Associate Professor Michelle Farrar

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Contact Category:

Academic

Discipline:

Paediatrics

Michelle Farrar is an Associate Professor in Paediatric Neurology at UNSW Sydney and specialist child neurologist at Sydney Children’s Hospital, leading the Neuromuscular clinical and research programs.

Michelle’s team is focused on developing and translating innovative ways of providing the best possible care from the time of diagnosis, through treatment and beyond to people with neuromuscular, neurodevelopmental or rare neurogenetic diseases. The research program also integrates interdisciplinary genomics research, together with community and consumer involvement.

Current roles include:

Lead, Neuromuscular Diseases Clinical and Research Program, Sydney Children’s Hospital.
Research lead (Clinical Neurology) NSW/ACT Newborn Screening Pilot for neuromuscular disorders

Society Memberships & Professional Activities:

Member of the Australian and New Zealand Association of Neurologists
Member of the Australia and New Zealand Child Neurology Society
Fellow of the Royal Australasian College of Physicians
Treat NMD Neuromuscular Network
Australian and New Zealand Association of Neurologists Educational and Training EEG and Clinical Neurophysiology Committee member
Australian and New Zealand Child Neurology Society, Scientific meeting organising committee member (2019)
Australian Neuromuscular Network Clinical Care Steering Group
Sydney Children’s Hospital Scientific Advisory Committee member for the Human Research Ethics Committee
Australian Neuromuscular Diseases Registry, clinical lead for SMA and advisory committee member
Neurodevelopment Australia, Steering Committee member
Motor Neurone Diseases Research Institute of Australia Beryl Bayley Postdoctoral Fellow (2016-2019)

School:

Discipline of Paediatrics

Phone:

(02) 9382 1799

Email:

m.farrar@unsw.edu.au

University role:

Associate Professor

Qualifications:

MBBS (Hons) FRACP PhD

Awards:

Michelle Beets Memorial Silver Award (2018) NSW Health and Humpty Dumpty Foundation for improving health outcomes for children
Leonard Cox Award, Australian and New Zealand Association of Neurologists (2017) for contributions to Australian neuroscience

https://med.unsw.edu.au/news/michelle-farrar-recognised-leonard-cox-award

School of Women’s and Children’s Health, UNSW Sydney Best publication award (2017)
Dean’s Rising Star Award, UNSW Medicine, UNSW Sydney (2016)
Asian Oceanian Myology Centre Fellowship award for outstanding presentation (2016)
James Lance Young Investigator Award, Australia and New Zealand Association of Neurologists (2010)

Research

Research activities:

A/Prof Farrar is a leading researcher in paediatric neuromuscular and rare neurogenetic disorders, successfully translating research to improve health practice and outcomes for patients, their families and the community. Her multidisciplinary team of researchers and clinicians lead projects to:

Improve early diagnosis and advance reproductive carrier screening
Improve health outcomes for children
Apply genetic technologies for the discovery of novel biomarkers for clinical translation
Develop and implement new therapies
Develop the clinical and translational capability of paediatric precision medicine in neurology
Improve the understanding of patient and family experiences of new and emerging health technologies
Improve the understanding of the ethical and social issues related to emerging health technologies
Rapidly translate evidence into clinical practice and health policy

To undertake this work, Michelle’s team uses a variety of research designs and technologies including:

International multicentre clinical trials
Prospective cohort studies
Cross-sectional studies
In depth qualitative analyses
Systematic reviews of the literature
Implementation science evaluations
Economic evaluations and cost effectiveness analyses
Clinical and neurophysiological assessments
Cutting-edge high-throughput genomic sequencing

Michelle’s team also applies their clinical research approach to other neurological conditions, such as neurodevelopmental disorders, epilepsy and neuro-oncology and are passionate about creating an environment where people affected by these disorders are actively involved across all stages and types of research.

Michelle also has a strong commitment to improving the practice of medicine, thus connecting her research achievements to her activities in medical education and community and consumer engagement. As a regular contributor to the media, Associate Professor Farrar is raising awareness in the community about early diagnosis and treatment of paediatric neuromuscular disorders and possibilities for carrier screening to allow couples to make reproductive choices.

