By Professor Michelle Anne Farrar

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

Farrar T; D'Silva A; Cardamone M; Bartley M; Wong C; Farrar M, 2024, '2959 Clinician understanding, acceptance and utilization of ketogenic diet therapy for epilepsy in Australia and New Zealand: a cross-sectional cohort study', BMJ, pp. a5.3 - a5a5, presented at Poster Abstracts, http://dx.doi.org/10.1136/bmjno-2024-anzan.13

Zanoteli E; Finkel RS; Farrar MA; Servais L; Vlodavets D; Al-muhaizea M; Prufer A; Nelson L; Fisher C; Jaber B, 2024, 'RAINBOWFISH: primary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)', Zeppelini Editorial e Comunicacao, pp. 391 - 391, presented at Arquivos de Neuro-Psiquiatria, http://dx.doi.org/10.5327/cbn241394

Forbes R; O’Malley A; An K; Crossman V; Bayley K; Farrar M; Jones K; Nowak KJ; O’Gorman C; Yiu E, 2022, '2240 The Australian Neuromuscular Disease Registry (ANMDR) – what is it and why now?', BMJ, pp. a22.1 - a2a22, presented at Abstracts, http://dx.doi.org/10.1136/bmjno-2022-anzan.55

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

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

Chiriboga CA; Darras BT; Farrar MA; Mercuri E; Kirschner J; Kuntz NL; Acsadi G; Tulinius M; Montes J; Gambino G; Foster R; Bhan I; Wong J; Kandinov B; Farwell W, 2020, 'Longer-term Treatment With Nusinersen: Results in Later-onset Spinal Muscular Atrophy From the SHINE 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

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

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; Kernbauer E; Joshi S; Ogrinc FG; Kavanagh S; Feltner DE; Tauscher-Wisniewski S; McGill BE; Sproule DM; Muntoni F, 2020, 'Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy in Presymptomatic Spinal Muscular Atrophy: SPR1NT Study Update (2384)', in Neurology, Wolters Kluwer, http://dx.doi.org/10.1212/wnl.94.15_supplement.2384

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 K; Farrar M; McMillan H; Parsons J; Kernbauer E; Farrow M; Ogrinc F; Feltner DE; McGill BE; Spector SA; L'italien J; Sproule DM; Strauss KA, 2019, 'AVXS-101 gene-replacement in presymptomatic infants with Spinal Muscular Atrophy (SMA): clinical trial design and baseline demographics', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, NORWAY, Oslo, pp. 437 - 437, presented at 5th Congress of the European-Academy-of-Neurology (EAN), NORWAY, Oslo, 29 June 2019 - 02 July 2019

Schultz M; Swoboda K; Farrar M; McMillan H; Parsons J; Ernst U; Kernbauer E; Farrow M; Ogrinc F; Kavanagh S; Feltner D; McGill B; Spector S; 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, Thieme, pp. s1 - s55, presented at Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics, 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

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, 2017, 'RANDOMISED TRIAL OF PROGRESSIVE RESISTANCE EXERCISE FOR CHILDHOOD CHARCOT-MARIE-TOOTH DISEASE', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY, SPAIN, Sitges, pp. 249 - 250, presented at Peripheral-Nerve-Society Meeting, SPAIN, Sitges, 08 July 2017 - 12 July 2017

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

Kandula T; Farrar M; Kiernan M; Mizrahi D; Carey K; Krishnan A; Cohn R; Park S, 2017, 'LONG TERM OUTCOMES AND RISK FACTORS FOR CHEMOTHERAPY INDUCED PERIPHERAL NEUROPATHY IN CHILDHOOD CANCER SURVIVORS (S46.006)', in Neurology, Wolters Kluwer, http://dx.doi.org/10.1212/wnl.88.16_supplement.s46.006

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; Bönnemann C; North K; MacArthur D; Granzier H; Muntoni F; Davis M; Laing N, 2017, 'P.473 Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?', in Neuromuscular Disorders, Elsevier, pp. s237 - s238, http://dx.doi.org/10.1016/j.nmd.2017.06.513

Farrar M; Castro D; Finkel RS; Tulinius M; Krosschell KJ; Saito K; Zhang Y; Bhan I; Farwell W; Reyna SP, 2017, 'Longer-term Assessment of the Safety and Efficacy of Nusinersen for the Treatment of Infantile-Onset Spinal Muscular Atrophy (SMA): An Interim Analysis of the SHINE Study', Dallas, United States, presented at Annual Cure SMA Conference, Dallas, United States

