Select Publications

Book Chapters

Farrar M; Kiernan MC, 2011, 'Spinal Muscular Atrophy', in Encyclopedia of Life Sciences (eLS), edn. 3rd, John Wiley & Sons, Ltd., Chichester, pp. 1 - 7, http://dx.doi.org/10.1002/9780470015902.a0006011.pub2

Journal articles

Kariyawasam DST; D’silva A; Lin C; Ryan MM; Farrar MA, 2019, 'Biomarkers and the development of a personalized medicine approach in spinal muscular atrophy', Frontiers in Neurology, vol. 10, http://dx.doi.org/10.3389/fneur.2019.00898

Donkervoort S; Sabouny R; Yun P; Gauquelin L; Chao KR; Hu Y; Al Khatib I; Töpf A; Mohassel P; Cummings BB; Kaur R; Saade D; Moore SA; Waddell LB; Farrar MA; Goodrich JK; Uapinyoying P; Chan SHS; Javed A; Leach ME; Karachunski P; Dalton J; Medne L; Harper A; Thompson C; Thiffault I; Specht S; Lamont RE; Saunders C; Racher H; Bernier FP; Mowat D; Witting N; Vissing J; Hanson R; Coffman KA; Hainlen M; Parboosingh JS; Carnevale A; Yoon G; Schnur RE; Care4Rare Canada Consortium ; Boycott KM; Mah JK; Straub V; Foley AR; Innes AM; Bönnemann CG; Shutt TE, 2019, 'MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.', Acta Neuropathol, http://dx.doi.org/10.1007/s00401-019-02059-z

Darras BT; Farrar MA; Mercuri E; Finkel RS; Foster R; Hughes SG; Bhan I; Farwell W; Gheuens S, 2019, 'An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials', CNS Drugs, http://dx.doi.org/10.1007/s40263-019-00656-w

Mandarakas MR; Menezes MP; Rose KJ; Shy R; Eichinger K; Foscan M; Estilow T; Kennedy R; Herbert K; Bray P; Refshauge K; Ryan MM; Yiu EM; Farrar M; Sampaio H; Moroni I; Pagliano E; Pareyson D; Yum SW; Herrmann DN; Acsadi G; Shy ME; Burns J; Sanmaneechai O, 2019, 'Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale', Brain : a journal of neurology, vol. 142, pp. e14, http://dx.doi.org/10.1093/brain/awy332

Paguinto SG; Kasparian NA; Bray P; Farrar M, 2019, '“It’s not just the wheelchair, it’s everything else”: Australian parents’ perspectives of wheelchair prescription for children with neuromuscular disorders', Disability and Rehabilitation, pp. 1 - 10, http://dx.doi.org/10.1080/09638288.2019.1595749

Wan HWY; Carey KA; D'Silva A; Kasparian NA; Farrar MA, 2019, '"Getting ready for the adult world": How adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being', Orphanet Journal of Rare Diseases, vol. 14, http://dx.doi.org/10.1186/s13023-019-1052-2

Cornett KMD; Wojciechowski E; Sman AD; Walker T; Menezes MP; Bray P; Halaki M; Burns J; Sman D; Mandarakas MR; Rose KJ; Bray P; Baldwin J; McKay MJ; Refshauge KM; Raymond J; Walker T; Sampaio H; Mudge A; Purcell L; Miller C; Gray K; Harman M; Gabrael N; Ouvrier RA; Farrar M; Sman A, 2019, 'Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot–Marie–Tooth disease', Muscle and Nerve, vol. 59, pp. 213 - 217, http://dx.doi.org/10.1002/mus.26352

Mandarakas MR; Menezes MP; Rose KJ; Shy R; Eichinger K; Foscan M; Estilow T; Kennedy R; Herbert K; Bray P; Refshauge K; Ryan MM; Yiu EM; Farrar M; Sampaio H; Moroni I; Pagliano E; Pareyson D; Yum SW; Herrmann DN; Acsadi G; Shy ME; Burns J; Sanmaneechai O, 2018, 'Development and validation of the Charcot-Marie-Tooth disease infant scale', Brain, vol. 141, pp. 3319 - 3330, http://dx.doi.org/10.1093/brain/awy280

Fitzgerald DA; Abel F; Jones KJ; Farrar MA, 2018, 'Spinal muscular atrophy: A modifiable disease emerges', Paediatric Respiratory Reviews, vol. 28, pp. 1 - 2, http://dx.doi.org/10.1016/j.prrv.2018.07.001

Sampaio H; Wilcken B; Farrar M, 2018, 'Screening for spinal muscular atrophy', The Medical journal of Australia, vol. 209, pp. 147 - 148, http://dx.doi.org/10.5694/mja17.00772

Kandula T; Farrar MA; Cohn R; Mizrahi D; Carey K; Johnston K; Kiernan M; Krishnan A; Park SB, 2018, 'Chemotherapy induced peripheral neuropathy in long-term survivors of childhood cancer: neurophysiological, functional and patient reported outcomes.', JAMA Neurology, vol. 75, pp. 980 - 988, http://dx.doi.org/10.1001/jamaneurol.2018.0963

