By Professor Michelle Anne Farrar

Journal articles

Farrar M; Carey K; Paguinto S-G; Chamber G; Kasparian N, 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

Ho G; Widger J; Cardamone M; Farrar MA, 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

Farrar MA; Park SB; Vucic S; Carey KA; Turner BJ; Gillingwater TH; Swoboda KJ; Kiernan MC, 2017, 'Emerging therapies and challenges in spinal muscular atrophy', Annals of Neurology, 81, pp. 355 - 368, http://dx.doi.org/10.1002/ana.24864

Teoh HL; Carey K; Sampaio H; Mowat D; Roscioli T; Farrar M, 2017, 'Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy', Neural Plasticity, 2017, pp. 6509493, http://dx.doi.org/10.1155/2017/6509493

Kandula T; Farrar MA; Park SB; Howells J; Carey K; Lin CS, 2017, 'Maturation of motor and sensory axonal biophysical properties occurs in parallel from early childhood', Journal of the Neurological Sciences, 381, pp. 497, http://dx.doi.org/10.1016/j.jns.2017.08.3609

Mercuri E; Finkel R; Farrar M; Richman S; Foster R; Hughes S; Farwell W; Gheuens S, 2017, 'P.379 Infants and children with SMA treated with nusinersen in clinical trials: an integrated safety analysis', Neuromuscular Disorders, 27, pp. s210, http://dx.doi.org/10.1016/j.nmd.2017.06.419

Servais L; Farrar M; Finkel R; Kirschner J; Muntoni F; Sun P; Gheuens S; Schneider E; Farwell W, 2017, 'P.381 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, http://dx.doi.org/10.1016/j.nmd.2017.06.421

Farrar MA; Ho G; Widger J; Cardamone M, 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

Teoh HL; Sampaio H; Roscioli T; Farrar M, 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

Farrar MA; Teoh HL; Brammah S; Roscioli T; Cardamone M, 2016, 'Glial mitochondropathy in infantile neuroaxonal dystrophy: Pathophysiological and therapeutic implications', Brain, 139, pp. e67, http://dx.doi.org/10.1093/brain/aww174

Farrar MA; Vucic S; Nicholson G; Kiernan MC, 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

Kandula T; Park SB; Cohn RJ; Krishnan AV; Farrar MA; goldstein D, 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

Teoh HL; Solyom A; Schuchman EH; Mowat D; Roscioli T; Farrar M; Sampaio H; Teoh HL, 2016, 'Polyarticular arthritis and spinal muscular atrophy in acid ceramidase deficiency', Pediatrics, 138, pp. e20161068, http://dx.doi.org/10.1542/peds.2016-1068

Chew K; Carey K; Ho G; Mallitt KA; Widger J; Farrar M, 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

Menezes MP; Rahman S; Bhattacharya K; Clark D; Christodoulou J; Ellaway C; Farrar M; Pitt M; Sampaio H; Ware TL; Wedatilake Y; Thorburn DR; Ryan MM; Ouvrier R, 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

Perera N; Sampaio H; Woodhead H; Farrar M, 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

Farrar MA; brewer M; Chaudhry R; Qi J; Kidambi A; Drew A; Menezes M; Ryan M; Mowat D; Subramanian G; Young H; Zuchner S; Reddel S; Nicholson G; Kennerson M, 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

Stoll M; Teoh H; Lee J; Reddel S; Zhu Y; Buckley M; Sampaio H; Roscioli T; Farrar M; Nicholson G; Teoh HL, 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

Teoh HL; Mohammad SS; Britton PN; Kandula T; Lorentzos MS; Booy R; Jones CA; Rawlinson W; Ramachandran V; Rodriguez ML; Ian Andrews P; Dale RC; Farrar MA; Sampaio H, 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

Menezes MP; Farrar MA; Webster R; Antony J; O'Brien K; Ouvrier R; Kiernan MC; Burns J; Vucic S, 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

Farrar MA; Vucic S; Nicholson G; Kiernan MC, 2016, '3. Cortical dysfunction in Machado–Jospeh disease', Clinical Neurophysiology, 127, pp. e11, http://dx.doi.org/10.1016/j.clinph.2015.11.023