Socio-economic Objective (SEO) tags:

Child Health

Neurodegenerative Disorders Related to Ageing

Public Health (excl. Specific Population Health) not elsewhere classified

Field of Research (FOR) Tag:

Paediatrics

Neurology and Neuromuscular Diseases

Neurosciences

Public Health and Health Services

Genetics

Genomics

Teaching & Supervision

I am available to supervise:

Yes

Supervision keywords:

nervous system diseases

neuromuscular diseases

neurodegenerative diseases

neurodevelopmental disorder

inherited disease

genomics

Media

Facebook:

https://www.facebook.com/UNSWPaediatrics

Publications related to this Person

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

Sundercombe SL; Berbic M; Evans CA; Cliffe C; Elakis G; Temple SEL; Selvanathan A; Ewans L; Quayum N; Nixon CY; Dias KR; Lang S; Richards A; Goh S; Wilson M; Mowat D; Sachdev R; Sandaradura S; Walsh M; Farrar MA; Walsh R; Fletcher J; Kirk EP; Teunisse GM; Schofield D; Buckley MF; Zhu Y; Roscioli T, 2021, 'Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency', Journal of Molecular Diagnostics, vol. 23, pp. 894 - 905, http://dx.doi.org/10.1016/j.jmoldx.2021.04.007

Chou E; Lindeback R; D'Silva AM; Sampaio H; Neville K; Farrar MA, 2021, 'Growth and nutrition in pediatric neuromuscular disorders', Clinical Nutrition, vol. 40, pp. 4341 - 4348, http://dx.doi.org/10.1016/j.clnu.2021.01.013

Dangouloff T; Vrščaj E; Servais L; Osredkar D; Adoukonou T; Aryani O; Barisic N; Bashiri F; Bastaki L; Benitto A; Omran TB; Bernert G; Bertini E; Borde P; Born P; Boustani RM; Butoianu N; Castiglioni C; Catibusic F; Chan S; Chien YH; Christodoulou K; Dejsuphong D; Farrar M; Filip D; Goemans N; Guinhouya K; Haberlova J; Hadzsiev K; Hovhannesyan K; Isohanni P; Radovic NI; Jacquier D; Jalloh A; Jedrzejowska M; Kandawasvika G; Kaputu C; Kawatu N; Kernohan K; Kirschner J; Klink B; Kodsy S; Kouame-Assouan AE; Kravljanac R; Kreile M; Litvinenko I; McMillan H; Mesa S; Mohamed I; Kanzoska LM; Nevo Y; Nguefack S; Nkole K; O'Grady G; O'Rourke D; Oskoui M; Piazzon F; Poddighe D; Prasauskiene A; Prieto J; Rasmussen M; Razafindrasata S; Saha N; Saito K; Sakadi F; Sangare M; Schroth M; Shalkevich L; Shatillo A; Suthar R; Szabo L; Tatishvili N; Tazir M; Tizzano E; Topaloglu H; Tulinius M; van der Pol L; Vazquez G; Vlodavets D; Wanigasinghe J; Wilmshurst J; Xiong H; Zafeiriou D; Zamba E, 2021, 'Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go', Neuromuscular Disorders, vol. 31, pp. 574 - 582, http://dx.doi.org/10.1016/j.nmd.2021.03.007

Chan DL; Kennedy SE; Sarkozy VE; Chung CWT; Flanagan D; Mowat D; Farrar MA; Lawson JA, 2021, 'Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome', Pediatric Research, vol. 89, pp. 1447 - 1451, http://dx.doi.org/10.1038/s41390-020-1002-7

Chand DH; Zaidman C; Arya K; Millner R; Farrar MA; Mackie FE; Goedeker NL; Dharnidharka VR; Dandamudi R; Reyna SP, 2021, 'Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series', Journal of Pediatrics, vol. 231, pp. 265 - 268, http://dx.doi.org/10.1016/j.jpeds.2020.11.054

MacCannell D; Berger Z; East L; Mercuri E; Kirschner J; Muntoni F; Farrar MA; Peng J; Zhou J; Nestorov I; Farwell W; Finkel RS, 2021, 'Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen', Neuromuscular Disorders, vol. 31, pp. 310 - 318, http://dx.doi.org/10.1016/j.nmd.2021.02.014

