemia in a multidisciplinary neuromuscular clinic', presented at World Muscle Society
, 2018, 'Recurrent rhabdomyolysis and subtle proximal weakness in two female siblings diagnosed with alpha sarcoglycanopathy and a review of the literature', presented at World Muscle Society
, 2017, 'Counting the uncounted costs of chronic Spinal Muscular Atrophy', Boston, United States, presented at American Academy of Neurology, Boston, United States
, 2017, 'Nusinersen Improves Motor Function in Infants with and without Permanent Ventilation: Results from the ENDEAR Study in Infantile-Onset Spinal Muscular Atrophy', Boston, United States, presented at 69th Annual Meeting of the American Academy of Neurology, Boston, United States
, 2016, 'Next Generation Sequencing in Spinal muscular atrophy syndromes', Kyoto, Japan, presented at 13th International Congress of Human Genetics, Kyoto, Japan
, 2016, 'Myotonic Dystrophy Type 1: Clinical manifestations in children and adolescents', Taiwan, presented at 15th Asian and Oceanic Myology Congress and Taiwanese Child Neurology Society Annual Scientific Meeting, Taiwan
, 2015, 'THE IMPACT OF NUTRITION ON RESPIRATORY FUNCTION IN DUCHENNE MUSCULAR DYSTROPHY', AUSTRALIA, Queensland, Vol. 20, pp. 91 - 91, presented at Thoracic Society Australia New Zealand Australian New Zealand Society Respiratory Science Annual Scientific Meeting 2015, AUSTRALIA, Queensland, 27 March 2015 - 01 April 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000351464400235&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2009, 'Acute, reversible axonal energy failure during a stroke-like episode in MELAS', Southport, Queensland, presented at Neurophysiology Workshop of the Australian and New Zealand Association of Neurologists, Southport, Queensland, 04 October 2009 - 07 October 2009
Conference Presentations
, 2019, 'Resource allocation in rare neurological disease: should the few benefit rather than the many? Invited presentation at Australian and New Zealand Association of Neurologists Annual Scientific Meeting', presented at Australian and New Zealand Association of Neurologists Annual Scientific Meeting, Sydney, Australia
, 2018, 'Treating spinal muscular atrophy, invited plenary presentation 42nd Human Genetics Society of Australia Annual Scientific Meeting.', presented at 42nd Human Genetics Society of Australia Annual Scientific Meeting., Sydney, Australia
, 2017, 'Australian and New Zealand Association of Neurologists Leonard Cox Award: Findings in Nerve Neverland: a neuromuscular adventure', presented at Australia and New Zeealand Association of Neurologists Annual Scientific Meeting, Australia
, 2017, 'Progress and challenges in Spinal Muscular Atrophy, Invited plenary presentation.', presented at Australia and New Zealand Child Neurology Society annual scientific meeting, Australia
, 2016, 'Australasian experiences of diagnosis, standard of care and clinical trials of spinal muscular atrophy. Invited plenary presentation', presented at 15th Asian and Oceanic Myology Congress and Taiwanese Child Nezurology Society Annual Scientific meeting, Taiwan
, 2013, 'Nerve excitability studies in paediatrics', presented at 9th International Paediatric EMG conference, Cambridge, United Kingdom
Conference Abstracts
, 2026, 'Broadly cross-reactive anti-capsid IgA is an overlooked barrier to AAV-mediated gene transfer', in MOLECULAR THERAPY, CELL PRESS, MA, Boston, Vol. 34, pp. 836 - 838, presented at Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), MA, Boston, 11 May 2026 - 15 May 2026
, 2026, 'First-in-human clinical trial of AAV9-mediated gene augmentation therapy for CTNNB1 neurodevelopmental syndrome', in MOLECULAR THERAPY, CELL PRESS, MA, Boston, Vol. 34, pp. 264 - 266, presented at Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), MA, Boston, 11 May 2026 - 15 May 2026
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https://orcid.org/0000-0002-4472-0902