Select Publications
Journal articles
, 2020, 'Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene', Cell Reports, 33, http://dx.doi.org/10.1016/j.celrep.2020.108456
, 2020, 'Spinal muscular atrophy — the dawning of a new era', Nature Reviews Neurology, 16, pp. 593 - 594, http://dx.doi.org/10.1038/s41582-020-00410-7
, 2020, 'Treating adults with spinal muscular atrophy with nusinersen', Journal of Neurology Neurosurgery and Psychiatry, 91, pp. 1139, http://dx.doi.org/10.1136/jnnp-2020-324036
, 2020, 'Next-generation sequencing of 35 RHD variants in 16 253 serologically D- pregnant women in the Finnish population', BLOOD ADVANCES, 4, pp. 4994 - 5001, http://dx.doi.org/10.1182/bloodadvances.2020001569
, 2020, 'Untwist the twist: instant hemodynamic improvement in known HeartMate 3 complication', JOURNAL OF ARTIFICIAL ORGANS, 24, pp. 365 - 367, http://dx.doi.org/10.1007/s10047-020-01220-w
, 2020, 'Amyotrophic lateral sclerosis: A new diagnostic paradigm', Journal of Neurology Neurosurgery and Psychiatry, 91, pp. 903 - 904, http://dx.doi.org/10.1136/jnnp-2020-324006
, 2020, 'Nerve Pathology Distinguishes Focal Motor Chronic Inflammatory Demyelinating Polyradiculoneuropathy from Multifocal Motor Neuropathy', Journal of Clinical Neuromuscular Disease, 22, pp. 1 - 10, http://dx.doi.org/10.1097/CND.0000000000000279
, 2020, 'Taxane-induced peripheral neuropathy: differences in patient report and objective assessment', Supportive Care in Cancer, 28, pp. 4459 - 4466, http://dx.doi.org/10.1007/s00520-020-05299-y
, 2020, 'A proposal for new diagnostic criteria for ALS', Clinical Neurophysiology, 131, pp. 1975 - 1978, http://dx.doi.org/10.1016/j.clinph.2020.04.005
, 2020, 'Characteristics and risk factors of bortezomib induced peripheral neuropathy: A systematic review of phase III trials', Hematological Oncology, 38, pp. 229 - 243, http://dx.doi.org/10.1002/hon.2706
, 2020, 'Consensus for experimental design in electromyography (CEDE) project: Amplitude normalization matrix', Journal of Electromyography and Kinesiology, 53, pp. 102438, http://dx.doi.org/10.1016/j.jelekin.2020.102438
, 2020, 'Electrophysiological and phenotypic profiles of taxane-induced neuropathy', Clinical Neurophysiology, 131, pp. 1979 - 1985, http://dx.doi.org/10.1016/j.clinph.2020.02.028
, 2020, 'Fatal cerebellar oedema in adult Leigh syndrome', Practical Neurology, 20, pp. 338 - 339, http://dx.doi.org/10.1136/practneurol-2019-002409
, 2020, 'Interrogating interneurone function using threshold tracking of the H reflex in healthy subjects and patients with motor neurone disease', Clinical Neurophysiology, 131, pp. 1986 - 1996, http://dx.doi.org/10.1016/j.clinph.2020.03.028
, 2020, 'Review of the revised amyotrophic lateral sclerosis diagnostic criteria', Clinical Neurophysiology, 131, pp. 1767 - 1768, http://dx.doi.org/10.1016/j.clinph.2020.05.008
, 2020, 'Subacute sensory neuronopathy and cancer: The identification of paraneoplastic syndromes', Journal of Neurology Neurosurgery and Psychiatry, 91, pp. 793 - 794, http://dx.doi.org/10.1136/jnnp-2020-323171
, 2020, 'Regional callosal integrity and bilaterality of limb weakness in amyotrophic lateral sclerosis', Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21, pp. 396 - 402, http://dx.doi.org/10.1080/21678421.2020.1733020
, 2020, 'A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin', Muscle and Nerve, 62, pp. E44 - E45, http://dx.doi.org/10.1002/mus.26882
, 2020, 'The Journal of Neurology, Neurosurgery and Psychiatry centenary milestone award 2020', Journal of Neurology Neurosurgery and Psychiatry, 91, pp. 677, http://dx.doi.org/10.1136/jnnp-2020-322976
, 2020, 'Lysophosphatidylcholine acyltransferase 2 (LPCAT2) co-localises with TLR4 and regulates macrophage inflammatory gene expression in response to LPS', SCIENTIFIC REPORTS, 10, http://dx.doi.org/10.1038/s41598-020-67000-x
, 2020, 'Phenotypic variability in ALS-FTD and effect on survival', Neurology, 94, pp. E2005 - E2013, http://dx.doi.org/10.1212/WNL.0000000000009398
, 2020, 'Cortical hyperexcitability evolves with disease progression in ALS', Annals of Clinical and Translational Neurology, 7, pp. 733 - 741, http://dx.doi.org/10.1002/acn3.51039
, 2020, 'Interneuronal networks mediate cortical inhibition and facilitation', Clinical Neurophysiology, 131, pp. 1000 - 1010, http://dx.doi.org/10.1016/j.clinph.2020.02.012
, 2020, 'Queen Square: a history of the National Hospital and its Institute of Neurology', JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 91, pp. 560 - 561, http://dx.doi.org/10.1136/jnnp-2020-322776
, 2020, 'ALS is a multistep process in South Korean, Japanese, and Australian patients', Neurology, 94, pp. E1657 - E1663, http://dx.doi.org/10.1212/WNL.0000000000009015