Chen KA; Farrar M; Cardamone M; Gill D; Smith R; Cowell CT; Truong L; Lawson JA, 2018, 'Cannabidiol for treating drug-resistant epilepsy in children: The New South Wales experience', Medical Journal of Australia, vol. 209, pp. 217 - 221, http://dx.doi.org/10.5694/mja18.00023

Oates E; Jones K; Donkervoort S; Charlton A; Brammah S; Smith J; Ware J; Yau K; Swanson L; Whiffin N; Peduto A; Bournazos A; Waddell L; Farrar M; Sampaio H; Teoh H; Lamont P; Mowat D; Fitzsimmons R; Corbett A; Ryan M; O'Grady G; Sandaradura S; Ghaoui R; Joshi H; Marshall J; Nolan M; Kaur S; Punetha J; Topf A; Harris E; Bakshi M; Genetti C; Marttila M; Werkauff U; Streichenberger N; Pestronk A; Mazanti I; Pinner J; Vuillerot C; Grosmann C; Camacho A; Mohassel P; Leach M; Foley A; Bharucha-Goeber D; Collins J; Connolly A; Gilbreath H; Iannaccone S; Castro D; Cummings B; Webster R; Lazaro L; Vissing J; Coppens S; Deconinck N; Luk H; Thomas N; Foulds N; Illingworth M; Ellard S; McLean C; Phadke R; Ravenscroft G; Witting N; Hackman P; Clarke N; Lek M; Beggs A; Bonnemann C; MacArthur D; Granzier H; Davis M; Laing N, 2018, 'Congenital titinopathy: comprehensive characterisation & pathogenic insights', Annals or Neurology, vol. 83, pp. 1105 - 1124, http://dx.doi.org/10.1002/ana.25241

Ho G; Carey K; Cardamone M; Farrar M, 2018, 'Myotonic dystrophy type 1: clinical manifestations in children and adolescents', Archives of Disease in Childhood, vol. 104, pp. 48 - 52, http://dx.doi.org/10.1136/archdischild-2018-314837

Farrar MA; Teoh HL; Carey KA; Cairns A; Forbes R; Herbert K; Holland S; Jones KJ; Menezes MP; Morrison M; Munro K; Villano D; Webster R; Woodcock IR; Yiu EM; Sampaio H; Ryan MM, 2018, 'Nusinersen for SMA: expanded access programme', Journal of Neurology, Neurosurgery and Psychiatry, vol. 89, pp. 937 - 942, http://dx.doi.org/10.1136/jnnp-2017-317412

Paguinto S-G; Kasparian NA; Bray P; Farrar M, 2018, 'Parents' perceptions of power wheelchair prescription for children with a neuromuscular disorder: a scoping review.', Disabil Rehabil, pp. 1 - 8, http://dx.doi.org/10.1080/09638288.2018.1474496

Farrar MA; Carey KA; Paguinto SG; Chambers G; Kasparian NA, 2018, 'Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis of Australian carer perspectives.', BMJ Opem, vol. 8, pp. e020907, http://dx.doi.org/10.1136/bmjopen-2017-020907

Kariyawasam D; Carey K; Jones K; Farrar MA, 2018, 'New and developing therapies in spinal muscular atrophy', Paediatric Respiratory Reviews, vol. 28, pp. 3 - 10, http://dx.doi.org/10.1016/j.prrv.2018.03.003

Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, vol. 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355

Chen KA; Farrar MA; Cardamone M; Lawson J, 2018, 'Cannabis for paediatric epilepsy: challenges and conundrums', The Medical journal of Australia, vol. 208, pp. 138 - 142, http://dx.doi.org/10.5694/mja17.00699

Kandula T; Farrar MA; Krishnan AV; Murray J; Timmins HC; Goldstein D; Lin CSY; Kiernan MC; Park SB, 2018, 'Multimodal quantitative examination of nerve function in colorectal cancer patients prior to chemotherapy', Muscle and Nerve, vol. 57, pp. 615 - 621, http://dx.doi.org/10.1002/mus.25968

Finkel RS; Mercuri E; Darras BT; Connolly AM; Kuntz NL; Kirschner J; Chiriboga CA; Saito K; Servais L; Tizzano E; Topaloglu H; Tulinius M; Montes J; Glanzman AM; Bishop K; Zhong ZJ; Gheuens S; Bennett CF; Schneider E; Farwell W; De Vivo DC; Bradley WG; Schroth MK; Bodensteriner JB; Davis CS; Shell R; Hen J; Austin ED; Aziz-Zaman S; Cappell J; Constantinescu A; Cruz R; Dastgir J; Dunaway S; Engelstad K; Gormley M; Holuba La Marca N; Khandji A; Kramer S; Marra J; Ortiz-Miller C; Popolizio M; Salazar R; Sanabria L; Weimer L; Anand P; Gadeken R; Golumbek PT; Siener C; Zaidman CM; Al-Ghamdi F; Berde C; Ghosh P; Graham R; Harrington T; Koka A; Laine R; Liew W; Mirek E; Ordonez G; Pasternak A; Quigley J; Sethna N; Souris M; Szelag H; Wand L; Day JW; D'Souza G; Duong TT; Gee R; Kitsuwa-Lowe J; McFall D; Patnaik S; Paulose S; Perez J; Proud C; Purse B; Ramamurthi RJ; Sakamuri S; Sampson J; Sanjanwala B; Tesi Rocha AC; Watson K; Welsh L; Pena LDM; Case L; Coates J; DeArmey S; Homi MM; Milleson C; Nelson N; Ross A; Smith E; Taicher B; Wootton J; Finanger E; Benjamin D; Frank A; Roberts C; Russman B, 2017, 'Nusinersen versus sham control in infantile-onset spinal muscular atrophy', New England Journal of Medicine, vol. 377, pp. 1723 - 1732, http://dx.doi.org/10.1056/NEJMoa1702752

