Select Publications
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', in Poster Abstracts, BMJ Publishing Group Ltd, pp. A5.3 - A5, presented at ANZAN Annual Scientific Meeting 2024 Abstracts, http://dx.doi.org/10.1136/bmjno-2024-anzan.13
, 2022, '2240 The Australian Neuromuscular Disease Registry (ANMDR) – what is it and why now?', in Abstracts, BMJ Publishing Group Ltd, pp. A22.1 - A22, presented at ANZAN Annual Scientific Meeting 2022 Abstracts, http://dx.doi.org/10.1136/bmjno-2022-anzan.55
, 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, 'Onasemnogene Abeparvovec-xioi Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, ELECTR NETWORK, pp. 165 - 166, 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:000534616800245&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 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 Annual Meeting of the American-Academy-of-Neurology, CANADA, Toronto, 25 April 2020 - 01 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000536058003083&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 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 Annual Meeting of the American-Academy-of-Neurology, CANADA, Toronto, 25 April 2020 - 01 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000536058003099&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 JOURNAL OF THE NEUROLOGICAL SCIENCES, ELSEVIER, U ARAB EMIRATES, Emirates Neurol Soc, Dubai, presented at World Congress of Neurology (WCN), U ARAB EMIRATES, Emirates Neurol Soc, Dubai, 27 October 2019 - 31 October 2019, http://dx.doi.org/10.1016/j.jns.2019.10.1272
, 2019, 'Onasemnogene Abeparvovec Gene-Replacement Therapy (GRT) in Pre-symptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update', in Neuropediatrics, Georg Thieme Verlag KG, presented at Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics, 11 September 2019 - 14 September 2019, http://dx.doi.org/10.1055/s-0039-1698169
, 2019, 'AVXS-101 gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): study update', presented at Australian and New Zealand Association of Neurologist
, 2019, 'Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels', Sydney, presented at Australia and New Zealand Association of Neurologists, Sydney
, 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 Australian and New Zealand Association of Neurologists, Sydney Australia
, 2018, 'Nusinersen and sleep in children with spinal muscular atrophy', in JOURNAL OF SLEEP RESEARCH, WILEY, AUSTRALIA, Brisbane, presented at 30th Annual Scientific Meeting (ASM) of Australasian-Sleep-Association and the Australasian-Sleep-Technologists-Association (Sleep DownUnder), AUSTRALIA, Brisbane, 17 October 2018 - 20 October 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000446452100150&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2018, 'Development and validation of the CMT infant scale', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY, MD, Baltimore, pp. 322 - 323, presented at Annual Meeting of the Peripheral-Nerve-Society, MD, Baltimore, 21 July 2018 - 25 July 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000452787700184&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2017, 'Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, FRANCE, Saint Malo, pp. S237 - S238, presented at 22nd International Annual Congress of the World-Muscle-Society (WMS), FRANCE, Saint Malo, 03 October 2017 - 07 October 2017, http://dx.doi.org/10.1016/j.nmd.2017.06.513
, 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 Peripheral-Nerve-Society Meeting, SPAIN, Sitges, 08 July 2017 - 12 July 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000409243500278&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2017, 'LONG TERM OUTCOMES AND RISK FACTORS FOR CHEMOTHERAPY INDUCED PERIPHERAL NEUROPATHY IN CHILDHOOD CANCER SURVIVORS', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS
, 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