A NSW Government website
The Concord Neurology Department participates in a range of research activities, including clinical research and clinical trial participation.
The department participates in several clinical drug trials at any point in time, predominately in the fields of multiple sclerosis, motor neurone diseases, and neuromuscular disease.
| Amount awarded | Grant and project details |
|---|---|
| $2,996,000 | MRFF, 2021-2024 Closing the gap in diagnosis of neurological disorders including ataxias and neuropathies-a trans-Australia collaboration Investigator: Vucic S |
| $1,000,000 | MRFF, 2021-2023 iPSC clinical trials -population wide screening of patient iPSC’s to re-assess high value drug targets for Motor Neuron Disease Investigator: Vucic S |
| Agarwal S, Highton-Williamson E, Caga J, Howells J, Dharmadasa T, Matamala JM, Ma Y, Shibuya K, Hodges JR, Ahmed RM, Vucic S, Kiernan MC. Motor cortical excitability predicts cognitive phenotypes in amyotrophic lateral sclerosis. Sci Rep. 2021;11 (1):2172. |
| Aggarwal A, Sinha V, Chan E, Parapuram A. An elevated C-reactive protein level in an inpatient rehabilitation setting after joint replacement: To act or not to act? - that is the question. Medicine (Baltimore). 2021 Feb 26;100(8):e24584. doi: 10.1097/MD.0000000000024584. PMID: 33663068; PMCID: PMC7909121. |
| Andersen JB, Sharmin S, Lefort M, Koch-Henriksen N, Sellebjerg F, Sørensen PS, Hilt Christensen CC, Rasmussen PV, Jensen MB, Frederiksen JL, Bramow S, Mathiesen HK, Schreiber KI, Horakova D, Havrdova EK, Alroughani R, Izquierdo G, Eichau S, Ozakbas S, Patti F, Onofrj M, Lugaresi A, Terzi M, Grammond P, Grand Maison F, Yamout B, Prat A, Girard M, Duquette P, Boz C, Trojano M, McCombe P, Slee M, Lechner-Scott J, Turkoglu R, Sola P, Ferraro D, Granella F, Shaygannejad V, Prevost J, Skibina O, Solaro C, Karabudak R, Wijmeersch BV, Csepany T, Spitaleri D, Vucic S, Casey R, Debouverie M, Edan G, Ciron J, Ruet A, Sèze JD, Maillart E, Zephir H, Labauge P, Defer G, Lebrun C, Moreau T, Berger E, Clavelou P, Pelletier J, Stankoff B, Gout O, Thouvenot E, Heinzlef O, Al-Khedr A, Bourre B, Casez O, Cabre P, Montcuquet A, Wahab A, Camdessanché JP, Marousset A, Patry I, Hankiewicz K, Pottier C, Maubeuge N, Labeyrie C, Nifle C, Leray E, Laplaud DA, Butzkueven H, Kalincik T, Vukusic S, Magyari M. The effectiveness of natalizumab vs fingolimod-A comparison of international registry studies. Mult Scler Relat Disord. 2021;53:103012 |
| Australian and New Zealand NMO Collaboration. NMOSD and MS prevalence in the Indigenous populations of Australia and New Zealand. J Neurol. 2021 Jul 2. |
| Barnes S, You Y, Shen T, Hardy TA, Fraser C, Reddel SW, Brilot F, Ramanathan S, Klistorner A, Yiannikas C. Structural and functional markers of optic nerve damage in myelin oligodendrocyte glycoprotein antibody-associated optic neuritis. Multiple Sclerosis Journal - Experimental, Translational and Clinical 2021; 7(4): 20552173211063126. |
| Barnes, SL, You, Y, Shen, T, Hardy, TA, Fraser, C, Reddel, SW, Brilot, F, Ramanathan, S, Klistorner, A, Yiannikas, C. Structural and Functional Markers of Optic Nerve Damage in Myelin Oligodendrocyte Glycoprotein Antibody Associated Optic Neuritis. Mult Scler J Exp Transl Clin. 2021 Dec 21;7(4):20552173211063126. doi: 10.1177/20552173211063126. |
| Broadley J, Wesselingh R, Seneviratne U, Kyndt C, Beech P, Buzzard K, Nesbitt C, D'Souza W, Brodtmann A, Kalincik T, Butzkueven H, O'Brien TJ, Monif M, Griffiths, S, Fielding, J, Clough, M, Tan, T, Velakoulis, D, Malpas, C, Alpitsis, R, Macdonnell, R, Tarlinton, D, Reddel, S, Hardy, T, Taylor, B, Long, B, Wijeratne, White, O, Ligtermoet, M, Tan, M, Kulkarni, J, Bourke, R, Butler, E; Australian Autoimmune Encephalitis Consortium. Peripheral Immune Cell Ratios and Clinical Outcomes in Seropositive Autoimmune Encephalitis: A Study by the Australian Autoimmune Encephalitis Consortium. Front Immunol. 2021 Jan 14;11:597858. |
| Carroll AS, Howells J, Lin CSY, Park SB, Simon N, Reilly MM, Vucic S, Kiernan MC. Differences in nerve excitability properties across upper limb sensory and motor axons. Clin Neurophysiol. 2021; 136: 138-149 |
| Chaseling GK, Filingeri D, Allen DR, Barnett M, Vucic S, Davis SL, Jay O. Blunted sweating does not alter the rise in core temperature in people with multiple sclerosis exercising in the heat. Am J Physiol Regul Integr Comp Physiol. 2021; 320(3):R258-R267. |
| Chintalaphani, S.R., Pineda, S.S., Deveson, I.W., Kumar, K.R. An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics (2021) Acta Neuropathologica Communications. May 25;9(1):98. |
| Clarke L, Arnett S, Bukhari W, Khalilidehkordi E, Jimenez Sanchez S, O'Gorman C, Sun J, Prain KM, Woodhall M, Silvestrini R, Bundell CS, Abernethy DA, Bhuta S, Blum S, Boggild M, Boundy K, Brew BJ, Brownlee W, Butzkueven H, Carroll WM, Chen C, Coulthard A, Dale RC, Das C, Fabis-Pedrini MJ, Gillis D, Hawke S, Heard R, Henderson APD, Heshmat S, Hodgkinson S, Kilpatrick TJ, King J, Kneebone C, Kornberg AJ, Lechner-Scott J, Lin MW, Lynch C, Macdonell RAL, Mason DF, McCombe PA, Pereira J, Pollard JD, Ramanathan S, Reddel SW, Shaw CP, Spies JM, Stankovich J, Sutton I, Vucic S, Walsh M, Wong RC, Yiu EM, Barnett MH, Kermode AGK, Marriott MP, Parratt JDE, Slee M, Taylor BV, Willoughby E, Brilot F, Vincent A, Waters P, Broadley SA. MRI patterns distinguish AQP4 antibody positive neuromyelitis optica spectrum disorders from multiple sclerosis. Frontiers in Neurology; 2021 Sep 9;12:722237. |