Teoh HL; Sampaio H; Farrar M, 2015, 'Enterovirus 71 Neuroimaging: “The New Polio of the 21st Century”', Pediatrics & Therapeutics, 05, http://dx.doi.org/10.4172/2161-0665.1000i111

Farrar MA; Kiernan MC, 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

Farrar NPM, 2015, 'Bone Health in Children with Duchenne Muscular Dystrophy: A Review', Pediatrics & Therapeutics, 2015, http://dx.doi.org/10.4172/2161-0665.1000252

Ho G; Cardamone M; Farrar M, 2015, 'Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.', World Journal of Clinical Pediatrics, 4, pp. 66 - 80, http://dx.doi.org/10.5409/wjcp.v4.i4.66

Farrar MA; Park SB; Krishnan AV; Kiernan MC; Lin CSY, 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

Teoh HL; Sampaio H; Farrar M, 2014, '22. The pseudo-poliomyelitis of the 21st century, enterovirus 71', Journal of Clinical Neuroscience, 21, pp. 2040, http://dx.doi.org/10.1016/j.jocn.2014.06.036

Ghaoui R; Corbett A; Needham M; Farrar M; Sampaio H; Mowat D; Rajagopalan S; Liang C; Kaur S; Waddell L; Daly K; Thomas BP; Lek M; Daly MJ; North KN; MacArthur DG; Sue CM; Clarke NF, 2014, 'G.P.219 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

Gupta VA; Ravenscroft G; Shaheen R; Todd EJ; Swanson LC; Shiina M; Ogata K; Hsu C; Clarke NF; Darras BT; Farrar MA; Hashem A; Manton ND; Muntoni F; North KN; Sandaradura SA; Nishino I; Hayashi YK; Sewry CA; Thompson EM; Yau KS; Brownstein CA; Yu TW; Allcock RJN; Davis MR; Wallgren-Pettersson C; Matsumoto N; Alkuraya FS; Laing NG; Beggs AH, 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

Lin CSY; Farrar MA, 2013, 'No gain - No pain?', Journal of Neurology Neurosurgery and Psychiatry, 84, pp. 364, http://dx.doi.org/10.1136/jnnp-2012-304098

Farrar MA; Park SB; Lin CS-Y; Kiernan MC, 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

Farrar M; Vucic O; Johnston H; du Sart D; Kiernan MC, 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

Farrar M; Vucic O; Johnston H; Kiernan MC, 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

Michot C; Hubert L; Romero NB; Gouda A; Mamoune A; Mathew S; Kirk E; Viollet L; Rahman S; Bekri S; Peters H; McGill J; Glamuzina E; Farrar M; von der Hagen M; Alexander IE; Kirmse B; Barth M; Laforet P; Benlian P; Munnich A; JeanPierre M; Elpeleg O; Pines O; Delahodde A; de Keyzer Y; de Lonlay P, 2012, 'Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.', J Inherit Metab Dis, 35, pp. 1119 - 1128, http://dx.doi.org/10.1007/s10545-012-9461-6

Farrar M; Vucic O; Lin CS-Y; Park SB; Johnston H; Bostock H; Kiernan MC, 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

Farrar MA; Vucic S; Johnston HM; Kiernan MM, 2010, '36. Mechanisms of neurodegeneration in spinal muscular atrophy', Journal of Clinical Neuroscience, 17, pp. 1621, http://dx.doi.org/10.1016/j.jocn.2010.07.037

Farrar MA; Lin CS-Y; Krishnan A; Park SB; Andrews PI; Kiernan MC, 2010, '6. Axonal energy failure during a stroke-like episode in MELAS', Clinical Neurophysiology, 121, pp. e2, http://dx.doi.org/10.1016/j.clinph.2009.10.026

Farrar M; Lin CS-Y; Krishnan AV; Park SB; Andrews PI; Kiernan MC, 2010, 'Acute, reversible axonal energy failure during stroke-like episodes in MELAS', Pediatrics, 126, pp. e734 - e739

Farrar MA; Johnston HM; Grattan-Smith P; Turner A; Kiernan MC, 2009, 'Spinal muscular atrophy: Molecular mechanisms', Current Molecular Medicine, 9, pp. 851 - 862, http://dx.doi.org/10.2174/156652409789105516