Kariyawasam DST; D'Silva AM; Vetsch J; Wakefield CE; Wiley V; Farrar MA, 2021, '“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy', EClinicalMedicine, vol. 33, http://dx.doi.org/10.1016/j.eclinm.2021.100742

Waddell LB; Bryen SJ; Cummings BB; Bournazos A; Evesson FJ; Joshi H; Marshall JL; Tukiainen T; Valkanas E; Weisburd B; Sadedin S; Davis MR; Faiz F; Gooding R; Sandaradura SA; O'Grady GL; Tchan MC; Mowat DR; Oates EC; Farrar MA; Sampaio H; Ma A; Neas K; Wang M-X; Charlton A; Chan C; Kenwright DN; Graf N; Arbuckle S; Clarke NF; MacArthur DG; Jones KJ; Lek M; Cooper ST, 2021, 'WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase', NEUROLOGY-GENETICS, vol. 7, http://dx.doi.org/10.1212/NXG.0000000000000554

Kariyawasam D; D'silva A; Howells J; Herbert K; Geelan-Small P; Lin CSY; Farrar MA, 2021, 'Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen', Journal of Neurology, Neurosurgery and Psychiatry, vol. 92, pp. 78 - 85, http://dx.doi.org/10.1136/jnnp-2020-324254

Shih STF; Farrar MA; Wiley V; Chambers G, 2021, 'Newborn screening for spinal muscular atrophy with disease-modifying therapies: A cost-effectiveness analysis', Journal of Neurology, Neurosurgery and Psychiatry, http://dx.doi.org/10.1136/jnnp-2021-326344

Kichula EA; Proud CM; Farrar MA; Kwon JM; Saito K; Desguerre I; McMillan HJ, 2021, 'Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy', Muscle and Nerve, http://dx.doi.org/10.1002/mus.27363

Paguinto SG; Kasparian NA; Bray P; Farrar M, 2020, '“It’s not just the wheelchair, it’s everything else”: Australian parents’ perspectives of wheelchair prescription for children with neuromuscular disorders', Disability and Rehabilitation, vol. 42, pp. 3457 - 3466, http://dx.doi.org/10.1080/09638288.2019.1595749

Farrar MA; Kiernan MC, 2020, 'Treating adults with spinal muscular atrophy with nusinersen', Journal of Neurology, Neurosurgery and Psychiatry, vol. 91, pp. 1139, http://dx.doi.org/10.1136/jnnp-2020-324036

Farrar MA; Kiernan MC, 2020, 'Spinal muscular atrophy — the dawning of a new era', Nature Reviews Neurology, vol. 16, pp. 593 - 594, http://dx.doi.org/10.1038/s41582-020-00410-7

D'Silva A; Farrar MA, 2020, 'Personalized medicine for children with spinal muscular atrophy: Toward the holy grail', Muscle and Nerve, vol. 62, pp. 425 - 426, http://dx.doi.org/10.1002/mus.27030

Kandula T; Park SB; Carey KA; Lin CSY; Farrar MA, 2020, 'Peripheral nerve maturation and excitability properties from early childhood: Comparison of motor and sensory nerves', Clinical Neurophysiology, vol. 131, pp. 2452 - 2459, http://dx.doi.org/10.1016/j.clinph.2020.06.035

Chou E; Lindeback R; Sampaio H; Farrar MA, 2020, 'Nutritional practices in pediatric patients with neuromuscular disorders', Nutrition Reviews, vol. 78, pp. 857 - 865, http://dx.doi.org/10.1093/nutrit/nuz109

Farrar MA; Carey KA; Paguinto SG; Kasparian NA; De Abreu Lourenço R, 2020, '“The Whole Game is Changing and You’ve Got Hope”: Australian Perspectives on Treatment Decision Making in Spinal Muscular Atrophy', Patient, vol. 13, pp. 389 - 400, http://dx.doi.org/10.1007/s40271-020-00415-w

Kariyawasam D; Alexander IE; Kurian M; Farrar MA, 2020, 'Great expectations: Virus-mediated gene therapy in neurological disorders', Journal of Neurology, Neurosurgery and Psychiatry, vol. 91, pp. 849 - 860, http://dx.doi.org/10.1136/jnnp-2019-322327