| Corcia P, Bede P, Pradat PF, Couratier P, Vucic S, de Carvalho M. Split-hand and split-limb phenomena in amyotrophic lateral sclerosis: pathophysiology, electrophysiology and clinical manifestations. J Neurol Neurosurg Psychiatry. 2021 Jul 20 |
| Dale RC, Ramanathan S. Clinical decision making in MOG antibody-associated disease. Lancet Neurology. 2021; 20(9):695-697. |
| Danish Multiple Sclerosis Registry, OFSEP and the MSBase investigators. Natalizumab Versus Fingolimod in Patients with Relapsing-Remitting Multiple Sclerosis: A Subgroup Analysis From Three International Cohorts. CNS Drugs. 2021 Sep 18 |
| De Rosa A, Balint B, Kumar KR. Editorial: Genetics of Paroxysmal Movement Disorders. Front Neurol. 2021 Sep 28;12:752000. |
| Dharmadasa T, Howells J, Matamala JM, Simon NG, Burke D, Vucic S, Kiernan MC. Cortical inexcitability defines an adverse clinical profile in amyotrophic lateral sclerosis. Eur J Neurol. 2021; 28(1):90-97. |
| Fois AF, Mahant N, Vucic S, Fung VSC. Measuring Tremor-A Comparison of Automated Video Analysis, Neurophysiology, and Clinical Rating. Mov Disord. 2021 Sep 2. |
| Foxe D, Cheung SC, Cordato NJ, Burrell JR, Ahmed RM, Taylor-Rubin C, Irish M, Piguet O. Verbal Short-Term Memory Disturbance in the Primary Progressive Aphasias: Challenges and Distinctions in a Clinical Setting. Brain Sci. 2021 Aug 12;11(8):1060. |
| Foxe D, Irish M, D'Mello M, Barhon L, Burrell JR, Kessels RPC, Piguet O. The Box Task: A novel tool to differentiate the primary progressive aphasias. Eur J Neurol. 2021 Dec;28(12):3945-3954. |
| Foxe D, Irish M, Hu A, Carrick J, Hodges JR, Ahmed RM, Burrell JR, Piguet O. Longitudinal cognitive and functional changes in primary progressive aphasia. J Neurol. 2021 May;268(5):1951-1961. |
| Foxe D, Irish M, Ramanan S, Stark S, Cordato NJ, Burrell JR, Piguet O. Longitudinal changes in behaviour, mood and functional capacity in the primary progressive aphasia variants. Eur J Neurosci. ePub, 2021 Dec 9. |
| Garcia-Montojo M, Fathi S, Norato G, Smith BR, Rowe DB, Kiernan MC, Vucic S, Mathers S, van Eijk RPA, Santamaria U, Rogers ML, Malaspina A, Lombardi V, Mehta PR, Westeneng HJ, van den Berg LH, Al-Chalabi A, Gold J, Nath A. Inhibition of HERV-K (HML-2) in amyotrophic lateral sclerosis patients on antiretroviral therapy. J Neurol Sci. 2021;423:117358. |
| Geevasinga N, Van den Bos M, Menon P, Vucic S. Utility of Transcranial Magnetic Simulation in Studying Upper Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis. Brain Sci. 2021 11:906 |
| Hannaford A, Higashihara M, Pavey N, van den Bos M, Geevasinga N, Vucic S, Menon P. Split-hand index: A diagnostic and prognostic marker in amyotrophic lateral sclerosis across varying regions of onset. Clin Neurophysiol. 2021;132(9):2130-2135 |
| Hannaford A, Pavey N, van den Bos M, Geevasinga N, Menon P, Shefner JM, Kiernan M, Vucic S. Diagnostic utility of Gold Coast criteria in ALS. Ann Neurol. 2021; 89(5):979-986. |
| Hannaford A, Vucic S, Kiernan MC, Simon NG. Review Article "Spotlight on Ultrasonography in the Diagnosis of Peripheral Nerve Disease: The Evidence to Date". Int J Gen Med. 2021 Aug 16;14:4579-4604. |
| Hardy, TA. Explainer: multiple sclerosis - past, present and future. MJA Insight+ 2021. |
| Hardy, TA. Spinal cord anatomy and localization. Continuum (Minneap Minn). 2021 Feb 1;27(1):12-29. |
| Hardy, TA. Utility of MRI Enhancement Pattern in Myelopathies With Longitudinally-Extensive T2-Lesions. Practice Update website. Available at: https://www.practiceupdate.com/content/utility-of-mri-enhancement-patte…. Accessed March 26, 2021. |
| Higashihara M, Pavey N, van den Bos M, Menon P, Kiernan MC, Vucic S. Association of Cortical Hyperexcitability and Cognitive Impairment in Patients with ALS. Neurology. 2021;96(16):e2090-e2097. |
| Hwang YT, Strikwerda-Brown C, El-Omar H, Ramanan S, Hodges JR, Burrell JR, Piguet O, Irish M. "More than words" - Longitudinal linguistic changes in the works of a writer diagnosed with semantic dementia. Neurocase. 2021 Jun;27(3):243-252. |
| Jeyakumar N, Waller S, Mahant N, Ramanathan S, Henderson APD. A case of CSF anti-MOG antibody-positive papillitis with intermediate uveitis in the setting of acute neurosyphilis. Neuroimmunology Reports. 2021; (1):100033. |
| Jia FF, Drew AP, Nicholson GA, Corbett A, Kumar KR. Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings. Neuromuscul Disord. 2021 Oct 2:S0960-8966(21)00656-8. |
| Jolliffe, E, Guo, Y, Hardy, TA, Morris, PP, Flanagan, EP, Lucchinetti, CF, Tobin, WO. Clinical and radiological features, pathology and treatment of Baló's concentric sclerosis. Neurology. 2021 May 19:10.1212/WNL.0000000000012230. doi: 10.1212/WNL.0000000000012230. Epub ahead of print. PMID: 34011576. |
| Kalincik T, Diouf I, Sharmin S, Malpas C, Spelman T, Horakova D, Havrdova EK, Trojano M, Izquierdo G, Lugaresi A, Prat A, Girard M, Duquette P, Grammond P, Jokubaitis V, van der Walt A, Grand'Maison F, Sola P, Ferraro D, Shaygannejad V, Alroughani R, Hupperts R, Terzi M, Boz C, Lechner-Scott J, Pucci E, Van Pesch V, Granella F, Bergamaschi R, Spitaleri D, Slee M, Vucic S, Ampapa R, McCombe P, Ramo-Tello C, Prevost J, Olascoaga J, Cristiano E, Barnett M, Saladino ML, Sanchez-Menoyo JL, Hodgkinson S, Rozsa C, Hughes S, Moore F, Shaw C, Butler E, Skibina O, Gray O, Kermode A, Csepany T, Singhal B, Shuey N, Piroska I, Taylor B, Simo M, Sirbu CA, Sas A, Butzkueven H; MSBase Study Group. Effect of Disease-Modifying Therapy on Disability in Relapsing-Remitting Multiple Sclerosis Over 15 Years. Neurology. 2021 Feb 2;96(5):e783-e797. |
