By Professor Michelle Anne Farrar

Journal articles

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 - 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

Ho G; Cardamone M; Farrar M, 2015, 'Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.', World J Clin Pediatr, 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, 12, pp. 290 - 302, http://dx.doi.org/10.1007/s13311-014-0314-x

Michelle Farrar NP, 2015, 'Bone Health in Children with Duchenne Muscular Dystrophy: A Review', Pediatrics & Therapeutics, 05, http://dx.doi.org/10.4172/2161-0665.1000252

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, '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

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.', Journal of Clinical Neuroscience, 21, pp. 2040 - 2040, http://dx.doi.org/10.1016/j.jocn.2014.06.036

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 AS; Mamoune A; Mathew SJ; Kirk EP; Viollet L; Rahman S; Bekri S; Peters HL; McGill J; Glamuzina E; Farrar MA; Von der hagen M; Alexander I; Kirmse B; Barth M; Laforet P; Benlian P; Munnich A; Elpeleg ON; Pines O; Delahodde A; De keyzer Y; De lonlay P, 2012, 'Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia', Journal of Inherited Metabolic Disease, 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 - 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 - 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

Conference Papers

Strauss K; Muntoni F; Farrar M; Saito K; Mendell J; Servais L; McMillan H; Swoboda K; Kwon J; Zaidman C; Chiriboga C; Iannaccone S; Krueger J; Parsons J; Shieh P; Kavanagh S; Chand D; Tauscher-Wisniewski S; Macek T, 2021, 'Onasemnogene Abeparvovec Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with 2 Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000729283604038&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Strauss K; Muntoni F; Farrar M; Saito K; Mendell J; Servais L; McMillan H; Swoboda K; Kwon J; Zaidman C; Chiriboga C; Iannaccone S; Krueger J; Parsons J; Shieh P; Kavanagh S; Chand D; Tauscher-Wisniewski S; Macek T, 2021, 'Onasemnogene Abeparvovec Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with 3 Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000729283604012&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Farrar MA; Muntoni F; Sumner CJ; Crawford TO; Finkel RS; Mercuri E; Jiang X; Sohn J; Petrillo M; Garafalo S; Farwell W, 2021, 'Plasma Phosphorylated Neurofilament Heavy Chain (pNF-H) Level is Associated with Future Motor Function in Nusinersen-treated Individuals with Later-onset Spinal Muscular Atrophy (SMA)', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000729283602044&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Finkel RS; Al-Muhaizea M; Farrar MA; Nelson L; Prufer A; Servais L; Wang Y; Zanoteli E; Palfreeman L; El-Khairi M; Gorni K; Kletzl H; Gerber M; Scalco RS; Bertini E, 2021, 'RAINBOWFISH: A Study of Risdiplam in Newborns with Presymptomatic Spinal Muscular Atrophy (SMA)', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000729283604111&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Strauss KA; Farrar MA; Swoboda KJ; Saito K; Chiriboga CA; Finkel RS; Iannaccone ST; Krueger JM; Kwon JM; McMillan HJ; Servais L; Mendell JR; Parsons J; Scoto M; Shieh PB; Zaidman C; Schultz M; Baldinetti F; Ogrinc FG; Kavanagh S; Feltner DE; Tauscher-Wisniewski S; McGill BE; Sproule DM; Muntoni F, 2020, 'Onasemnogene Abeparvovec-xioi Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, ELECTR NETWORK, pp. 165 - 166, presented at 6th Congress of the European-Academy-of-Neurology (EAN), ELECTR NETWORK, 23 May 2020 - 26 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000534616800245&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Castro D; Finkel RS; Farrar MA; Tulinius M; Krosschell KJ; Saito K; Gambino G; Foster R; Bhan I; Wong J; Kandinov B; Farwell W, 2020, 'Nusinersen in Infantile-onset Spinal Muscular Atrophy: Results from Longer-term Treatment from the Open-label SHINE Extension Study', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, CANADA, Toronto, presented at Annual Meeting of the American-Academy-of-Neurology, CANADA, Toronto, 25 April 2020 - 01 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000536058003083&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Darras BT; De Vivo DC; Farrar MA; Mercuri E; Finkel RS; Foster R; Farwell W; Bhan I, 2020, 'Safety Profile of Nusinersen in Presymptomatic and Infantile-Onset Spinal Muscular Atrophy (SMA): Interim Results From the NURTURE and ENDEARSHINE Studies', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, CANADA, Toronto, presented at Annual Meeting of the American-Academy-of-Neurology, CANADA, Toronto, 25 April 2020 - 01 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000536058003099&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Kirschner J; Darras BT; Farrar MA; Mercuri E; Chiriboga CA; Kuntz NL; Shieh PB; Tulinius M; Montes J; Reyna SP; Gambino G; Foster R; Bhan I; Wong J; Farwell W, 2019, 'Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset spinal muscular atrophy (SMA): Results from the shine study', in JOURNAL OF THE NEUROLOGICAL SCIENCES, ELSEVIER, U ARAB EMIRATES, Emirates Neurol Soc, Dubai, presented at World Congress of Neurology (WCN), U ARAB EMIRATES, Emirates Neurol Soc, Dubai, 27 October 2019 - 31 October 2019, http://dx.doi.org/10.1016/j.jns.2019.10.1272