Chambers GM; Settumba SN; Carey KA; Cairns A; Menezes MP; Ryan M; Farrar MA, 2020, 'Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy', Neurology, vol. 95, pp. 1 - 10, http://dx.doi.org/10.1212/WNL.0000000000009715

Kandula T; Farrar MA; Cohn RJ; Carey KA; Johnston K; Kiernan MC; Krishnan AV; Park SB, 2020, 'Changes in long term peripheral nerve biophysical properties in childhood cancer survivors following neurotoxic chemotherapy', Clinical Neurophysiology, vol. 131, pp. 783 - 790, http://dx.doi.org/10.1016/j.clinph.2019.12.411

Wan HWY; Carey KA; D'Silva A; Vucic S; Kiernan MC; Kasparian NA; Farrar MA, 2020, 'Health, wellbeing and lived experiences of adults with SMA: A scoping systematic review', Orphanet Journal of Rare Diseases, vol. 15, pp. 70, http://dx.doi.org/10.1186/s13023-020-1339-3

Kariyawasam DST; Russell JS; Wiley V; Alexander IE; Farrar MA, 2020, 'The implementation of newborn screening for spinal muscular atrophy: the Australian experience', Genetics in Medicine, vol. 22, pp. 557 - 565, http://dx.doi.org/10.1038/s41436-019-0673-0

Stelzer-Braid S; Wynn M; Chatoor R; Scotch M; Ramachandran V; Teoh HL; Farrar MA; Sampaio H; Andrews PI; Craig ME; MacIntyre CR; Varadhan H; Kesson A; Britton PN; Newcombe J; Rawlinson WD, 2020, 'Next generation sequencing of human enterovirus strains from an outbreak of enterovirus A71 shows applicability to outbreak investigations', Journal of Clinical Virology, vol. 122, pp. 104216 - 104216, http://dx.doi.org/10.1016/j.jcv.2019.104216

Paguinto SG; Kasparian NA; Bray P; Farrar M, 2020, 'Multidisciplinary perspectives and practices of wheelchair prescription for children with neuromuscular conditions', Disability and Rehabilitation: Assistive Technology, pp. 1 - 9, http://dx.doi.org/10.1080/17483107.2020.1839793

Chen KA; Widger J; Teng A; Fitzgerald DA; D'Silva A; Farrar M, 2020, 'Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience', Paediatric Respiratory Reviews, http://dx.doi.org/10.1016/j.prrv.2020.09.002

Mercuri E; Darras B; Chiriboga C; Farrar M; Kirschner J; Kuntz N; Acsadi G; Tulinius M; Montes J; Gambino G; Foster R; Ramirez-Schrempp D; Garafolo S; Farwell W, 2020, 'SMA – THERAPY', Neuromuscular Disorders, vol. 30, pp. S121 - S121, http://dx.doi.org/10.1016/j.nmd.2020.08.256

Strauss K; Farrar M; Swoboda K; Saito K; Chiriboga C; Finkel R; Iannaccone S; Krueger J; Kwon J; McMillan H; Servais L; Mendell J; Parsons J; Scoto M; Shieh P; Zaidman C; Schultz M; Ogrinc F; Group S; Muntoni F, 2020, 'SMA – THERAPY', Neuromuscular Disorders, vol. 30, pp. S122 - S122, http://dx.doi.org/10.1016/j.nmd.2020.08.259

Finkel R; Castro D; Farrar M; Tulinius M; Krosschell K; Saito K; Gambino G; Foster R; Ramirez-Schrempp D; Wong J; Kandinov B; Farwell W, 2020, 'SMA – THERAPY', Neuromuscular Disorders, vol. 30, pp. S124 - S124, http://dx.doi.org/10.1016/j.nmd.2020.08.265

Kariyawasam DST; D’Silva A; Herbert K; Lin CSY; Geelan-Small P; Farrar MA, 2020, '7. Motor unit changes in children with spinal muscular atrophy treated with nusinersen', Clinical Neurophysiology, vol. 131, pp. e3 - e4, http://dx.doi.org/10.1016/j.clinph.2019.11.040

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; 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 Neuropathologica, vol. 138, pp. 1013 - 1031, http://dx.doi.org/10.1007/s00401-019-02059-z