| Keller CW, Lopez JA, Wendel EM, Ramanathan S, Gross CC, Klotz L, Reindl M, Dale RC, Wiendl H, Rostásy K, Brilot F, Lünemann JD. Complement activation is a prominent feature of MOGAD. Annals of Neurology. 2021;90(6):976-982. |
| Klistorner, A., Triplett, J. D., Barnett, M. H., Yiannikas, C., Barton, J., Parratt, J., You, Y., & Graham, S. L. Latency of multifocal visual evoked potential in multiple sclerosis: a visual pathway biomarker for clinical trials of remyelinating therapies. Journal of Clinical Neurophysiology. 2021; 38(3):186-191 |
| Korsukewitz C, Reddel SW, Bar-Or A, Wiendl H. Author Correction: Neurological immunotherapy in the era of COVID-19 - looking for consensus in the literature. Nat Rev Neurol. 2021 Apr;17(4):260. doi: 10.1038/s41582-020-0392-9. |
| Kunchok A, Lechner-Scott J, Granella F, Trojano M, Alroughani R, Sola P, Ferraro D, Lugaresi A, Onofrj M, Ozakbas S, Izquierdo G, Grammond P, Luis Sanchez-Menoyo J, Van Wijmeersch B, Boz C, Pucci E, McCombe P, Grand'Maison F, Spitaleri D, Vucic S, Hupperts R, Jokubaitis V, Sormani MP, Butzkueven H, Kalincik T; MSBase Study Group. Prediction of On-Treatment Disability Worsening in RRMS With the MAGNIMS Score. Mult Scler. 2021; 27(5):695-705. |
| Law SPL, Gatt PN, Schibeci SD, McKay FC, Vucic S, Hart P, Byrne SN, Brown D, Stewart GJ, Liddle C, Parnell GP, Booth DR. Expression of CYP24A1 and other multiple sclerosis risk genes in peripheral blood indicates response to vitamin D in homeostatic and inflammatory conditions. Genes Immun. 2021 Jun 23. |
| Le M, Malpas C, Sharmin S, Horáková D, Havrdova E, Trojano M, Izquierdo G, Eichau S, Ozakbas S, Lugaresi A, Prat A, Girard M, Duquette P, Larochelle C, Alroughani R, Bergamaschi R, Sola P, Ferraro D, Grammond P, Grand' Maison F, Terzi M, Boz C, Hupperts R, Butzkueven H, Pucci E, Granella F, Van Pesch V, Soysal A, Yamout BI, Lechner-Scott J, Spitaleri D, Ampapa R, Turkoglu R, Iuliano G, Ramo-Tello C, Sanchez-Menoyo JL, Sidhom Y, Gouider R, Shaygannejad V, Prevost J, Altintas A, Fragoso YD, McCombe PA, Petersen T, Slee M, Barnett MH, Vucic S, Van Der Walt A, Kalincik T. Disability Outcomes of Early Cerebellar and Brainstem Symptoms in Multiple Sclerosis. Mult Scler. 2021; 27(5):755-766. |
| Lee AYS, Hannaford A, Vucic S, Berglund LJ. Chronic inflammatory demyelinating polyneuropathy following commencement of dupilumab for atopic dermatitis: coincidence or contributory? Ann Allergy Asthma Immunol. 2021 Sep 1 |
| Lizak N, Hodgkinson S, Butler E, Lechner-Scott J, Slee M, McCombe PA, Shaw C, Skibina O, Vucic S, Shuey N, Barnett MH, Parratt J, Butzkueven H, Jack D, Fabris J, Kalincik T. Real-world effectiveness of cladribine for Australian patients with multiple sclerosis: An MSBase registry substudy. Mult Scler. 2021;27(3):465-474. |
| Long Z, Irish M, Foxe D, Hodges JR, Piguet O, Burrell JR. Heterogeneity of behavioural and language deficits in FTD-MND. J Neurol. 2021 Aug;268(8):2876-2889. |
| Long Z, Irish M, Hodges JR, Halliday G, Piguet O, Burrell JR. Amyotrophic lateral sclerosis features predict TDP-43 pathology in frontotemporal lobar degeneration. Neurobiol Aging. 2021 Nov;107:11-20. |
| Lopez J, Denkova M, Ramanathan S, Dale RC, Brilot F. Pathogenesis of autoimmune demyelination: from multiple sclerosis to neuromyelitis optica spectrum disorders and myelin oligodendrocyte glycoprotein antibody-associated disorder. Clinical and Translational Immunology. 2021; 10(7):e1316. |
| Luijten LWG, Leonhard SE, van der Eijk AA, Doets AY, Appeltshauser L, Arends S, Attarian S, Benedetti L, Briani C, Casasnovas C, Castellani F, Dardiotis E, Echaniz-Laguna A, Garssen MPJ, Harbo T, Huizinga R, Humm AM, Jellema K, van der Kooi AJ, Kuitwaard K, Kuntzer T, Kusunoki S, Lascano AM, Martinez-Hernandez E, Rinaldi S, Samijn JPA, Scheidegger O, Tsouni P, Vicino A, Visser LH, Walgaard C, Wang Y, Wirtz PW, Ripellino P, Jacobs BC; IGOS consortium. Guillain-Barré syndrome after SARS-CoV-2 infection in an international prospective cohort study. Brain. 2021 Dec 16;144(11):3392-3404. |
| Martin, E.M., Ying, Z., Kraan, C.M., Kumar, K.R., Rogers, C., Godler, D.E., Field, M.J. Males with FMR1 Premutation alleles of less than 71 CGG repeats have low risk of being affected with Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Journal of Medical Genetics. J Med Genet. 2021 Jul 28:jmedgenet-2021-107758. |
| Maudlin B, Gibson SB, Aggarwal A. Long Term Safety and Efficacy of Sub-Lingual Ketamine Troches / Lozenges in Chronic Non-Malignant Pain Management. Intern Med J. 2021 Jun 6. doi: 10.1111/imj.15404. Epub ahead of print. PMID: 34092024. |
| Menon P, Vucic S. The Upper Motor Neuron-Improved Knowledge from ALS and Related Clinical Disorders. Brain Sci. 2021;11(8):958. |
| Michael D Weiss, Eric A Macklin, Courtney E McIlduff , Steve Vucic, Brian J Wainger, Matthew C Kiernan, Stephen A Goutman, Namita A Goyal, Seward B Rutkove , Shafeeq S Ladha , I-Hweii Amy Chen , Matthew B Harms , Thomas H Brannagan, David Lacomis, Sasha Zivkovic , Maxwell Ma , Leo H Wang , Zachary Simmons , Michael H Rivner , Jeremy M Shefner , Merit E Cudkowicz , Nazem Atassi , Mexiletine-2 ALS Study Group. Effects of Mexiletine on Hyperexcitability in Sporadic ALS: Preliminary Findings from A Small Phase II Randomized Controlled Trial. Muscle Nerve. 2021; 63(3):371-383. |