, 2020, 'Effects of Mexiletine on Cortical and Peripheral Nerve Hyperexcitability in Sporadic ALS (2531)', Neurology, 94, http://dx.doi.org/10.1212/wnl.94.15_supplement.2531
, 2020, 'Changes in long term peripheral nerve biophysical properties in childhood cancer survivors following neurotoxic chemotherapy', Clinical Neurophysiology, 131, pp. 783 - 790, http://dx.doi.org/10.1016/j.clinph.2019.12.411
, 2020, 'Early focality and spread of cortical dysfunction in amyotrophic lateral sclerosis: A regional study across the motor cortices', Clinical Neurophysiology, 131, pp. 958 - 966, http://dx.doi.org/10.1016/j.clinph.2019.11.057
, 2020, 'Primary lateral sclerosis: Consensus diagnostic criteria', Journal of Neurology Neurosurgery and Psychiatry, 91, pp. 373 - 377, http://dx.doi.org/10.1136/jnnp-2019-322541
, 2020, 'Respiratory function and cognitive profile in amyotrophic lateral sclerosis', European Journal of Neurology, 27, pp. 685 - 691, http://dx.doi.org/10.1111/ene.14130
, 2020, 'Health, wellbeing and lived experiences of adults with SMA: A scoping systematic review', Orphanet Journal of Rare Diseases, 15, pp. 70, http://dx.doi.org/10.1186/s13023-020-1339-3
, 2020, 'The impact of cognitive and behavioral impairment in amyotrophic lateral sclerosis', Expert Review of Neurotherapeutics, 20, pp. 281 - 293, http://dx.doi.org/10.1080/14737175.2020.1727740
, 2020, 'Expanding the availability of medications for amyotrophic lateral sclerosis in Australia', Medical Journal of Australia, 212, pp. 189 - 189.e1, http://dx.doi.org/10.5694/mja2.50482
, 2020, 'Occasional essay: Upper motor neuron syndrome in amyotrophic lateral sclerosis', Journal of Neurology Neurosurgery and Psychiatry, 91, pp. 227 - 234, http://dx.doi.org/10.1136/jnnp-2019-321938
, 2020, 'Characterising a human endogenous retrovirus(HERV)-derived tumour-associated antigen: enriched RNA-Seq analysis of HERV-K(HML-2) in mantle cell lymphoma cell lines', MOBILE DNA, 11, http://dx.doi.org/10.1186/s13100-020-0204-1
, 2020, 'Multifocal motor neuropathy: controversies and priorities', Journal of Neurology Neurosurgery and Psychiatry, 91, pp. 140 - 148, http://dx.doi.org/10.1136/jnnp-2019-321532
, 2020, 'Sonographic assessment of nerve blood flow in diabetic neuropathy', Diabetic Medicine, 37, pp. 343 - 349, http://dx.doi.org/10.1111/dme.14085
, 2020, 'Erratum: A Neuroethics Framework for the Australian Brain Initiative (Neuron (2019) 101(3) (365–369), (S0896627319300054), (10.1016/j.neuron.2019.01.004))', Neuron, 105, pp. 201, http://dx.doi.org/10.1016/j.neuron.2019.12.019
, 2020, 'ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization', Brain Communications, 2, http://dx.doi.org/10.1093/braincomms/fcaa064
, 2020, 'Jewels in the crown: A century of achievement for the Journal of Neurology, Neurosurgery & Psychiatry', Journal of Neurology Neurosurgery and Psychiatry, 91, http://dx.doi.org/10.1136/jnnp-2019-322443
, 2020, 'Massive retroperitoneal hemorrhage after external shock wave lithotripsy in a patient with a left ventricular assist device', UROLOGY CASE REPORTS, 28, http://dx.doi.org/10.1016/j.eucr.2019.101033
, 2020, 'Measurement of axonal excitability: Consensus guidelines', Clinical Neurophysiology, 131, pp. 308 - 323, http://dx.doi.org/10.1016/j.clinph.2019.07.023
, 2020, 'Neurophysiological features of primary lateral sclerosis', Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21, pp. 11 - 17, http://dx.doi.org/10.1080/21678421.2020.1837174
, 2020, 'Preface: promoting research in PLS: current knowledge and future challenges', Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21, pp. 1 - 2, http://dx.doi.org/10.1080/21678421.2020.1840795
, 2020, 'Quantification of Small Fiber Neuropathy in Chemotherapy-Treated Patients', Journal of Pain, 21, pp. 44 - 58, http://dx.doi.org/10.1016/j.jpain.2019.06.011
, 2020, '11. Neurophysiological correlates of impaired cognition in Amyotrophic Lateral Sclerosis', Clinical Neurophysiology, 131, pp. e5 - e5, http://dx.doi.org/10.1016/j.clinph.2019.11.044
, 2020, '12. EMG bursting characteristics of upper limb muscles in patients with CIDP and tremor', Clinical Neurophysiology, 131, pp. e5 - e6, http://dx.doi.org/10.1016/j.clinph.2019.11.045
, 2020, '13. Transcallosal dysfunction an early marker of ALS', Clinical Neurophysiology, 131, pp. e6 - e6, http://dx.doi.org/10.1016/j.clinph.2019.11.046
, 2020, '15. Paraproteinaemic neuropathy: The role for nerve biopsy', Clinical Neurophysiology, 131, pp. e7 - e7, http://dx.doi.org/10.1016/j.clinph.2019.11.048
, 2020, '5. Neurophysiological characteristics in the development and recovery of peripheral neuropathy in oxaliplatin and paxlitaxel treated patients', Clinical Neurophysiology, 131, pp. e2 - e3, http://dx.doi.org/10.1016/j.clinph.2019.11.038