Professor Michelle Farrar

Professor Michelle Farrar

Professor

MBBS (Hons) FRACP PhD

Medicine & Health
School of Clinical Medicine

Michelle Farrar is Professor of Paediatric Neurology at UNSW Sydney and specialist child neurologist at Sydney Children’s Hospital, leading the rare neurological diseases 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 rare neurological conditions, including neuromuscular, neurodegenerative and genetic diseases. The research program also integrates interdisciplinary genomics research, together with community and consumer involvement.

The team is involved in clinical trials investigating potential drug treatments, coupled with studies to define biomarkers to monitor therapeutic effect and genomics in newborn screening. 

 

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
  • International Rare Diseases Research Consortium (IRDiRC) Member of the Therapies Scientific Committee 
  • Sydney Children’s Hospital Scientific Advisory Committee member for the Human Research Ethics Committee
  • Member of the Scientific and Medical Advisory Committee, Childhood Dementia Initiative 
  •  
Phone
(02) 9382 1799
Location
Level 3, Sydney Children's Hospital High Street Randwick NSW 2013
  • Book Chapters | 2011
    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 | 2023
    Adams L; Selvanathan A; Batten KJ; van Doorn N; Thompson S; Mitchell A; Sampaio H; Dalkeith T; Russell J; Ellaway CJ; Farrar M; Broderick C; Bhattacharya K, 2023, 'Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales', JIMD Reports, http://dx.doi.org/10.1002/jmd2.12389
    Journal articles | 2023
    Akram F; Pidcock M; Oake D; Sholler GF; Farrar MA; Kasparian NA, 2023, '"The usual challenges of work are all magnified": Australian paediatric health professionals' experiences during the COVID-19 pandemic.', Int J Cardiol Congenit Heart Dis, 11, pp. 100434, http://dx.doi.org/10.1016/j.ijcchd.2022.100434
    Journal articles | 2023
    Balaji L; Farrar MA; D’Silva AM; Kariyawasam DS, 2023, 'Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective', Expert Review of Neurotherapeutics, 23, pp. 571 - 586, http://dx.doi.org/10.1080/14737175.2023.2218549
    Journal articles | 2023
    Davidson JE; Russell JS; Martinez NN; Mowat DR; Jones KJ; Kirk EP; Kariyawasam D; Farrar M; D’Silva A, 2023, 'The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers', Genes, 14, pp. 1403 - 1403, http://dx.doi.org/10.3390/genes14071403
    Journal articles | 2023
    Djafar JV; Johnson AM; Elvidge KL; Farrar MA, 2023, 'Childhood Dementia: A Collective Clinical Approach to Advance Therapeutic Development and Care', Pediatric Neurology, 139, pp. 76 - 85, http://dx.doi.org/10.1016/j.pediatrneurol.2022.11.015
    Journal articles | 2023
    D’Silva AM; Kariyawasam D; Venkat P; Mayoh C; Farrar MA, 2023, 'Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study', Pharmaceutics, 15, pp. 170 - 170, http://dx.doi.org/10.3390/pharmaceutics15010170
    Journal articles | 2023
    Elvidge KL; Christodoulou J; Farrar MA; Tilden D; Maack M; Valeri M; Ellis M; Smith NJC; Childhood Dementia Working Group , 2023, 'The collective burden of childhood dementia: a scoping review.', Brain, http://dx.doi.org/10.1093/brain/awad242
    Journal articles | 2023
    Farrar MA; Kariyawasam D; Grattan S; Bayley K; Davis M; Holland S; Waddel LB; Jones K; Lorentzos M; Ravine A; Wotton T; Wiley V, 2023, 'Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy', Journal of Neuromuscular Diseases, 10, pp. 15 - 28, http://dx.doi.org/10.3233/JND-221535
    Journal articles | 2023
    Farrar MA; Kiernan MC; Kariyawasam DS, 2023, 'Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology', Brain : a journal of neurology, 146, pp. e65 - e66, http://dx.doi.org/10.1093/brain/awad061
    Journal articles | 2023
    Gonski K; Chuang S; Teng A; Thambipillay G; Farrar MA; Menezes MP; Fitzgerald DA, 2023, 'Respiratory and sleep outcomes in children with SMA treated with nusinersen - real world experience.', Neuromuscul Disord, 33, pp. 531 - 538, http://dx.doi.org/10.1016/j.nmd.2023.04.007