| Narayanan RK, Brewer MH, Perez-Siles G, Ellis M, Ly C, Burgess A, Neumann B, Nicholson GA, Vucic S, Kennerson ML. Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model. Hum Mol Genet. 2021 Aug 13 |
| Nesbitt C, Rath L, Zhong M, Cheng AC, Butzkueven H, Wesselingh R, Skibina O, Monif M, Yeh W, Brotherton JM, Reddel S, Van Der Walt A. Vaccinations in patients with multiple sclerosis: review and recommendations. Med J Aust. 2021 May;214(8):350-354.e1. |
| Nicolau S, Milone M, Tracy JA, Mills JR, Triplett JD, Liewluck T. Immune-mediated necrotizing myopathy: Unusual presentations of a treatable disease. Muscle Nerve. 2021 Dec;64(6):734-739. doi: 10.1002/mus.27435. Epub 2021 Oct 15. |
| Pavey N, Higashihara M, van den Bos MAJ, Menon P, Vucic S. The split-elbow index: A biomarker of the split elbow sign in ALS. Clin Neurophysiol Pract. 2021 Dec 9;7:16-20. |
| Phua CS, Kumar KR, Levy S. Reply to: Neurometabolic causes of dystonia: Sepiapterin reductase-deficient dopamine- and serotonin-responsive dystonia-plus syndrome (2021) Journal of Neurological Sciences. Jun 15;425:117469. |
| Prasuhn J., Davis R.L., Kumar K.R. Targeting Mitochondrial Impairment in Parkinson's Disease: Challenges and Opportunities (2021) Frontiers in Cell and Developmental Biology, Jan 5;8:615461. |
| Qiu J, Kumar RK, Watson E, Ahmad K, Sue CM, Hayes MW. Dystonia responsive to dopamine: POLG mutations should be considered if sensory neuropathy is present. J Mov Disord 2021;14(2),1-3 |
| Ramanathan S, Tseng M, Davies A, Uy C, Paneva S, Mgbachi V, Michael S, Varley J, Binks S, Themistocleous A, Fehmi J, Anziska Y, Soni A, Hofer M, Waters P, Brilot F, Dale RC, Dawes J, Rinaldi S, Bennett D, Irani SR. LGI- versus CASPR2-antibody neuropathic pain: clinical and biological comparisons. Annals of Neurology, 2021; 90(4):683-390. |
| Rinaldi S, Davies A, Fehmi J, Beadnall HN, Wang J, Hardy TA, Barnett MH, Broadley SA, Waters P, Reddel SW, Irani SR, Brilot F, Dale RC, Ramanathan S. Overlapping central and peripheral nervous system syndromes in MOG antibody-associated disorders.; Australian and New Zealand MOG Study Group. Neurol Neuroimmunol Neuroinflamm. 2020 Dec 3;8(1):e924. |
| Sanchez, P, Chan, F, Hardy, TA. Tumefactive demyelination: updated perspectives on diagnosis and management. Expert Rev Neurother. 2021. Aug 31:1-13. |
| Saputra, L. Kumar, K.R. Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia (2021) Current Neurology and Neuroscience Reports, Feb 28;21(4):15. |
| Say MJ, Spring PJ, Hardy TA. Longitudinal improvement in neuropsychological profile following treatment of severe encephalopathy in Susac syndrome. Neuroimmunology Reports 1 (2021) 100017 |
| Say, MJ, Spring, PJ, Hardy, TA. Longitudinal improvement in neuropsychological profile following treatment of severe encephalopathy in Susac syndrome. Neuroimmunology Reports. 2021. Dec 1: 100017. |
| Shefner JM, Andrews JA, Genge A, Jackson C, Lechtzin N, Miller TM, Cockroft BM, Meng L, Wei J, Wolff AA, Malik FI, Bodkin C, .Brooks BR, Caress J, Dionne A, Fee D, Goutman SA, Goyal NA, Hardiman O, Hayat G, Heiman-Patterson T, Heitzman D, Henderson RD, Johnston W, Karam C, Kiernan MC, Kolb SJ, Korngut L, Ladha S, Matte G, Mora JS, Needham M, Oskarsson B, Pattee GL, Pioro EP, Pulley M, Quan D, Rezania K, Schellenberg KL, Schultz D, Shoesmith C, Simmons Z, Statland J, Sultan S, Swenson A, Berg LHVD, Vu T, Vucic S, Weiss M, Whyte-Rayson A, Wymer J, Zinman L, Rudnicki SA. A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2021; 22(3-4):287-299. |
| Silsby M, Varikatt W, Vucic S, Menon P. New onset headache caused by histiocytic sarcoma of the spinal cord and leptomeninges: a case report. BMJ Neurol Open. 2021;3:e000147 |
| Silsby M, Yiannikas C, Ng K, Kiernan MC, Fung VSC, Vucic S. Posturography as a Marker of intravenous immunoglobulin Efficacy in CIDP. Muscle Nerve. 2021 Aug 12 |
| Sommer C, Carroll AS, Koike H, Katsuno M, Ort N, Sobue G, Vucic S, Spies JM, Doppler K, Kiernan MC. Nerve biopsy in acquired neuropathies. J Peripher Nerv Syst. 2021 Sep 14 |
| Suzuki YI, Ma Y, Shibuya K, Misawa S, Suichi T, Tsuneyama A, Nakamura K, Matamala JM, Dharmadasa T, Vucic S, Fan D, Kiernan MC, Kuwabara S. Effect of racial background on motor cortical function as measured by threshold tracking transcranial magnetic stimulation. J Neurophysiol. 2021 Aug 18 |
| Tisch S., Kumar K.R. Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome (2021) Frontiers in Neurology, Jan 8;11:630391. |
| Triplett JD, Laughlin RS. Amyloid neuro-myopathy- American Clinical Neurophysiology Society featured case. News. 2021; 13(2):9 |
| Triplett JD, Simpson HD, Clemmons RS, Cascino GD, The effect of weight reduction surgery on antiseizure drug levels and seizure frequency. Epilepsy and Behaviour. 2021 Sep 29;124:108307. doi: 10.1016/j.yebeh.2021.108307. |
| Turner-Stokes L, Jacinto J, Fheodoroff K, Brashear A, Maisonobe P, Lysandropoulos A, Ashford S; Upper Limb International Spasticity-III (ULIS-III) study group. Assessing the effectiveness of upper-limb spasticity management using a structured approach to goal-setting and outcome measurement: First cycle results from the ULIS-III Study. J Rehabil Med. 2021 Jan 1;53(1):jrm00133. doi: 10.2340/16501977-2770. PMID: 33206198; PMCID: PMC8772374. |
| van den Bos MAJ, Higashihara M, Geevasinga N, Menon P, Kiernan MC, Vucic S. Pathophysiological associations of transcallosal dysfunction in ALS. Eur J Neurol. 2021; 28(4):1172-1180. |