Burns J; Sman AD; Cornett KMD; Wojciechowski E; Walker T; Menezes MP; Mandarakas MR; Rose KJ; Bray P; Sampaio H; Farrar M; Refshauge KM; Raymond J; Baldwin J; McKay MJ; Mudge A; Purcell L; Miller C; Gray K; Harman M; Gabrael N; Ouvrier RA, 2017, 'Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial', The Lancet Child and Adolescent Health, vol. 1, pp. 106 - 113, http://dx.doi.org/10.1016/S2352-4642(17)30013-5

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

Farrar MA; Lee MJ; Howells J; Andrews PI; Lin CSY, 2017, 'Burning pain: Axonal dysfunction in erythromelalgia', Pain, vol. 158, pp. 900 - 911, http://dx.doi.org/10.1097/j.pain.0000000000000856

Kandula T; Farrar MA; Kiernan MC; Krishnan AV; Goldstein D; Horvath L; Grimison P; Boyle F; Baron-Hay S; Park SB, 2017, 'Neurophysiological and clinical outcomes in chemotherapy-induced neuropathy in cancer', Clinical Neurophysiology, vol. 128, pp. 1166 - 1175, http://dx.doi.org/10.1016/j.clinph.2017.04.009

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, vol. 81, pp. 355 - 368, http://dx.doi.org/10.1002/ana.24864

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, vol. 32, pp. 92 - 96, http://dx.doi.org/10.1016/j.sleep.2016.12.005

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, vol. 32, pp. 92 - 96, http://dx.doi.org/10.1016/j.sleep.2016.12.005

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

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, vol. 30, pp. 162 - 167, http://dx.doi.org/10.1016/j.mito.2016.07.014

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

Farrar MA; Vucic S; Nicholson G; Kiernan MC, 2016, 'Motor cortical dysfunction develops in spinocerebellar ataxia type 3', Clinical Neurophysiology, vol. 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, 2016, 'Pediatric chemotherapy induced peripheral neuropathy: A systematic review of current knowledge', Cancer Treatment Reviews, vol. 50, pp. 118 - 128, http://dx.doi.org/10.1016/j.ctrv.2016.09.005

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, vol. 119, pp. 35 - 40, http://dx.doi.org/10.1016/j.rmed.2016.08.018

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, vol. 12, http://dx.doi.org/10.1371/journal.pgen.1006177

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, vol. 87, pp. 1384 - 1385, http://dx.doi.org/10.1136/jnnp-2016-313812

Stoll M; Teoh H; Lee J; Reddel S; Zhu Y; Buckley M; Sampaio H; Roscioli T; Farrar M; Nicholson G, 2016, 'Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia', Neurology, vol. 87, pp. 65 - 70, http://dx.doi.org/10.1212/WNL.0000000000002813

Perera N; Sampaio H; Woodhead H; Farrar M, 2016, 'Fracture in Duchenne Muscular Dystrophy: Natural History and Vitamin D Deficiency', Journal of Child Neurology, vol. 31, pp. 1181 - 1187, http://dx.doi.org/10.1177/0883073816650034

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, vol. 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, vol. 127, pp. 911 - 918, http://dx.doi.org/10.1016/j.clinph.2015.05.012

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

Michelle Farrar NP, 2015, 'Bone Health in Children with Duchenne Muscular Dystrophy: A Review', Pediatrics & Therapeutics, vol. 05, 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 J Clin Pediatr, vol. 4, pp. 66 - 80, http://dx.doi.org/10.5409/wjcp.v4.i4.66

Farrar MA; Kiernan MC, 2015, 'The Genetics of Spinal Muscular Atrophy: Progress and Challenges', Neurotherapeutics, vol. 12, pp. 290 - 302, http://dx.doi.org/10.1007/s13311-014-0314-x

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, vol. 49, pp. 858 - 865, http://dx.doi.org/10.1002/mus.24085

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, vol. 93, pp. 1108 - 1117, http://dx.doi.org/10.1016/j.ajhg.2013.10.020

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, vol. 162, pp. 155 - 159, http://dx.doi.org/10.1016/j.jpeds.2012.05.067

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, vol. 591, pp. 273 - 286, http://dx.doi.org/10.1113/jphysiol.2012.240820


Back to profile page