Bye AM; Connolly AM; Farrar MA; Lawson JA; Lonergan A, 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

Farrar M; Lawson J; Ziegler J; Johnston H, 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

Farrar MA; Connolly AM; Lawson JS; Burgess AJ; Lonergan A; Bye AM, 2008, 'Teaching doctors how to diagnose paroxysmal events: a comparison of two educational methods', Medical Education, 42, pp. 909 - 914

Barakate MS; Fisher CM; Appleberg M; Farrar MA; Tse RV; Harrington TJ; Sorby W, 2001, 'Combined endovascular and open surgery for four-vessel cerebrovascular occlusive disease', Journal of Endovascular Therapy, 8, pp. 62 - 66, http://dx.doi.org/10.1177/152660280100800110

Barakate MS; Fisher CM; Appleberg M; Farrar MA; Tse RV; Harrington TJ; Sorby W, 2001, 'Combined Endovascular and Open Surgery for Four-Vessel Cerebrovascular Occlusive Disease', Journal of Endovascular Therapy, 8, pp. 62 - 66, http://dx.doi.org/10.1583/1545-1550(2001)008<0062:ceaosf>2.0.co;2

Conference Papers

Farrar T; Cardamone M; D'Silva A; Palacious-Derflingher L; Farrar M, 2025, 'The safety and efficacy of ketogenic diet therapy among adolescents and adults with refractory epilepsy: a systematic review and meta-analysis', in EPILEPSIA, WILEY, PORTUGAL, Lisbon, pp. S61 - S61, presented at 36th International Epilepsy Congress, PORTUGAL, Lisbon, 30 August 2025 - 03 September 2025

Wirth B; Stringer BW; Zhang Y; Taghipour-Sheshdeh A; Zetzsche S; Piano V; Fuhrmann N; Becker J; Karakaya M; Goh S; Koelbel H; Farrar M; Giacomotto J, 2025, 'From Newborn Screening to Functional Insight: SMN1 VUS studies in zebrafish supported therapeutic decisions', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, ITALY, Milan, pp. 813 - 813, presented at 58th Conference of the European-Society-of-Human-Genetics (ESHG), ITALY, Milan, 24 May 2025 - 27 May 2025

Lorentzos M; Farrar MA; Ko M; Bray P; Attwood L; Jones K; Alexander I, 2025, 'The Kids Advanced Therapeutics Program - Responding to the Need for Systems Readiness in the Gene Therapy Translation Pathway', in MOLECULAR THERAPY, CELL PRESS, LA, New Orleans, presented at 28th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), LA, New Orleans, 13 May 2025 - 17 May 2025

Calma AD; Pavey N; Silva CS; Bos MVD; Yiannikas C; Farrar M; Kiernan M; Menon P; Vucic S, 2025, '3574 Diagnostic utility of threshold tracking transcranial magnetic stimulation paradigms in ALS', BMJ, pp. a45.2 - a4a45, presented at Poster Abstracts, http://dx.doi.org/10.1136/bmjno-2025-anzan.123

Nevin S; Kelada L; Wakefield C; Hilton G; Maack M; Djafar J; Elvidge K; Farrar M, 2024, 'Childhood Dementia Insight: A mixed-methods study investigating the psychosocial, quality of life, and psychological impacts of childhood dementia on families', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, GERMANY, Berlin, pp. 1217 - 1217, presented at 57th Conference of the European-Society-of-Human-Genetics (ESHG), GERMANY, Berlin, 01 June 2024 - 04 June 2024

McKnight L; Roberts N; Recsei K; Balasooriya C; Farrar M; Millis N; Healy L; Baynam G; Gannon S; Lissiman E; Zurynski Y; Jaffe A; Palmer E, 2024, 'Co-designing Clinical Educational Resources and National Guidelines to Address Inequity of Access to Rare Disease Care in Australia', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, GERMANY, Berlin, pp. 1819 - 1819, presented at 57th Conference of the European-Society-of-Human-Genetics (ESHG), GERMANY, Berlin, 01 June 2024 - 04 June 2024

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