Select Publications
Journal articles
2024, 'Genome sequencing reanalysis increases the diagnostic yield in dystonia', Parkinsonism and Related Disorders, 124, http://dx.doi.org/10.1016/j.parkreldis.2024.107010
,2024, 'Magnetic Resonance–Guided Focused Ultrasound for Treatment of Essential Tremor: Ventral Intermediate Nucleus Ablation Alone or Additional Posterior Subthalamic Area Lesioning?', Movement Disorders Clinical Practice, 11, pp. 504 - 514, http://dx.doi.org/10.1002/mdc3.14005
,2024, 'Reply to: Recurrence of Parkinson's Disease Tremor after Focused Ultrasound Thalamotomy?', Movement Disorders, 39, pp. 759 - 760, http://dx.doi.org/10.1002/mds.29756
,2024, 'Consistency is key: influence of skull density ratio distribution on the formation of clinically effective lesions and long-term tremor suppression following treatment with MR-guided focused ultrasound', Journal of Neurosurgery, 140, pp. 648 - 656, http://dx.doi.org/10.3171/2023.6.JNS231153
,2024, 'Reply to: “Focused Ultrasound Thalamotomy in Dystonic Tremor—Favourable Outcomes with VIM Lesioning Alone”', Movement Disorders, 39, pp. 453 - 454, http://dx.doi.org/10.1002/mds.29711
,2024, 'Outcomes of Focused Ultrasound Thalamotomy in Tremor Syndromes', Movement Disorders, 39, pp. 173 - 182, http://dx.doi.org/10.1002/mds.29658
,2023, 'Informing a value care model: lessons from an integrated adult neurogenomics clinic', Internal Medicine Journal, 53, pp. 2198 - 2207, http://dx.doi.org/10.1111/imj.16103
,2023, 'Evaluation of the efficacy and safety of MRI-guided focused ultrasound (MRgFUS) for focal hand dystonia: study protocol for an open-label non-randomised clinical trial', BMJ Neurology Open, 5, http://dx.doi.org/10.1136/bmjno-2023-000522
,2023, 'Effects of STN/SNr deep brain stimulation in a case of progressive supranuclear palsy with a Parkinson disease phenotype', Journal of Neuropathology and Experimental Neurology, 82, pp. 821 - 823, http://dx.doi.org/10.1093/jnen/nlad052
,2023, 'Erratum: An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (The American Journal of Human Genetics (2023) 110(1) (105–119), (S0002929722005067), (10.1016/j.ajhg.2022.11.015))', American Journal of Human Genetics, 110, pp. 1018, http://dx.doi.org/10.1016/j.ajhg.2023.05.005
,2023, 'Effective Subthalamic Nucleus Deep Brain Stimulation Following MRgFUS for Tremor Dominant Parkinson's Disease', Movement Disorders Clinical Practice, 10, pp. 486 - 492, http://dx.doi.org/10.1002/mdc3.13662
,2023, 'An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14', American Journal of Human Genetics, 110, pp. 105 - 119, http://dx.doi.org/10.1016/j.ajhg.2022.11.015
,2023, 'Cerebellar Cortex Stimulation for Acquired Dystonia: A Case Report and Review of Its Role in Modern Surgical Practice', Stereotactic and Functional Neurosurgery, 100, pp. 321 - 330, http://dx.doi.org/10.1159/000526072
,2023, 'Tremor supression following treatment with MRgFUS: skull density ratio consistency and degree of posterior dentatorubrothalamic tract lesioning predicts long-term clinical outcomes in essential tremor', Frontiers in Neurology, 14, http://dx.doi.org/10.3389/fneur.2023.1129430
,2023, 'Wilson Disease: A Case Report of Psychosis Preceding Parkinsonism', American Journal of Case Reports, 24, http://dx.doi.org/10.12659/AJCR.940561
,2022, 'Deep brain stimulation in dystonia: Factors contributing to variability in outcome in short and long term follow-up', Current Opinion in Neurology, 35, pp. 510 - 517, http://dx.doi.org/10.1097/WCO.0000000000001072
,2022, 'A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing', Molecular Genetics and Genomic Medicine, 10, http://dx.doi.org/10.1002/mgg3.1923
,2022, 'The effect of GLP-1 receptor agonists in pre-clinical rodent models of Parkinson's disease: A systematic review and meta-analysis', Clinical Parkinsonism and Related Disorders, 6, http://dx.doi.org/10.1016/j.prdoa.2022.100133
,2021, 'Sodium selenate as a disease-modifying treatment for progressive supranuclear palsy: Protocol for a phase 2, randomised, double-blind, placebo-controlled trial', BMJ Open, 11, http://dx.doi.org/10.1136/bmjopen-2021-055019
,2021, 'Predictors of thermal response and lesion size in patients undergoing magnetic resonance-guided focused ultrasound thalamotomy', Journal of Clinical Neuroscience, 91, pp. 75 - 79, http://dx.doi.org/10.1016/j.jocn.2021.06.019
,2021, 'Habituation After Deep Brain Stimulation in Tremor Syndromes: Prevalence, Risk Factors and Long-Term Outcomes', Frontiers in Neurology, 12, http://dx.doi.org/10.3389/fneur.2021.696950
,2021, 'Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome', Frontiers in Neurology, 11, http://dx.doi.org/10.3389/fneur.2020.630391
,2020, 'A blinded, controlled trial of objective measurement in Parkinson’s disease', npj Parkinson's Disease, 6, http://dx.doi.org/10.1038/s41531-020-00136-9