Jones HF; Bryen SJ; Waddell LB; Bournazos A; Davis M; Farrar MA; McLean CA; Mowat DR; Sampaio H; Woodcock IR; Ryan MM; Jones KJ; Cooper ST, 2019, 'Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants', Neuromuscular Disorders, vol. 29, pp. 913 - 919, http://dx.doi.org/10.1016/j.nmd.2019.09.013

Strauss KA; Swoboda KJ; Farrar MA; McMillan HJ; Parsons J; Krueger JM; Iannaccone ST; Chiriboga CA; Kwon JM; Saito K; Scoto M; Kausar I; Schultz M; Kernbauer E; Farrow M; Ogrinc FG; Kavanagh S; Feltner DE; McGill BE; Spector SA; L’Italien J; Sproule DM; Muntoni F, 2019, '15.33 AVXS-101 in presymptomatic spinal muscular atrophy (SMA)', Journal of Neurology Neurosurgery & Psychiatry, vol. 90, pp. e7, http://dx.doi.org/10.1136/jnnp-2019-abn-2.20

Paguinto SG; Kasparian NA; Bray P; Farrar M, 2019, 'Parents’ perceptions of power wheelchair prescription for children with a neuromuscular disorder: a scoping review', Disability and Rehabilitation, vol. 41, pp. 2750 - 2757, http://dx.doi.org/10.1080/09638288.2018.1474496

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, vol. 33, pp. 919 - 932, http://dx.doi.org/10.1007/s40263-019-00656-w

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

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: Development and validation of the charcot-marie-tooth disease infant scale (Brain (2018) 141 (3319-3330) DOI: 10.1093/brain/awy280)', Brain, vol. 142, pp. E14, http://dx.doi.org/10.1093/brain/awy332

Cornett KMD; Wojciechowski E; Sman AD; Walker T; Menezes MP; Bray P; Halaki M; Burns J; Sman D; Menezes MP; 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, 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

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

Banuelos R; Beavis E; Le Marne F; Rowe N; Gao Y; Menzies J; Farrar MA; Cardamone M, 2019, 'Factors Affecting the Efficacy, Tolerability and Compliance of Dietary Therapy for Epilepsy- Four-Years Experience', Neurological Case Reports, vol. 2, pp. 1010 - 1010, http://www.remedypublications.com/neurological-case-reports-abstract.php?aid=4936

Strauss KA; Swoboda KJ; Farrar MA; McMillan HJ; Parsons J; Krueger JM; Iannaccone ST; Chiriboga CA; Kwon JM; Saito K; Scoto M; Baldinetti F; Schultz M; Kernbauer E; Farrow M; Ogrinc FG; Kavanagh S; Feltner DE; McGill BE; Spector SA; L’Italien J; Sproule DM; Muntoni F, 2019, 'Onasemnogene abeparvovec gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): SPR1NT study update', Journal of the Neurological Sciences, vol. 405, pp. 268 - 269, http://dx.doi.org/10.1016/j.jns.2019.10.1317

Schultz M; Swoboda K; Farrar M; McMillan H; Parsons J; Kernbauer E; Farrow M; Ogrinc F; Kavanagh S; Feltner D; McGill B; Spector S; L'Italien J; Sproule D; Strauss K, 2019, 'P.350Onasemnogene abeparvovec gene-replacement therapy (GRT) in pre-symptomatic spinal muscular atrophy (SMA)', Neuromuscular Disorders, vol. 29, pp. S183 - S183, http://dx.doi.org/10.1016/j.nmd.2019.06.512

Day JW; Chiriboga CA; Crawford TO; Darras BT; Finkel RS; Connolly AM; Iannaccone ST; Kuntz NL; Pena LDM; Schultz M; Shieh PB; Smith EC; Farrar M; Feltner DE; Ogrinc FG; Macek TA; Kernbauer E; Muehring LM; L’Italien J; Sproule DM; Kaspar BK; Mendell JR, 2019, '066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update', Journal of Neurology, Neurosurgery & Psychiatry, vol. 90, pp. A22.1 - A22, http://dx.doi.org/10.1136/jnnp-2019-anzan.58

