Select Publications
Conference Papers
2017, 'LONG TERM OUTCOMES AND RISK FACTORS FOR CHEMOTHERAPY INDUCED PERIPHERAL NEUROPATHY IN CHILDHOOD CANCER SURVIVORS', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000577381505376&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,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 Annual Cure SMA Conference, Dallas, United States
,2016, 'Long term outcomes and risk factors for chemotherapy induced peripheral neuropathy in the paediatric population', Amsterdam, presented at 14th International Child Neurology Congress, Amsterdam, 01 May 2016 - 05 May 2016
,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 Biennial Meeting of the Peripheral-Nerve-Society, CANADA, Quebec, 27 June 2015 - 02 July 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000360214600274&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, '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, PERGAMON-ELSEVIER SCIENCE LTD, GERMANY, Berlin, pp. 805 - 805, presented at 19th International Congress of the World-Muscle-Society, GERMANY, Berlin, 07 October 2014 - 11 October 2014, 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 13th International Child Neurology Congress, Amsterdam, The Netherlands
,2014, 'Enterovirus 71 associated lower motor neuron disease in infants and children', Amsterdam, The Netherlands, presented at 13th International Child Neurology Congress, Amsterdam, The Netherlands
,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 Meeting of the Peripheral-Nerve-Society, FRANCE, Saint Malo, 29 June 2013 - 03 July 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200160&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,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 Meeting of the Peripheral-Nerve-Society, FRANCE, Saint Malo, 29 June 2013 - 03 July 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200182&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,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 Australian and New Zealand Association of Neurologists Annual Scientific Meeting 2010, Melbourne, 17 May 2010 - 20 May 2010
,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 Australian Neurosciences Society Annual Scientific Meeting 2010, Sydney, 31 January 2010 - 03 February 2010
,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
2022, 'Rationale/design of the phase 3b ASCEND study of investigational higher dose nusinersen in participants with SMA previously treated with risdiplam', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, Vol. 32, pp. S86 - S86, http://dx.doi.org/10.1016/j.nmd.2022.07.185
,2022, 'Onasemnogene Abeparvovec for Presymptomatic Infants with Spinal Muscular Atrophy and Two Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, WA, Seattle, Vol. 98, presented at Annual Meeting of the American-Academy-of-Neurology, WA, Seattle, 02 April 2022 - 07 April 2022, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000894020500383&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2022, 'Onasemnogene Abeparvovec in Presymptomatic Spinal Muscular Atrophy (SMA): SPRINT Study Update in Children with Three Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, WA, Seattle, Vol. 98, presented at Annual Meeting of the American-Academy-of-Neurology, WA, Seattle, 02 April 2022 - 07 April 2022, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000894020500058&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2022, 'RAINBOWFISH: Preliminary Efficacy and Safety Data in Risdiplam-Treated Infants with Presymptomatic SMA', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, WA, Seattle, Vol. 98, presented at Annual Meeting of the American-Academy-of-Neurology, WA, Seattle, 02 April 2022 - 07 April 2022, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000894020500235&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2022, 'Respiratory outcomes before and after the introduction of nusinersen in patients with spinal muscular atrophy (Types 1-3)', in RESPIROLOGY, WILEY, Vol. 27, pp. 63 - 63, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000769654800098&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2021, 'Phosphorylated neurofilament heavy chain level is associated with future motor function in nusinersen-treated individuals with infantile-onset SMA', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, ELECTR NETWORK, Vol. 31, pp. S137 - S137, presented at Virtual Congress of the World-Muscle-Society, ELECTR NETWORK, 20 September 2021 - 24 September 2021, http://dx.doi.org/10.1016/j.nmd.2021.07.311
,2021, 'RAINBOWFISH: A study of risdiplam in infants with presymptomatic spinal muscular atrophy (SMA)', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, ELECTR NETWORK, Vol. 31, pp. S48 - S48, presented at Virtual Congress of the World-Muscle-Society, ELECTR NETWORK, 20 September 2021 - 24 September 2021, http://dx.doi.org/10.1016/j.nmd.2021.07.021
