Select Publications
Journal articles
2017, 'Neurophysiological and clinical outcomes in chemotherapy-induced neuropathy in cancer', Clinical Neurophysiology, 128, pp. 1166 - 1175, http://dx.doi.org/10.1016/j.clinph.2017.04.009
,2017, 'Burning pain: Axonal dysfunction in erythromelalgia', Pain, 158, pp. 900 - 911, http://dx.doi.org/10.1097/j.pain.0000000000000856
,2017, 'Counting the uncounted costs of Spinal muscular atrophy (P4.120)', Neurology, 88, http://dx.doi.org/10.1212/wnl.88.16_supplement.p4.120
,2017, 'Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1', Sleep Medicine, 32, pp. 92 - 96, http://dx.doi.org/10.1016/j.sleep.2016.12.005
,2017, 'Emerging therapies and challenges in spinal muscular atrophy', Annals of Neurology, 81, pp. 355 - 368, http://dx.doi.org/10.1002/ana.24864
,2017, 'Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy', Neural Plasticity, 2017, pp. 6509493, http://dx.doi.org/10.1155/2017/6509493
,2017, 'Infants and children with SMA treated with nusinersen in clinical trials: an integrated safety analysis', Neuromuscular Disorders, 27, pp. S210 - S210, http://dx.doi.org/10.1016/j.nmd.2017.06.419
,2017, 'Nusinersen demonstrates greater efficacy in infants with shorter disease duration: End of study results from the ENDEAR study in infants with spinal muscular atrophy (SMA)', Neuromuscular Disorders, 27, pp. S211 - S211, http://dx.doi.org/10.1016/j.nmd.2017.06.421
,2016, 'Quality of life and excessive daytime sleepiness in children and adolescents with Myotonic dystrophy type 1', Sleep Medicine, 32, pp. 92 - 96, http://dx.doi.org/10.1016/j.sleep.2016.12.005
,2016, 'Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing', Journal of Neurology, Neurosurgery and Psychiatry, 87, pp. 1384 - 1385, http://dx.doi.org/10.1136/jnnp-2016-313812
,2016, 'Glial mitochondropathy in infantile neuroaxonal dystrophy: Pathophysiological and therapeutic implications', Brain, 139, pp. e67, http://dx.doi.org/10.1093/brain/aww174
,2016, 'Motor cortical dysfunction develops in spinocerebellar ataxia type 3', Clinical Neurophysiology, 127, pp. 3418 - 3424, http://dx.doi.org/10.1016/j.clinph.2016.09.005
,2016, 'Pediatric chemotherapy induced peripheral neuropathy: A systematic review of current knowledge', Cancer Treatment Reviews, 50, pp. 118 - 128, http://dx.doi.org/10.1016/j.ctrv.2016.09.005
,2016, 'Polyarticular arthritis and spinal muscular atrophy in acid ceramidase deficiency', Pediatrics, 138, pp. e20161068, http://dx.doi.org/10.1542/peds.2016-1068
,2016, 'The relationship of body habitus and respiratory function in Duchenne muscular dystrophy', Respiratory Medicine, 119, pp. 35 - 40, http://dx.doi.org/10.1016/j.rmed.2016.08.018
,2016, 'Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease', Mitochondrion, 30, pp. 162 - 167, http://dx.doi.org/10.1016/j.mito.2016.07.014
,2016, 'Fracture in Duchenne Muscular Dystrophy: Natural History and Vitamin D Deficiency', Journal of Child Neurology, 31, pp. 1181 - 1187, http://dx.doi.org/10.1177/0883073816650034
,2016, 'Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3', PLoS Genetics, 12, pp. e1006177, http://dx.doi.org/10.1371/journal.pgen.1006177
,2016, 'Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia', Neurology, 87, pp. 65 - 70, http://dx.doi.org/10.1212/WNL.0000000000002813
,2016, 'Clinical characteristics and functional motor outcomes of enterovirus 71 neurological disease in children', JAMA Neurology, 73, pp. 300 - 307, http://dx.doi.org/10.1001/jamaneurol.2015.4388
,2016, 'Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter', Clinical Neurophysiology, 127, pp. 911 - 918, http://dx.doi.org/10.1016/j.clinph.2015.05.012