Farrar M; Swoboda KJ; Schultz M; McMillan H; Parsons J; Alexander IE; Kernbauer E; Farrow M; Ogrinc FG; Feltner DE; McGill BE; Spector SA; L’Italien J; Sproule DM; Strauss KA, 2019, '014 AVXS-101 gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): study update', Journal of Neurology, Neurosurgery & Psychiatry, vol. 90, pp. A5.3 - A6, http://dx.doi.org/10.1136/jnnp-2019-anzan.14

Schultz M; Swoboda K; Farrar M; McMillan H; Parsons J; Farrow M; Ogrinc FG; Feltner DE; McGill BE; Spector SA; L’Italien J; Sproule DM; Strauss KA, 2019, 'P.065 AVXS-101 gene-replacement therapy (GRT)) in presymptomatic spinal muscular atrophy (SMA): study update', Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, vol. 46, pp. S31 - S32, http://dx.doi.org/10.1017/cjn.2019.165

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

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

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

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; 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

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

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

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

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

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

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

Sampaio H; Farrar M; Al Safar A, 2018, 'METABOLIC MYOPATHIES I', Neuromuscular Disorders, vol. 28, pp. S112 - S112, http://dx.doi.org/10.1016/j.nmd.2018.06.315

Sampaio H; Kariyawasam D; Buckley M; Mowat D; Robinson J; Taylor P; Jones K; Farrar M, 2018, 'DUCHENNE MUSCULAR DYSTROPHY - GENETICS', Neuromuscular Disorders, vol. 28, pp. S97 - S98, http://dx.doi.org/10.1016/j.nmd.2018.06.264

Castro D; Farrar M; Finkel R; Tulinius M; Krosschell K; Saito K; Zhang Y; Bhan I; Farwell W; Reyna S, 2018, 'SMA THERAPIES I', Neuromuscular Disorders, vol. 28, pp. S79 - S80, http://dx.doi.org/10.1016/j.nmd.2018.06.198

Sampaio H; Farrar M; Al Safar A, 2018, 'LGMD AUTOSOMAL RESSESSIVE AND DOMINANT', Neuromuscular Disorders, vol. 28, pp. S60 - S60, http://dx.doi.org/10.1016/j.nmd.2018.06.129

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

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; 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

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; 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

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

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, vol. 381, pp. 497 - 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, 'Infants and children with SMA treated with nusinersen in clinical trials: an integrated safety analysis', Neuromuscular Disorders, vol. 27, pp. S210 - 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, '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, vol. 27, pp. S211 - 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, vol. 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, vol. 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, vol. 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, 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

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

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

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

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

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

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

Farrar MA; Vucic S; Nicholson G; Kiernan MC, 2016, '3. Cortical dysfunction in Machado–Jospeh disease', Clinical Neurophysiology, vol. 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, vol. 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, 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

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

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

Teoh HL; Sampaio H; Farrar M, 2014, '22.', Journal of Clinical Neuroscience, vol. 21, pp. 2040 - 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', Neuromuscular Disorders, vol. 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, vol. 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, vol. 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, vol. 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, vol. 162, pp. 155 - 159, http://dx.doi.org/10.1016/j.jpeds.2012.05.067

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, vol. 35, pp. 1119 - 1128, http://dx.doi.org/10.1007/s10545-012-9461-6

Farrar M; Vucic O; Johnston H; Kiernan MC, 2012, 'Corticomotoneuronal Integrity and Adaption in Spinal Muscular Atrophy', Archives of Neurology, vol. 69, pp. 467 - 473, http://dx.doi.org/10.1001/archneurol.2011.1697

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, vol. 134, pp. 3185 - 3197, http://dx.doi.org/10.1093/brain/awr229

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, vol. 126, pp. e734 - e739, http://dx.doi.org/10.1542/peds.2009-2930

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, vol. 121, pp. e2 - e2, http://dx.doi.org/10.1016/j.clinph.2009.10.026

Farrar MA; Johnston HM; Grattan-Smith P; Turner A; Kiernan MC, 2009, 'Spinal muscular atrophy: Molecular mechanisms', Current Molecular Medicine, vol. 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), vol. 45, pp. 727 - 730, http://dx.doi.org/10.1111/j.1440-1754.2009.01602.x

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, vol. 42, pp. 909 - 914, http://dx.doi.org/10.1111/j.1365-2923.2008.03146.x