| Verboon C, Harbo T, Cornblath DR, Hughes RAC, van Doorn PA, Lunn MP, Gorson KC, Barroso F, Kuwabara S, Galassi G, Lehmann HC, Kusunoki S, Reisin RC, Binda D, Cavaletti G, Jacobs BC; IGOS consortium; GOS consortium. Intravenous immunoglobulin treatment for mild Guillain-Barré syndrome: an international observational study. J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1080-1088. doi: 10.1136/jnnp-2020-325815. |
| Vucic S, Ferguson TA, Cummings C, Hotchkin MT, Genge A, Glanzman R, Roet KCD, Cudkowicz M, Kiernan MC. Gold Coast diagnostic criteria: Implications for ALS diagnosis and clinical trial enrollment. Muscle Nerve. 2021 Aug 11 |
| Vucic S, Henderson RD, Mathers S, Needham M, Schultz D, Kiernan MC; TEALS study group. Safety and efficacy of dimethyl fumarate in ALS: randomised controlled study. Ann Clin Transl Neurol. 2021 Sep 3 |
| Vucic S, Kiernan MC, Menon P, Huynh W, Rynders A, Ho KS, Glanzman R, Hotchkin MT. Study protocol of RESCUE-ALS: A Phase 2, randomised, double-blind, placebo-controlled study in early symptomatic amyotrophic lateral sclerosis patients to assess bioenergetic catalysis with CNM-Au8 as a mechanism to slow disease progression. BMJ Open. 2021 Jan 11;11(1):e041479. |
| Vucic S, Pavey N, Haidar M, Turner BJ, Kiernan MC. Cortical hyperexcitability: Diagnostic and pathogenic biomarker of ALS. Neurosci Lett. 2021 Jun 9:136039 |
| Vucic S, Wray N, Henders A, Henderson RD, Talman P, Mathers S, Bellgard M, Aoun S, Birks C, Thomas G, Hansen C, Thomas G, Hogden A, Needham M, Schultz D, Soulis T, Sheean B, Milne J, Rowe D, Zoing M, Kiernan MC. MiNDAUS partnership: a roadmap for the cure and management of motor Neurone disease. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Sep 30;1-8. |
| Vucic S. Advances in the understanding of sensory neuronopathies. J Neurol Neurosurg Psychiatry. 2021 Feb 9:jnnp-2020-325999. |
| Vucic S. P300 jitter latency, brain-computer interface and amyotrophic lateral sclerosis. Clin Neurophysiol. 2020 De2021 Feb;132(2):614-615. |
| Wainger BJ, Macklin EA, Vucic S, McIlduff CE, Paganoni S, Maragakis NJ, Bedlack R, Goyal NA, Rutkove SB, Lange DJ, Rivner MH, Goutman SA, Ladha SS, Mauricio EA, Baloh RH, Simmons Z, Pothier L, Kassis SB, La T, Hall M, Evora A, Klements D, Hurtado A, Pereira JD, Koh J, Celnik PA, Chaudhry V, Gable K, Juel VC, Phielipp N, Marei A, Rosenquist P, Meehan S, Oskarsson B, Lewis RA, Kaur D, Kiskinis E, Woolf CJ, Eggan K, Weiss MD, Berry JD, David WS, Davila-Perez P, Camprodon JA, Pascual-Leone A, Kiernan MC, Shefner JM, Atassi N, Cudkowicz ME. Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial. JAMA Neurol. 2021; 78(2):186-196. |
| Wang C, Barton J, Kyle K, Ly L, Barnett Y, Hartung HP, Reddel SW, Beadnall H, Taha M, Klistorner A, Barnett MH. Multiple sclerosis: structural and functional integrity of the visual system following alemtuzumab therapy. J Neurol Neurosurg Psychiatry. 2021 Dec;92(12):1319-1324. |
| Wingerchuk DM, Fujihara K, Palace J, Berthele A, Levy M, Kim HJ, Nakashima I, Oreja-Guevara C, Wang KC, Miller L, Shang S, Sabatella G, Yountz M, Pittock SJ; PREVENT Study Group. Long-term Safety and Efficacy of Eculizumab in Aquaporin-4 IgG-Positive NMOSD. Ann Neurol. 2021 Feb 14. doi: 10.1002/ana.26049. Epub ahead of print. |
| Young AS, Reddel SW, Jonker B, Thompson E, Welgampola MS. A dorsolateral medullary lesion causing persistent down-beating nystagmus. J Neurol. 2021 Nov;268(11):4371-4373. doi: 10.1007/s00415-021-10626-2. |
| Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S. Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Mov Disord. 2021 Oct 1. |
| Aggarwal A, Ling MJ, Central and Primary Hypogonadism: Chronic Non-Malignant Pain, J of Pain Management May 2020:13 (2) 1-9 |
| Aggarwal A, Sarmast F, Hendricks M. Parkinsonism in Rehabilitation - The Potential Benefits of Levodopa, Archives of Clinical Case Reports Dec 20:Vol 1: Issue 5: 104-108 |
| Akcimen, F., Martins, S., Liao, C., Bourassa, C.V., Catoire, H., Nicholson, G.A., Riess, O., Raposo, M., Franca, M.C., Vasconcelos, J., Lima, M., Lopes-Cendes, I., Saraiva-Pereira, M.L., Jardim, L.B., Sequeiros, J., Dion, P.A., and Rouleau, G.A. (2020) Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. Aging (Albany NY). 12(6): p. 4742-4756. |
| Arif, B., Rasheed, A., Kumar, K.R., ...Lohmann, K., Naz, S. A novel homozygous KY variant causing a complex neurological disorder. European Journal of Medical Genetics, 2020, 63(11), 104031 |
| Baskin J, Hardy TA, Law LY, Bolitho SJ, Barnett Y. Black Blood MRI: endotheliopathy of Susac's syndrome unmasked. Neurol Sci. 2020. Jul 9. Online ahead of print. |
| Bukhari W, Clarke L, O'Gorman C, Khalilidehkordi E, Arnett S, Prain KM, Woodhall M, Silvestrini R, Bundell CS, Ramanathan S, Abernethy D, Bhuta S, Blum S, Boggild M, Boundy K, Brew BJ, Brownlee W, Butzkueven H, Carroll WM, Chen C, Coulthard A, Dale RC, Das C, Dear K, Fabis-Pedrini MJ, Fulcher D, Gillis D, Hawke S, Heard R, Henderson APD, Heshmat S, Hodgkinson S, Jimenez-Sanchez S, Kilpatrick TJ, King J, Kneebone C, Kornberg AJ, Lechner-Scott J, Lin MW, Lynch C, Macdonnell RAL, Mason DF, McCombe PA, Pereira J, Pollard JD, Reddel SW, Shaw C, Spies J, Stankovich J, Sutton I, Vucic S, Walsh M, Wong RC, Yiu EM, Barnett MH, Kermode AG, Marriott MP, Parratt J, Slee M, Taylor BV, Willoughby E, Wilson RJ, Brilot F, Vincent A, Waters P, Broadley SA. The clinical profile of NMOSD in Australia and New Zealand. Journal of Neurology 2020; 267(5):1431-1443. |