,2016, '3. Cortical dysfunction in Machado–Jospeh disease', Clinical Neurophysiology, 127, pp. e11 - e11, http://dx.doi.org/10.1016/j.clinph.2015.11.023
,2015, 'Enterovirus 71 Neuroimaging: “The New Polio of the 21st Century”', Pediatrics & Therapeutics, 05, http://dx.doi.org/10.4172/2161-0665.1000i111
,2015, 'Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.', World J Clin Pediatr, 4, pp. 66 - 80, http://dx.doi.org/10.5409/wjcp.v4.i4.66
,2015, 'The Genetics of Spinal Muscular Atrophy: Progress and Challenges', Neurotherapeutics, 12, pp. 290 - 302, http://dx.doi.org/10.1007/s13311-014-0314-x
,2015, 'Bone Health in Children with Duchenne Muscular Dystrophy: A Review', Pediatrics & Therapeutics, 05, http://dx.doi.org/10.4172/2161-0665.1000252
,2014, 'Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort', NEUROMUSCULAR DISORDERS, 24, pp. 882 - 883, http://dx.doi.org/10.1016/j.nmd.2014.06.295
,2014, 'Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies', Muscle and Nerve, 49, pp. 858 - 865, http://dx.doi.org/10.1002/mus.24085
,2014, '22.', Journal of Clinical Neuroscience, 21, pp. 2040 - 2040, http://dx.doi.org/10.1016/j.jocn.2014.06.036
,2013, 'Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy', American Journal of Human Genetics, 93, pp. 1108 - 1117, http://dx.doi.org/10.1016/j.ajhg.2013.10.020
,2013, 'No gain - No pain?', Journal of Neurology, Neurosurgery and Psychiatry, 84, pp. 364, http://dx.doi.org/10.1136/jnnp-2012-304098
,2013, 'Evolution of peripheral nerve function in humans: Novel insights from motor nerve excitability', The Journal of Physiology, 591, pp. 273 - 286, http://dx.doi.org/10.1113/jphysiol.2012.240820
,2013, 'Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy.', Journal of Pediatrics, 162, pp. 155 - 159, http://dx.doi.org/10.1016/j.jpeds.2012.05.067
,2012, 'Corticomotoneuronal Integrity and Adaption in Spinal Muscular Atrophy', Archives of Neurology, 69, pp. 467 - 473, http://dx.doi.org/10.1001/archneurol.2011.1697
,2012, 'Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia', Journal of Inherited Metabolic Disease, 35, pp. 1119 - 1128, http://dx.doi.org/10.1007/s10545-012-9461-6
,2011, 'Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy', Brain, 134, pp. 3185 - 3197, http://dx.doi.org/10.1093/brain/awr229
,2010, '36. Mechanisms of neurodegeneration in spinal muscular atrophy', Journal of Clinical Neuroscience, 17, pp. 1621 - 1621, http://dx.doi.org/10.1016/j.jocn.2010.07.037
,2010, '6. Axonal energy failure during a stroke-like episode in MELAS', Clinical Neurophysiology, 121, pp. e2 - e2, http://dx.doi.org/10.1016/j.clinph.2009.10.026
,2010, 'Acute, reversible axonal energy failure during stroke-like episodes in MELAS', Pediatrics, 126, pp. e734 - e739
,2009, 'Spinal muscular atrophy: Molecular mechanisms', Current Molecular Medicine, 9, pp. 851 - 862, http://dx.doi.org/10.2174/156652409789105516
,2009, 'Teaching paediatric epilepsy to medical students: A randomised crossover trial', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 45, pp. 727 - 730
,2008, 'A teenager with mononeuritis multiplex: A case report and review of the literature', Clinical Neurophysiology, 119, pp. e22 - e23, http://dx.doi.org/10.1016/j.clinph.2007.10.046
,2008, 'Teaching doctors how to diagnose paroxysmal events: a comparison of two educational methods', Medical Education, 42, pp. 909 - 914
,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
,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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000729283604038&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000729283604111&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,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
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