Schultz M; Swoboda KJ; Farrar M; McMillan H; Parsons J; Ernst U; Kernbauer E; Farrow M; Ogrinc FG; Kavanagh S; Feltner DE; McGill BE; Spector SA; L’Italien J; Sproule D; Strauss K, 2019, 'Onasemnogene Abeparvovec Gene-Replacement Therapy (GRT) in Pre-symptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update', in Neuropediatrics, Georg Thieme Verlag KG, presented at Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics, 11 September 2019 - 14 September 2019, http://dx.doi.org/10.1055/s-0039-1698169

Farrar M; Swoboda K; Schultz M; McMilan H; Parsons J; Alexander IE; Kernbauer ; Farrow M; Ogrinc F; Feltner D; McGill B; Spector S; LÍtalien J; Sproule D; Strauss K, 2019, 'AVXS-101 gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): study update', presented at Australian and New Zealand Association of Neurologist

Farrar M; Tomlinson S; Howells J; Lin S-Y; Park SB; Carey K; HOllingswoth G; Lawson J; Kiernan M; Berkovic S; Scheffer I, 2019, 'Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels', Sydney, presented at Australia and New Zealand Association of Neurologists, Sydney

Kariyawasam D; Sampaio H; Mowat D; Farrar MA, 2019, 'Genetic carrier screening for duchenne muscular dystrophy: the outcome of over twenty years of genetic counselling on disease epidemiology in a single-centre cohort study in new south wales (NSW), australia', Sydney Australia, presented at Australian and New Zealand Association of Neurologists, Sydney Australia

Saddi V; Thambipillay G; Farrar M; Pithers S; Williamson B; Chuang S; Teng A, 2018, 'Nusinersen and sleep in children with spinal muscular atrophy', in JOURNAL OF SLEEP RESEARCH, WILEY, AUSTRALIA, Brisbane, presented at 30th Annual Scientific Meeting (ASM) of Australasian-Sleep-Association and the Australasian-Sleep-Technologists-Association (Sleep DownUnder), AUSTRALIA, Brisbane, 17 October 2018 - 20 October 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000446452100150&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Mandarakas M; Menezes M; Rose K; Shy R; Eichinger K; Foscan M; Estilow T; Kennedy R; Herbert K; Bray P; Refshauge K; Ryan M; Yiu E; Farrar M; Sampaio H; Moroni I; Pagliano E; Pareyson D; Yum S; Herrmann D; Acsadi G; Finkel R; Shy M; Burns J; Sanmaneechai O, 2018, 'Development and validation of the CMT infant scale', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY, MD, Baltimore, pp. 322 - 323, presented at Annual Meeting of the Peripheral-Nerve-Society, MD, Baltimore, 21 July 2018 - 25 July 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000452787700184&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Oates E; Yau K; Jones K; Smith J; Cummings B; Farrar M; Cooper S; Lek M; Hoffman E; Straub V; Ferreiro A; Udd B; Beggs A; Bonnemann C; North K; MacArthur D; Granzier H; Muntoni F; Davis M; Laing N, 2017, 'Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, FRANCE, Saint Malo, pp. S237 - S238, presented at 22nd International Annual Congress of the World-Muscle-Society (WMS), FRANCE, Saint Malo, 03 October 2017 - 07 October 2017, http://dx.doi.org/10.1016/j.nmd.2017.06.513

Mandarakas M; Shy R; Kennedy R; Herbert K; Rose K; Menezes MP; Ryan M; Yiu E; Farrar M; Sampaio H; Estilow T; Moroni I; Yum S; Finkel R; Acsadi G; Eichinger K; Laura M; Reilly MM; Muntoni F; Refshauge K; Shy M; Burns J; Sanmaneechai O, 2017, 'SENSITIVITY OF THE CMT INFANT SCALE: PRELIMINARY ANALYSIS OF CMT SUBTYPES AND COMPARISON TO CONTROLS', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY, SPAIN, Sitges, pp. 337 - 337, presented at Peripheral-Nerve-Society Meeting, SPAIN, Sitges, 08 July 2017 - 12 July 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000409243500278&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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