    Journal articles | 2023
    Hosie PH; Lim C; Scott TRD; Cardamone M; Farrar MA; Frith C; Andrews PI; Pinner J; Pillai S, 2023, 'Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years', Brain and Development, 45, pp. 401 - 407, http://dx.doi.org/10.1016/j.braindev.2023.03.002
    Journal articles | 2023
    Innes EA; Qiu J; Morales-Briceño H; Farrar MA; Mohammad SS, 2023, 'Oculomotor Apraxia as an Early Presenting Sign of Juvenile-Onset Huntington's Disease', Movement Disorders Clinical Practice, 10, pp. S12 - S14, http://dx.doi.org/10.1002/mdc3.13775
    Journal articles | 2023
    Kariyawasam DS; D'Silva AM; Sampaio H; Briggs N; Herbert K; Wiley V; Farrar MA, 2023, 'Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study', The Lancet Child and Adolescent Health, 7, pp. 159 - 170, http://dx.doi.org/10.1016/S2352-4642(22)00342-X
    Journal articles | 2023
    Li T; Kandula T; Cohn RJ; Kiernan MC; Park SB; Farrar MA, 2023, 'Prospective assessment of vincristine-induced peripheral neuropathy in paediatric acute lymphoblastic leukemia', Clinical Neurophysiology, 154, pp. 157 - 168, http://dx.doi.org/10.1016/j.clinph.2023.08.002
    Journal articles | 2023
    Logan GJ; Mietzsch M; Khandekar N; D'Silva A; Anderson D; Mandwie M; Hsi J; Nelson AR; Chipman P; Jackson J; Schofield P; Christ D; Goodnow CC; Reed JH; Farrar MA; McKenna R; Alexander IE, 2023, 'Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy', Molecular Therapy, 31, pp. 1979 - 1993, http://dx.doi.org/10.1016/j.ymthe.2023.03.032
    Journal articles | 2023
    Nevin SM; McGill BC; Kelada L; Hilton G; Maack M; Elvidge KL; Farrar MA; Baynam G; Katz NT; Donovan L; Grattan S; Signorelli C; Bhattacharya K; Nunn K; Wakefield CE, 2023, 'The psychosocial impact of childhood dementia on children and their parents: a systematic review', Orphanet journal of rare diseases, 18, pp. 277, http://dx.doi.org/10.1186/s13023-023-02859-3
    Journal articles | 2023
    Paguinto SG; Kasparian NA; Bray P; Farrar M, 2023, 'Multidisciplinary perspectives and practices of wheelchair prescription for children with neuromuscular conditions', Disability and Rehabilitation: Assistive Technology, 18, pp. 166 - 174, http://dx.doi.org/10.1080/17483107.2020.1839793
    Journal articles | 2023
    Palmer EE; Millis N; Farrar M; Zurynski Y; Baynam G; Jaffe A, 2023, 'Rare diseases: New approaches to diagnosis and care', Medicine Today, 24, pp. 69 - 76
    Journal articles | 2023
    Yan J; Kothur K; Mohammad S; Chung J; Patel S; Jones HF; Keating BA; Han VX; Webster R; Ardern-Holmes S; Antony J; Menezes MP; Tantsis E; Gill D; Gupta S; Kandula T; Sampaio H; Farrar MA; Troedson C; Andrews PI; Pillai SC; Heng B; Guillemin GJ; Guller A; Bandodkar S; Dale RC, 2023, 'CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation', eBioMedicine, 91, http://dx.doi.org/10.1016/j.ebiom.2023.104589
    Journal articles | 2022
    Akram F; Pidcock M; Oake D; Sholler G; Farrar M; Kasparian N, 2022, '“The Usual Challenges of Work Are All Magnified”: Australian Paediatric Health Professionals’ Experiences During the COVID-19 Pandemic', Heart, Lung and Circulation, 31, pp. S278 - S278, http://dx.doi.org/10.1016/j.hlc.2022.06.468
    Journal articles | 2022
    Carey KA; Farrar MA; Kasparian NA; Street DJ; De Abreu Lourenco R, 2022, 'Family, healthcare professional, and societal preferences for the treatment of infantile spinal muscular atrophy: A discrete choice experiment', Developmental Medicine and Child Neurology, 64, pp. 753 - 761, http://dx.doi.org/10.1111/dmcn.15135
    Journal articles | 2022
    Chiriboga C; Servais L; Baranello G; Darras B; Day J; Deconinck N; Farrar M; Finkel R; Bertini E; Kirschner J; Masson R; Mazurkiewicz-Bełdzińska M; Vlodavets D; Bader-Weder S; Gorni K; Jaber B; McIver T; Papp G; Scalco R; Mercuri E, 2022, 'P.113 Safety update: Risdiplam clinical trial development program', Neuromuscular Disorders, 32, pp. S89 - S89, http://dx.doi.org/10.1016/j.nmd.2022.07.198
    Journal articles | 2022