Farrar M; Lawson J; Ziegler J; Johnston H, 2008, 'A teenager with mononeuritis multiplex: A case report and review of the literature', Clinical Neurophysiology, vol. 119, pp. e22 - e23, http://dx.doi.org/10.1016/j.clinph.2007.10.046

Conference Papers

Bertini E; Al-Muhaizea M; Farrar M; Nelson L; Araujo APDQC; Servais L; Wang Y; Zanoteli E; El-Khairi M; Gerber M; Gorni K; Kletzl H; Palfreeman L; Scalco RS; Finkel R, 2021, 'RAINBOWFISH: A study of risdiplam in infants with presymptomatic SMA', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, pp. 396 - 396, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000663065900583&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Frohlich M; Widger J; Thambipillay G; Teng A; Farrar M; Chuang S, 2021, 'PREDICTORS OF NOCTURNAL HYPOVENTILATION IN PAEDIATRIC NEUROMUSCULAR PATIENTS: FVC Z-SCORE', in RESPIROLOGY, WILEY, pp. 190 - 190, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000644657800360&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, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000534616800245&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, Toronto, CANADA, presented at Annual Meeting of the American-Academy-of-Neurology, Toronto, CANADA, 25 April 2020 - 01 May 2020, http://gateway.webofknowledge.com/gateway/Gateway.cgi?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, Emirates Neurol Soc, Dubai, U ARAB EMIRATES, presented at World Congress of Neurology (WCN), Emirates Neurol Soc, Dubai, U ARAB EMIRATES, 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 Abstracts of the 45th Annual Meeting of the Society for 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

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

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

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

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, Baltimore, MD, pp. 322 - 323, presented at Annual Meeting of the Peripheral-Nerve-Society, Baltimore, MD, 21 July 2018 - 25 July 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?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, Saint Malo, FRANCE, pp. S237 - S238, presented at 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE, 03 October 2017 - 07 October 2017, 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

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', in Long term outcomes and risk factors for chemotherapy induced peripheral neuropathy in the paediatric population, 14th International Child Neurology Congress, 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, Quebec, CANADA, pp. 192 - 193, presented at Biennial Meeting of the Peripheral-Nerve-Society, Quebec, CANADA, 27 June 2015 - 02 July 2015, http://gateway.webofknowledge.com/gateway/Gateway.cgi?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, '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, PERGAMON-ELSEVIER SCIENCE LTD, Berlin, GERMANY, pp. 805 - 805, presented at 19th International Congress of the World-Muscle-Society, Berlin, GERMANY, 07 October 2014 - 11 October 2014, 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

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, Saint Malo, FRANCE, pp. 71 - 72, presented at Meeting of the Peripheral-Nerve-Society, Saint Malo, FRANCE, 29 June 2013 - 03 July 2013, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200182&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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, Saint Malo, FRANCE, pp. 63 - 63, presented at Meeting of the Peripheral-Nerve-Society, Saint Malo, FRANCE, 29 June 2013 - 03 July 2013, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200160&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, Australian and New Zealand Association of Neurologists Annual Scientific Meeting 2010, 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, Australian Neurosciences Society Annual Scientific Meeting 2010, Sydney, pp. 160 - 160, presented at Australian Neurosciences Society Annual Scientific Meeting 2010, Sydney, 31 January 2010 - 03 February 2010

Conference Posters

Conference Presentations

Conference Abstracts

Frohlich M; Widger J; Thambipillay G; Teng A; Farrar M; Chuang S, 2020, 'Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders: a threshold for FVC z-score', in EUROPEAN RESPIRATORY JOURNAL, EUROPEAN RESPIRATORY SOC JOURNALS LTD, Vol. 56, http://dx.doi.org/10.1183/13993003.congress-2020.1223