| Bukhari W, Clarke L, O'Gorman C, Khalilidehkordi E, Arnett S, Prain KM, Woodhall M, Silvestrini R, Bundell CS, Ramanathan S, Abernethy D, Bhuta S, Blum S, Boggild M, Boundy K, Brew BJ, Brownlee W, Butzkueven H, Carroll WM, Chen C, Coulthard A, Dale RC, Das C, Dear K, Fabis-Pedrini MJ, Fulcher D, Gillis D, Hawke S, Heard R, Henderson APD, Heshmat S, Hodgkinson S, Jimenez-Sanchez S, Kilpatrick TJ, King J, Kneebone C, Kornberg AJ, Lechner-Scott J, Lin MW, Lynch C, Macdonnell RAL, Mason DF, McCombe PA, Pereira J, Pollard JD, Reddel SW, Shaw C, Spies J, Stankovich J, Sutton I, Vucic S, Walsh M, Wong RC, Yiu EM, Barnett MH, Kermode AG, Marriott MP, Parratt J, Slee M, Taylor BV, Willoughby E, Wilson RJ, Brilot F, Vincent A, Waters P, Broadley SA. The clinical profile of NMOSD in Australia and New Zealand. J Neurol. 2020 May;267(5):1431-1443. doi: 10.1007/s00415-020-09716-4. Epub 2020 Jan 31. PMID: 32006158. |
| Burrell JR, Foxe D, Leyton C, Piguet O, Hodges JR. What to make of equivocal amyloid imaging results. Neurocase. 2020 Jun;26(3):137-146. |
| Cif, L., Demailly, D., Lin, J.-P., ... Kumar K.R. ... Gorman, K.M., Kurian, M.A. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain: a journal of neurology, 2020, 143(11), pp. 3242-3261 |
| Clayton J, Rodrigo P, Servián-Morilla E, Cooper ST, Waddell L, Reardon K, |
| Corbett A, Hernandez-Laín A, Sanchez A, Esteban Perez J, Paradas-Lopez C, Rivas-Infante E, |
| diagnostic considerations. Neuromuscul Disord. 2020 May;30(5):389-399. |
| Dobson-Stone, C., Hallupp, M., Shahheydari, H., Ragagnin, A.M.G., Chatterton, Z., Carew-Jones, F., Shepherd, C.E., Stefen, H., Paric, E., Fath, T., Thompson, E.M., Blumbergs, P., Short, C.L., Field, C.D., Panegyres, P.K., Hecker, J., Nicholson, G., Shaw, A.D., Fullerton, J.M., Luty, A.A., Schofield, P.R., Brooks, W.S., Rajan, N., Bennett, M.F., Bahlo, M., Landers, J.E., Piguet, O., Hodges, J.R., Halliday, G.M., Topp, S.D., Smith, B.N., Shaw, C.E., McCann, E., Fifita, J.A., Williams, K.L., Atkin, J.D., Blair, I.P., and Kwok, J.B. (2020) CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis. Brain. 143(3): p. 783-799. |
| Dumitrescu A, Chye R, Aggarwal A. A Retrospective Case Series of Patients who have undergone Coeliac Plexus Blocks for the purpose of alleviating pain due to intra-abdominal malignancy, Cancer Reports 2020 - Manuscript ID CNR2-20-0037 |
| Foxe D, Irish M, Hu A, Carrick J, Hodges JR, Ahmed RM, Burrell JR, Piguet O. Longitudinal cognitive and functional changes in primary progressive aphasia. J Neurol, in press. |
| Foxe D, Irish M, Roquet D, Scharfenberg A, Bradshaw N, Hodges JR, Burrell JR, Piguet O. Visuospatial short-term and working memory disturbance in the primary progressive aphasias: Neuroanatomical and clinical implications. Cortex. 2020 Nov;132:223-237. |
| González-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Domínguez-González C, Arteche-López A, Soltanzadeh P, Evesson F, Navas C, Mavillard F, |
| Hardy TA, Taylor RL, Qiu J, Gopinath S, Trewin B, Spring PJ, Shaffi M, Bolitho SJ, Garsia RJ, Roxburgh R, Mason DF, Ip J, Chan F, Chen L, Wilson I, Beadnall HN, Barnett MH, Parratt JDE, Watson JDG, Welgampola MS, Reddel SW, Tsang B, Halmagyi GM. The neuro-otology of Susac syndrome. J Neurol. 2020. Dec;267(12):3711-3722. |
| Hardy TA, Taylor RL, Qiu J, O'Brien B, Gopinath S, Trewin B, Spring PJ, Shaffi M, Bolitho SJ, Garsia RJ, Roxburgh R, Mason DF, Ip J, Chan F, Chen L, Wilson I, Beadnall HN, Barnett MH, Parratt JDE, Watson JDG, Welgampola MS, Reddel SW, Tsang B, Halmagyi GM. The neuro-otology of Susac syndrome. J Neurol. 2020 Dec;267(12):3711-3722. doi: 10.1007/s00415-020-10086-0. Epub 2020 Jul 21. PMID: 32696340. |
| Henden, L., Twine, N.A., Szul, P., McCann, E.P., Nicholson, G.A., Rowe, D.B., Kiernan, M.C., Bauer, D.C., Blair, I.P., and Williams, K.L. (2020) Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases. NPJ Genom Med. 5: p. 32. |
| Hwang YT, Piguet O, Hodges JR, Grunstein R, Burrell JR. Sleep and orexin: A new paradigm for understanding behavioural-variant frontotemporal dementia? Sleep Med Rev. 2020 Jul 13;54:101361. |
| Iacoangeli, A., Lin, T., Al Khleifat, A., Jones, A.R., Opie-Martin, S., Coleman, J.R.I., Shatunov, A., Sproviero, W., Williams, K.L., Garton, F., Restuadi, R., Henders, A.K., Mather, K.A., Needham, M., Mathers, S., Nicholson, G.A., Rowe, D.B., Henderson, R., McCombe, P.A., Pamphlett, R., Blair, I.P., Schultz, D., Sachdev, P.S., Newhouse, S.J., Proitsi, P., Fogh, I., Ngo, S.T., Dobson, R.J.B., Wray, N.R., Steyn, F.J., and Al-Chalabi, A. (2020) Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics. Cell Rep. 33(4): p. 108323. |
| Jiang JX, Fewings N, Dervis S, Fois AF, Duma SR, Silsby M, Bandodkar S, Ramanathan S, Bleasel A, John B, Brown DA, Lin MW. Novel surrogate markers of CNS Inflammation in CSF in the diagnosis of autoimmune encephalitis. Frontiers in Neurology. 2020;10:1390. |
| Khalilidehkordi E, Clarke L, Arnett S, Bukhari W, Jimenez Sanchez S, O'Gorman C, Sun J, Prain KM, Woodhall M, Silvestrini R, Bundell CS, Abernethy D, Bhuta S, Blum S, Boggild M, Boundy K, Brew BJ, Brown M, Brownlee W, Butzkueven H, Carroll WM, Chen C, Coulthard A, Dale RC, Das C, Fabis-Pedrini MJ, Fulcher D, Gillis D, Hawke S, Heard R, Henderson APD, Heshmat S, Hodgkinson S, Kilpatrick TJ, King J, Kneebone C, Kornberg AJ, Lechner-Scott J, Lin MW, Lynch C, Macdonell RAL, Mason DF, McCombe PA, Pereira J, Pollard JD, Ramanathan S, Reddel SW, Shaw C, Spies J, Stankovich J, Sutton I, Vucic S, Walsh M, Wong RC, Yiu EM, Barnett MH, Kermode AG, Marriott MP, Parratt J, Slee M, Taylor BV, Willoughby E, Brilot F, Vincent A, Waters P, Broadley SA. Relapse patterns in NMOSD: evidence for earlier occurrence of optic neuritis and possible seasonal variation. Frontiers in Neurology 2020;11:537. |