,2020, 'Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities', Annals of Neurology, 88, pp. 867 - 877, http://dx.doi.org/10.1002/ana.25879
,2020, 'RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome', Brain, 143, pp. 82, http://dx.doi.org/10.1093/brain/awaa244
,2020, 'Neurophysiological insights in dystonia and its response to deep brain stimulation treatment', Experimental Brain Research, 238, pp. 1645 - 1657, http://dx.doi.org/10.1007/s00221-020-05833-8
,2020, 'Pathophysiology of gait disorders induced by bilateral globus pallidus interna stimulation in dystonia', Brain, 143, pp. E3, http://dx.doi.org/10.1093/brain/awz356
,2019, 'Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes', Parkinsonism and Related Disorders, 69, pp. 111 - 118, http://dx.doi.org/10.1016/j.parkreldis.2019.11.004
,2019, 'CSF1R Mutation-negative Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP): Genotypic Heterogeneity in an Important Cause of Early-onset Dementia (P2.1-024)', Neurology, 92, http://dx.doi.org/10.1212/wnl.92.15_supplement.p2.1-024
,2019, 'Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment', Movement Disorders, 34, pp. 87 - 94, http://dx.doi.org/10.1002/mds.27474
,2018, 'Vestibular symptoms as the presenting feature of progressive supranuclear palsy', Journal of Clinical Neuroscience, 50, pp. 74 - 76, http://dx.doi.org/10.1016/j.jocn.2018.01.021
,2018, 'Can clinical neurophysiology assist in patient selection for DBS in pediatric dystonia?', Clinical Neurophysiology, 129, pp. 460 - 461, http://dx.doi.org/10.1016/j.clinph.2017.12.009
,2018, 'Recent advances in understanding and managing dystonia.', F1000Research, 7, pp. f1000 faculty rev-1124, http://dx.doi.org/10.12688/f1000research.13823.1
,2017, 'Relationship Between Laryngeal Electromyography and Video Laryngostroboscopy in Vocal Fold Paralysis', Journal of Voice, 31, pp. 638 - 642, http://dx.doi.org/10.1016/j.jvoice.2017.02.003
,2017, 'Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: Report of two cases', Croatian Medical Journal, 58, pp. 310 - 315, http://dx.doi.org/10.3325/cmj.2017.58.310
,2017, 'Vocal fold paresis- A debilitating and underdiagnosed condition', Journal of Laryngology and Otology, 131, pp. S48 - S52, http://dx.doi.org/10.1017/S0022215117000810
,2017, 'Mild parkinsonian features in dystonia: Literature review, mechanisms and clinical perspectives', Parkinsonism and Related Disorders, 35, pp. 1 - 7, http://dx.doi.org/10.1016/j.parkreldis.2016.10.022
,2016, 'Heat Stroke from Prolonged Sauna Producing Bilateral Thalamic and Brainstem Hyperintensities on Diffusion-Weighted MRI (P4.400)', Neurology, 86, http://dx.doi.org/10.1212/wnl.86.16_supplement.p4.400
,2015, 'Myasthenia gravis exacerbation with low dose ocular botulinum toxin for epiphoria', Journal of Clinical Neuroscience, 22, pp. 1979 - 1981, http://dx.doi.org/10.1016/j.jocn.2015.05.032
,2015, 'Hospitalisation and comorbidities in Parkinson's disease: a large Australian retrospective study', Journal of Neurology, Neurosurgery & Psychiatry, 86, pp. 324 - 330, http://dx.doi.org/10.1136/jnnp-2014-307822
,2014, 'Botulinum toxin A in functional popliteal entrapment syndrome: a new approach to a difficult diagnosis', Journal of Neural Transmission, 121, pp. 1297 - 1301, http://dx.doi.org/10.1007/s00702-014-1197-z
,2014, 'Pallidal stimulation for primary generalised dystonia: effect on cognition, mood and quality of life', Journal of Neurology, 261, pp. 164 - 173, http://dx.doi.org/10.1007/s00415-013-7161-2
,2014, 'The clinical spectrum of laryngeal dystonia includes dystonic cough: Observations of a large series', Movement Disorders, 29, pp. 729 - 735, http://dx.doi.org/10.1002/mds.25865
,2014, 'The latest evidence on target selection in deep brain stimulation for Parkinson’s disease', Journal of Clinical Neuroscience, 21, pp. 22 - 27, http://dx.doi.org/10.1016/j.jocn.2013.05.011
,2012, '16. My approach to DBS', Clinical Neurophysiology, 123, pp. e74 - e74, http://dx.doi.org/10.1016/j.clinph.2011.11.025
,2012, 'FOSMN Syndrom : novel insight into diease pathophysiology', Neurology, 79, pp. 73 - 79
,2011, 'Patients' perceptions of life shift after deep brain stimulation for primary dystonia-A qualitative study', Movement Disorders, 26, pp. 2101 - 2106, http://dx.doi.org/10.1002/mds.23796
,2011, 'Deep brain stimulation effects in dystonia: Time course of electrophysiological changes in early treatment', Movement Disorders, 26, pp. 1913 - 1921, http://dx.doi.org/10.1002/mds.23731
,2011, 'Fluctuating gustatory disturbance and ophthalmodynia heralding the onset of a paramedian pontine infarction.', Journal of Clinical Neuroscience, 18, pp. 983 - 985
,2010, 'HIV, HAART, and parkinson's disease: Co-incidence or pathogenetic link?', Movement Disorders, 25, pp. 2257 - 2258, http://dx.doi.org/10.1002/mds.23277
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