Mueller-Felber W; Darras BT; Chiriboga CA; Farrar MA; Mercuri E; Kirschner J; Kuntz NL; Acsadi G; Tulinius M; Montes J; Gambino G; Foster R; Ramirez-Schrempp D; Wong J; Kandinov B; Farwell W, 2020, 'Longer-term Nusinersen Treatment According to Age at First Dose: Results From the SHINE Study in Later-onset Spinal Muscular Atrophy', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, ELECTR NETWORK, Vol. 27, pp. 221 - 221, presented at 6th Congress of the European-Academy-of-Neurology (EAN), ELECTR NETWORK, 23 May 2020 - 26 May 2020, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000534616800321&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Kirschner J; Darras B; Farrar M; Mercuri E; Chiriboga C; Kuntz N; Shieh P; Tulinius M; Montes J; Reyna S; 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 NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, Copenhagen, DENMARK, Vol. 29, pp. S184 - S184, presented at 24th International Annual Congress of the World-Muscle-Society (WMS), Copenhagen, DENMARK, 01 October 2019 - 05 October 2019, http://dx.doi.org/10.1016/j.nmd.2019.06.514

Kariyawasam DS; Samapio H; Mowat D; Farrar M, 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', in JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, BMJ PUBLISHING GROUP, Sydney, AUSTRALIA, Vol. 90, presented at Annual Scientific Meeting of the Australian-and-New Zealand-Association-of-Neurologists (ANZAN), Sydney, AUSTRALIA, 21 May 2019 - 24 May 2019, http://dx.doi.org/10.1136/jnnp-2019-anzan.22

Seow C; Farrar M; Doumit M; Thambipillay G; Widger J; Jaffe A; Chuang SY, 2019, 'Compliance to Respiratory Care Guidelines for Children with Neuromuscular Disease at Sydney Children's Hospital', in AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, AMER THORACIC SOC, Dallas, TX, Vol. 199, presented at International Conference of the American-Thoracic-Society, Dallas, TX, 17 May 2019 - 22 May 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000466771104303&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Darras BT; Farrar MA; Mercuri E; Chiriboga CA; Kirschner J; Kuntz N; Shieh P; Tulinius M; Montes J; Gambino G; Foster R; Bhan I; Farwell W; Reyna SP, 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 NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, Philadelphia, PA, Vol. 92, presented at 71st Annual Meeting of the American-Academy-of-Neurology (AAN), Philadelphia, PA, 04 May 2019 - 10 May 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000475965900302&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Finkel RS; Castro D; Farrar MA; Tulinius M; Krosschell KJ; Saito K; Zhang Y; Bhan I; Farwell W; Reyna SP, 2019, 'Interim Report on the Safety and Efficacy of Longer-Term Treatment With Nusinersen in Infantile-Onset Spinal Muscular Atrophy (SMA): Updated Results From the SHINE Study', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, Philadelphia, PA, Vol. 92, presented at 71st Annual Meeting of the American-Academy-of-Neurology (AAN), Philadelphia, PA, 04 May 2019 - 10 May 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000475965906183&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Farrar MA; Tomlinson SE; Howells J; Lin CS-Y; Carey K; Park SB; Hollingsworth G; Lawson JA; Kiernan MC; Berkovic SF; Burke D; Scheffer IE, 2019, '009 Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels', in Journal of Neurology, Neurosurgery & Psychiatry, BMJ, Vol. 90, pp. A4.1 - A4, http://dx.doi.org/10.1136/jnnp-2019-anzan.9

Farrar MA; KAndula T; Murray J; Goldstein D; Krishnan A; PArk S, 2016, 'Subclinical peripheral neuropathy prior to chemotherapy in colorectal cancer patients – Myth or reality?', in Subclinical peripheral neuropathy prior to chemotherapy in colorectal cancer patients – Myth or reality?, ANZAN Biennial Clinical Neurophysiology Workshop, presented at ANZAN Biennial Clinical Neurophysiology Workshop, http://dx.doi.org/10.1016/j.clinph.2015.11.029

Farrar MA; Chew K; Widger J, 2015, 'The Impact Of Nutrition On Respiratory Function In Duchenne Muscular Dystrophy', in The Impact Of Nutrition On Respiratory Function In Duchenne Muscular Dystrophy, Australian Thoracic Society ASM, presented at Australian Thoracic Society ASM

Media

Ravenscroft G; Farrar MA; Ong R; Liang N, 2017, What prospective parents need to know about gene tests such as ‘prepair’, https://theconversation.com/what-prospective-parents-need-to-know-about-gene-tests-such-as-prepair-87083

School of Women's and Children's Health

Associate Professor Michelle Farrar

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Study @ WCH

Research @ WCH

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