| Khalilidehkordi E, Clarke L, Arnett S, Bukhari W, Jimenez Sanchez S, O'Gorman C, Sun J, Prain KM, Woodhall M, Silvestrini R, Bundell CS, Abernethy D, Bhuta S, Blum S, Boggild M, Boundy K, Brew BJ, Brown M, Brownlee W, Butzkueven H, Carroll WM, Chen C, Coulthard A, Dale RC, Das C, Fabis-Pedrini MJ, Fulcher D, Gillis D, Hawke S, Heard R, Henderson APD, Heshmat S, Hodgkinson S, Kilpatrick TJ, King J, Kneebone C, Kornberg AJ, Lechner-Scott J, Lin MW, Lynch C, Macdonell RAL, Mason DF, McCombe PA, Pereira J, Pollard JD, Ramanathan S, Reddel SW, Shaw C, Spies J, Stankovich J, Sutton I, Vucic S, Walsh M, Wong RC, Yiu EM, Barnett MH, Kermode AG, Marriott MP, Parratt J, Slee M, Taylor BV, Willoughby E, Brilot F, Vincent A, Waters P, Broadley SA. Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal Variation. Front Neurol. 2020 Jun 16;11:537. doi: 10.3389/fneur.2020.00537. PMID: 32612571; PMCID: PMC7308484. |
| Klistorner A, Triplett JD, Barnett MH, Graham SL, Yiannikas C. Monitoring latency of multifocal VEP in MS patients: Implications for clinical trials of remyelinating therapies. Clinical Neurophysiology. Accepted June 2020 |
| Konopka, A., Whelan, D.R., Jamali, M.S., Perri, E., Shahheydari, H., Toth, R.P., Parakh, S., Robinson, T., Cheong, A., Mehta, P., Vidal, M., Ragagnin, A.M.G., Khizhnyak, I., Jagaraj, C.J., Galper, J., Grima, N., Deva, A., Shadfar, S., Nicholson, G.A., Yang, S., Cutts, S.M., Horejsi, Z., Bell, T.D.M., Walker, A.K., Blair, I.P., and Atkin, J.D. (2020) Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations. Mol Neurodegener. 15(1): p. 51. |
| Korsukewitz C, Reddel SW, Bar-Or A, Wiendl H. Neurological immunotherapy in the era of COVID-19 - looking for consensus in the literature. Nat Rev Neurol. 2020 Sep;16(9):493-505. doi: 10.1038/s41582-020-0385-8. Epub 2020 Jul 8. Erratum in: Nat Rev Neurol. 2020 Jul 22;: PMID: 32641860; PMCID: PMC7341707. |
| Kumar KR, Cortese A, Tomlinson SE, Efthymiou S, Ellis M, Zhu D, Stoll M, Dominik N, Tisch S, Tchan M, Wu KHC, Devery S, Spring PJ, Hawke S, Cremer P, Ng K, Reilly MM, Nicholson GA, Houlden H, Kennerson M. RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome. Brain. 2020 Oct 1;143(10):e82. |
| Kutlubaev MA, Pykko, I, Hardy TA, Gürkov, R. What should neurologists know about Meniere's disease? Pract Neurol. 2020. Nov 28 Online ahead of print. |
| Kutlubaev MA, Zakirova, EN, Idrisova RF, Hardy TA. Cerebellar ataxia as a first manifestation of systemic lupus erythematosus. Acta Neurol Belg. 2020. Oct;120(5):1241-1243. |
| Lee S, Aggarwal A. The Application of Telehealth to Remote and Rural Australians with Chronic Neurological Conditions, Internal Medicine Journal Accepted Apr 2020 |
| McCann, E.P., Fifita, J.A., Grima, N., Galper, J., Mehta, P., Freckleton, S.E., Zhang, K.Y., Henden, L., Hogan, A.L., Chan Moi Fat, S., Wu, S.S., Jagaraj, C.J., Berning, B.A., Williams, K.L., Twine, N.A., Bauer, D., Piguet, O., Hodges, J., Kwok, J.B.J., Halliday, G.M., Kiernan, M.C., Atkin, J., Rowe, D.B., Nicholson, G.A., Walker, A.K., Blair, I.P., and Yang, S. (2020) Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice. J Neurol Neurosurg Psychiatry. 91(2): p. 162-171. |
| Munoz, S.S., Engel, M., Balez, R., Do-Ha, D., Cabral-da-Silva, M.C., Hernandez, D., Berg, T., Fifita, J.A., Grima, N., Yang, S., Blair, I.P., Nicholson, G., Cook, A.L., Hewitt, A.W., Pebay, A., and Ooi, L. (2020) A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling. Cells. 9(9). |
| Nabais, M.F., Lin, T., Benyamin, B., Williams, K.L., Garton, F.C., Vinkhuyzen, A.A.E., Zhang, F., Vallerga, C.L., Restuadi, R., Freydenzon, A., Zwamborn, R.A.J., Hop, P.J., Robinson, M.R., Gratten, J., Visscher, P.M., Hannon, E., Mill, J., Brown, M.A., Laing, N.G., Mather, K.A., Sachdev, P.S., Ngo, S.T., Steyn, F.J., Wallace, L., Henders, A.K., Needham, M., Veldink, J.H., Mathers, S., Nicholson, G., Rowe, D.B., Henderson, R.D., McCombe, P.A., Pamphlett, R., Yang, J., Blair, I.P., McRae, A.F., and Wray, N.R. (2020) Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis. NPJ Genom Med. 5: p. 10. |
| Perez-Siles, G., Cutrupi, A., Ellis, M., Kuriakose, J., La Fontaine, S., Mao, D., Uesugi, M., Takata, R.I., Speck-Martins, C.E., Nicholson, G., and Kennerson, M.L. (2020) Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs. Dis Model Mech. 13(2). |
| Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, E.M., Ryan, M.M., Choi, B.O., Nicholson, G., and Kennerson, M.L. (2020) Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation. Sci Rep. 10(1): p. 9262. |
| Phua, C.S., Kumar, K.R., Levy, S. Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia. Journal of the Neurological Sciences, 2020, 419, 117167 |
| Pilli D, Zou A, Dawes R, Lopez JA, Tea F, Liyanage G, Lee FX, Merheb V, Houston SD, Pillay A, Jones HF, Ramanathan S, Mohammad S, Kelleher AD, Alexander SI, Dale RC, Brilot F. Pro-inflammation dopamine-2 receptor-specific T cells in paediatric movement and psychiatric disorders. Clinical and Translational Immunology 2020; 9(12): e1229. |
| Powell A, Graham D, Portley R, Snowden J, Hayes M. Wearable technology to assess bradykinesia and immobility in patients with severe depression undergoing electroconvulsive therapy: A pilot study. J Psychiatr Res 2020 Nov 130:75-81 |