Cornett K; Wojciechowski E; Sman A; Walker T; Raymond J; Menezes M; Sampaio H; Farrar M; Refshauge K; Burns J, 2016, 'SENSITIVITY OF MRI AS A BIOMARKER OF DISEASE SEVERITY IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, SCOTLAND, Univ Glasgow, Glasgow, pp. 247 - 247, presented at Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, SCOTLAND, Univ Glasgow, Glasgow, 21 June 2016 - 24 June 2016

Kandula T; Park S; Kiernan MC; Mizrahi D; Carey K; Cohn R; Krishnan A; Farrar M, 2016, 'Long term outcomes and risk factors for chemotherapy induced peripheral neuropathy in the paediatric population', Amsterdam, presented at 14th International Child Neurology Congress, Amsterdam, 01 May 2016 - 05 May 2016

Menezes MP; Farrar M; Burns J; Birman C; Gardener-Berry K; Kiernan M; Vucic S; Ouvrier R, 2015, 'RIBOFLAVIN TRANSPORTER MUTATIONS CAUSING BROWN-VIALETTO-VAN LAERE SYNDROME: UNIQUE CLINICAL AND AUDIOLOGICAL PROFILE, PATHOPHYSIOLOGY AND BENEFIT FROM RIBOFLAVIN', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, CANADA, Quebec, pp. 192 - 193, presented at Biennial Meeting of the Peripheral-Nerve-Society, CANADA, Quebec, 27 June 2015 - 02 July 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000360214600274&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Oates EC; Yau KS; Charlton A; Brammah S; Farrar MA; Sampaio H; Lamont PL; Mowat D; Fitzsimons RB; Corbett A; Ryan MM; Teoh HL; O’Grady GL; Ghaoui R; Kaur S; Lek M; North KN; MacArthur DG; Davis MR; Laing NG; Clarke NF, 2014, 'G.P.35 Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies', in Neuromuscular Disorders, Elsevier, pp. 805, http://dx.doi.org/10.1016/j.nmd.2014.06.049

Sampaio H; Perera N; Farrar MA, 2014, 'Bone health in Duchenne muscular dystrophy: natural history, pathogenesis and treatment', Amsterdam, The Netherlands, presented at 13th International Child Neurology Congress, Amsterdam, The Netherlands

Kandula T; Teoh HL; Andrews I; Bye A; Farrar MA, 2014, 'Enterovirus 71 associated lower motor neuron disease in infants and children', Amsterdam, The Netherlands, presented at 13th International Child Neurology Congress, Amsterdam, The Netherlands

Lin CSY; Farrar M; Kiernan M, 2013, 'HOW DO NERVES RESPOND TO PRESSURE? HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, FRANCE, Saint Malo, pp. 63 - 63, presented at Meeting of the Peripheral-Nerve-Society, FRANCE, Saint Malo, 29 June 2013 - 03 July 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200160&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Menezes MP; Farrar MA; Burns J; Menon P; Webster R; Antony J; Kiernan MC; Vucic S, 2013, 'PERIPHERAL MOTOR CONTRIBUTIONS TO THE PATHOPHYSIOLOGY OF BVVL-RELATED MUTATIONS IN RIBOFLAVIN TRANSPORTER 3: PATHOPHYSIOLOGICAL INSIGHTS FROM NERVE EXCITABILITY TESTING', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, FRANCE, Saint Malo, pp. 71 - 72, presented at Meeting of the Peripheral-Nerve-Society, FRANCE, Saint Malo, 29 June 2013 - 03 July 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200182&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Farrar M; Vucic S; Johnston H; Kiernan MC, 2010, 'Mechanisms of Neurodegeneration in Spinal Muscular Atrophy', in Australian and New Zealand Association of Neurologists Annual Scientific Meeting 2010: Leaps and Bounds, Melbourne, presented at Australian and New Zealand Association of Neurologists Annual Scientific Meeting 2010, Melbourne, 17 May 2010 - 20 May 2010

Farrar M; Lin CS-Y; Krishnan AV; Park SB; Andrews PI; Kiernan MC, 2010, 'Acute, reversible axonal energy failure during a stroke-like episode in MELAS', in Small D (ed.), 30th Annual Meeting of the Australian Neuroscience Society, Sydney, pp. 160 - 160, presented at Australian Neurosciences Society Annual Scientific Meeting 2010, Sydney, 31 January 2010 - 03 February 2010

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