,2021, 'RAINBOWFISH: A study of risdiplam in infants with presymptomatic SMA', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, Vol. 28, pp. 396 - 396, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000663065900583&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2021, 'PREDICTORS OF NOCTURNAL HYPOVENTILATION IN PAEDIATRIC NEUROMUSCULAR PATIENTS: FVC Z-SCORE', in RESPIROLOGY, WILEY, Vol. 26, pp. 190 - 190, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000644657800360&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2020, 'Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders: a threshold for FVC z-score', in EUROPEAN RESPIRATORY JOURNAL, EUROPEAN RESPIRATORY SOC JOURNALS LTD, Vol. 56, http://dx.doi.org/10.1183/13993003.congress-2020.1223
,2020, 'Longer-term Nusinersen Treatment According to Age at First Dose: Results From the SHINE Study in Later-onset Spinal Muscular Atrophy', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, ELECTR NETWORK, Vol. 27, pp. 221 - 221, presented at 6th Congress of the European-Academy-of-Neurology (EAN), ELECTR NETWORK, 23 May 2020 - 26 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000534616800321&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,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 Neuromuscular Disorders, Elsevier, DENMARK, Copenhagen, Vol. 29, pp. s184, presented at 24th International Annual Congress of the World-Muscle-Society (WMS), DENMARK, Copenhagen, 01 October 2019 - 05 October 2019, http://dx.doi.org/10.1016/j.nmd.2019.06.514
,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', in JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, BMJ PUBLISHING GROUP, AUSTRALIA, Sydney, Vol. 90, presented at Annual Scientific Meeting of the Australian-and-New Zealand-Association-of-Neurologists (ANZAN), AUSTRALIA, Sydney, 21 May 2019 - 24 May 2019, http://dx.doi.org/10.1136/jnnp-2019-anzan.22
,2019, 'Compliance to Respiratory Care Guidelines for Children with Neuromuscular Disease at Sydney Children's Hospital', in AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, AMER THORACIC SOC, TX, Dallas, Vol. 199, presented at International Conference of the American-Thoracic-Society, TX, Dallas, 17 May 2019 - 22 May 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000466771104303&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2019, 'Interim Report on the Safety and Efficacy of Longer-Term Treatment With Nusinersen in Infantile-Onset Spinal Muscular Atrophy (SMA): Updated Results From the SHINE Study', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, PA, Philadelphia, Vol. 92, presented at 71st Annual Meeting of the American-Academy-of-Neurology (AAN), PA, Philadelphia, 04 May 2019 - 10 May 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000475965906183&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,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 NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, PA, Philadelphia, Vol. 92, presented at 71st Annual Meeting of the American-Academy-of-Neurology (AAN), PA, Philadelphia, 04 May 2019 - 10 May 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000475965900302&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2019, '009 Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels', in Journal of Neurology, Neurosurgery & Psychiatry, BMJ, Vol. 90, pp. A4.1 - A4, http://dx.doi.org/10.1136/jnnp-2019-anzan.9
,2016, 'Subclinical peripheral neuropathy prior to chemotherapy in colorectal cancer patients – Myth or reality?', in Subclinical peripheral neuropathy prior to chemotherapy in colorectal cancer patients – Myth or reality?, Elsevier, Vol. 127, pp. e13, presented at ANZAN Biennial Clinical Neurophysiology Workshop, http://dx.doi.org/10.1016/j.clinph.2015.11.029
,2015, 'The Impact Of Nutrition On Respiratory Function In Duchenne Muscular Dystrophy', in The Impact Of Nutrition On Respiratory Function In Duchenne Muscular Dystrophy, presented at Australian Thoracic Society ASM
,Media
2017, What prospective parents need to know about gene tests such as ‘prepair’, , https://theconversation.com/what-prospective-parents-need-to-know-about-gene-tests-such-as-prepair-87083
,Preprints
2024, Genetic newborn screening stakeholder perspectives, , http://dx.doi.org/10.1101/2024.02.11.24302654
,2023, ‘The psychosocial impact of childhood dementia on children and their parents: A systematic review’, , http://dx.doi.org/10.21203/rs.3.rs-2282768/v1
,“The Usual Challenges of Work are All Magnified”: Australian Paediatric Health Professionals’ Experiences During the COVID-19 Pandemic, , http://dx.doi.org/10.2139/ssrn.4220687
,<i>'We Needed This'</i>: Perspectives of Parents and Healthcare Professionals Involved in a Pilot Newborn Screening Program for Spinal Muscular Atrophy, , http://dx.doi.org/10.2139/ssrn.3682109
,Integrating a Pilot Newborn Screening for Spinal Muscular Atrophy Into the Australian Public Healthcare System, , http://dx.doi.org/10.2139/ssrn.3814778
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