| Qiu J, Barnes S, Wijesinghe R, Limaye S, Reddel SW. Vaping and e-cigarettes: a life-threatening hypersensitivity reaction. Intern Med J. 2020 Oct;50(10):1294-1295. doi: 10.1111/imj.15027. PMID: 33111412. |
| Qiu, J, Riminton DS, Reddel, SW, Hardy TA. Pregnancy without relapse following treated Susac syndrome. Mult Scler Relat Disord. 2020. Oct;45:102357. |
| Ramanathan S, Al-Diwani A, Waters P, Irani SR. The autoantibody-mediated encephalitides: from clinical observations to molecular pathogenesis. Journal of Neurology. 2020, Online ahead of print. |
| Reardon K, Corbett A, Needham M, McKelvie P. Is it Pompe Disease? Australian |
| Reindl M, Schanda Reindl M, Schanda K, Woodhall M, Tea F, Ramanathan S, Sagen J, Fryer JP, Mills J, Teegen B, Mindorf S, Ritter N, Krummrei U, Stöcker W, Eggert J, Flanagan EP, Ramberger M, Hegen H, Rostasy K, Berger T, Leite MI, Palace J, Irani SR, Dale RC, Probst C, Probst M, Brilot F, Pittock SJ, Waters P. International multicentre examination of MOG antibody assays. Neurology: Neuroimmunology and Neuroinflammation 2020;7(2):e674 |
| Riley LG, Waddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJ, Joshi H, |
| Rinaldi S, Davies A, Fehmi J, Beadnall HN, Wang J, Hardy TA, Barnett MH, Broadley SA, Waters P, Reddel SW, Irani SR, Brilot F, Dale RC, Ramanathan S; Australian and New Zealand MOG Study Group. Overlapping central and peripheral nervous system syndromes in MOG antibody-associated disorders. Neurol Neuroimmunol Neuroinflamm. 2020 Dec 3;8(1):e924. doi: 10.1212/NXI.0000000000000924. PMID: 33272955. |
| Senderek, J., Lassuthova, P., Kabzinska, D., Abreu, L., Baets, J., Beetz, C., Braathen, G.J., Brenner, D., Dalton, J., Dankwa, L., Deconinck, T., De Jonghe, P., Drager, B., Eggermann, K., Ellis, M., Fischer, C., Stojkovic, T., Herrmann, D.N., Horvath, R., Hoyer, H., Iglseder, S., Kennerson, M., Kinslechner, K., Kohler, J.N., Kurth, I., Laing, N.G., Lamont, P.J., Loscher, W., Ludolph, A., Marques, W., Jr., Nicholson, G., Ong, R., Petri, S., Ravenscroft, G., Rebelo, A., Ricci, G., Rudnik-Schoneborn, S., Schirmacher, A., Schlotter-Weigel, B., Schoels, L., Schule, R., Synofzik, M., Francou, B., Strom, T.M., Wagner, J., Walk, D., Wanschitz, J., Weinmann, D., Weishaupt, J., Wiessner, M., Windhager, R., Young, P., Zuchner, S., Toegel, S., Seeman, P., Kochanski, A., and Auer-Grumbach, M. (2020) The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. Neurology. |
| Shelly S, Triplett JD, Pinto MV, Milone M, Diehn F, Zekeridou A, Liewluck T. Immune checkpoint inhibitor associated myopathy defines a clinic-sero-pathologically distinct immune-mediated myopathy. Brain communications. 2020 Nov 2;2(2):181. |
| Silsby, M, Clarke CJ, Lee K, Sharpe D. Anti-Hu limbic encephalitis preceding the appearance of mediastinal germinoma by 9 years. Neurol Neuroimmunol Neuroinflamm 2020 Feb 21;7(3):e685. |
| Steel, D., Zech, M., Zhao, C., ... Kumar, K.R. ... Kurian, M.A., Winkelmann, J. Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Annals of Neurology, 2020, 88(5), pp. 867-877 |
| Tchan M, Henderson R, Kornberg A, Kairaitis K, Fuller M, Davis M, Ellaway C, |
| Tea F, Pilli D, Ramanathan S, Lopez JA, Merheb V, Lee FXZ, Zou A, Liyanage G, Bassett CB, Thomsen S, Reddel SW, Barnett MH, Brown DA, Dale RC, Brilot F; Australasian New Zealand MOG Study Group. Effects of the Positive Threshold and Data Analysis on Human MOG Antibody Detection by Live Flow Cytometry. Front Immunol. 2020 Feb 6;11:119. doi: 10.3389/fimmu.2020.00119. PMID: 32117270; PMCID: PMC7016080. |
| Triplett J, Kassardjian CD, Liewluck T, Tahir A, Lennon V, Kopecky S, Milone M. Cardiac and Respiratory Complications of Necrotizing Autoimmune Myopathy. Mayo Clinic Proceedings. DOI: 10.1016/j.mayocp.2020.03.032 |
| Triplett JD, Laughlin RS. Amyloid neuro-myopathy- American Clinical Neurophysiology Society featured case. Accepted May 2020 |
| Triplett JD, Pinto M, Hosfield EA, Milone M, Liewluck T. Myopathies featuring early or prominent dysphagia. Muscle Nerve. 2020 Sep;62(3):344-350. |
| Triplett JD, Shelly S, Livne G, Milone M, Kassardjian CD, Liewluck T, Kelly C, Naddaf E, Laughlin RS, Lamb CJ, Rubin D, Dimberg EL, Dubey D, Mills JR, Mandrekar J, Klein CJ. Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotonia. Brain Commun. 2020; 2 (2):Epub 2020 Dec 13 |
| Triplett JD, Vijayan S, Rajanayagama S, Tuch P, Kermode AG. Pregnancy outcomes amongst multiple sclerosis females with third trimester natalizumab use. Multiple Sclerosis and Related Disorders. 2020; 40: 101961 |
| Turner-Strokes L, on behalf of the ULIS III Study Group. Assessing the Effectiveness of Upper Limb Spasticity Management Using a Structured Approach to Goal Setting and Outcome Measurement: First Cycle Results from the ULIS-III Study, J Rehabil Med Nov 2021; 53: 1-9 doi:10.2340/16501977-2770 |
| Visser M, Wong S, Simonetti S, Hazelton JL, Devenney E, Ahmed RM, van Langenhove T, Parker D, Burrell JR, Hodges JR, Kumfor F. Using a second-person approach to identify disease-specific profiles of social behavior in frontotemporal dementia and Alzheimer's disease. Cortex. 2020 Dec;133:236-246. |
| Wali, G., Kumar, K.R., Liyanage, E., ...Mackay-Sim, A., Sue, C.M. Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells. Frontiers in Neuroscience, 2020, 14, 820 |
| Wali, G.M., Wali, G., Kumar, K.R., Sue, C.M. Long-Term Follow-Up and Evolution of ADCY5-From a Ballistic to Dystonic Phenotype. Movement Disorders Clinical Practice, 2020, 7(8), pp. 985-986 |
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