    D'Silva AM; Holland S; Kariyawasam D; Herbert K; Barclay P; Cairns A; MacLennan SC; Ryan MM; Sampaio H; Smith N; Woodcock IR; Yiu EM; Alexander IE; Farrar MA, 2022, 'Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy', Annals of Clinical and Translational Neurology, 9, pp. 339 - 350, http://dx.doi.org/10.1002/acn3.51519
    Journal articles | 2022
    D'Silva AM; Kariyawasam DST; Best S; Wiley V; Farrar MA; Ravine A; Mowat D; Sampaio H; Alexander IE; Russell J; Jones K; Junek Z, 2022, 'Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme', Developmental Medicine and Child Neurology, 64, pp. 625 - 632, http://dx.doi.org/10.1111/dmcn.15117
    Journal articles | 2022
    Davidson JE; Farrar MA, 2022, 'The changing therapeutic landscape of spinal muscular atrophy', Australian Journal of General Practice, 51, pp. 38 - 42, http://dx.doi.org/10.31128/AJGP-03-21-5924
    Journal articles | 2022
    Farrar MA; Groen E; Alves C, 2022, 'Circulating neurofilaments to track dorsal root ganglion toxicity risks with AAV-mediated gene therapy', Molecular Therapy - Methods and Clinical Development, 26, pp. 96 - 97, http://dx.doi.org/10.1016/j.omtm.2022.06.005
    Journal articles | 2022
    Finkel R; Farrar M; Vlodavets D; Zanoteli E; Al-Muhaizea M; Nelson L; Prufer A; Servais L; Wang Y; Fisher C; Gerber M; Gorni K; Kletzl H; Palfreeman L; Scalco R; Bertini E, 2022, 'FP.24 RAINBOWFISH: Preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)', Neuromuscular Disorders, 32, pp. S85 - S86, http://dx.doi.org/10.1016/j.nmd.2022.07.183
    Journal articles | 2022
    Frohlich M; Widger J; Thambipillay G; Teng A; Farrar M; Chuang S, 2022, 'Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders', Pediatric Pulmonology, 57, pp. 1497 - 1504, http://dx.doi.org/10.1002/ppul.25890
    Journal articles | 2022
    Kariyawasam D; D'Silva A; Farrar M; Shin-Yi Lin C, 2022, 'WE-149. Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen', Clinical Neurophysiology, 141, pp. S73 - S74, http://dx.doi.org/10.1016/j.clinph.2022.07.193
    Journal articles | 2022
    Kariyawasam D; D’Silva A; Mowat D; Russell J; Sampaio H; Jones K; Taylor P; Farrar M, 2022, 'Incidence of Duchenne muscular dystrophy in the modern era; an Australian study', European Journal of Human Genetics, 30, pp. 1398 - 1404, http://dx.doi.org/10.1038/s41431-022-01138-2
    Journal articles | 2022
    Kariyawasam DST; D'Silva AM; Herbert K; Howells J; Carey K; Kandula T; Farrar MA; Lin C, 2022, 'Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen', Journal of Physiology, 600, pp. 95 - 109, http://dx.doi.org/10.1113/JP282249
    Journal articles | 2022
    MacCannell D; Berger Z; East L; Mercuri E; Kirschner J; Muntoni F; Farrar MA; Peng J; Zhou J; Nestorov I; Farwell W; Finkel RS, 2022, 'Corrigendum to ‘Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen’: Neuromuscular Disorders 31 (2021) 310–318/doi: 10.1016/j.nmd.2021.02.014. (Neuromuscular Disorders (2021) 31(4) (310–318), (S0960896621000420), (10.1016/j.nmd.2021.02.014))', Neuromuscular Disorders, 32, pp. e1 - e1, http://dx.doi.org/10.1016/j.nmd.2022.01.002
    Journal articles | 2022
    MacCannell D; Berger Z; Kirschner J; Mercuri E; Farrar MA; Iannaccone ST; Kuntz NL; Finkel RS; Valente M; Muntoni F, 2022, 'Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model', CNS Drugs, 36, pp. 181 - 190, http://dx.doi.org/10.1007/s40263-022-00899-0
    Journal articles | 2022
    Markati T; Oskoui M; Farrar MA; Duong T; Goemans N; Servais L, 2022, 'Emerging therapies for Duchenne muscular dystrophy', The Lancet Neurology, 21, pp. 814 - 829, http://dx.doi.org/10.1016/S1474-4422(22)00125-9
    Journal articles | 2022
    McMillan HJ; Proud CM; Farrar MA; Alexander IE; Muntoni F; Servais L, 2022, 'Onasemnogene abeparvovec for the treatment of spinal muscular atrophy', Expert Opinion on Biological Therapy, 22, pp. 1075 - 1090, http://dx.doi.org/10.1080/14712598.2022.2066471
    Journal articles | 2022
    Newson AJ; Dive L; Cini J; Hurley E; Farrar MA, 2022, 'Ethical aspects of the changing landscape for spinal muscular atrophy management in Australia', Australian Journal of General Practice, 51, pp. 131 - 135
    Journal articles | 2022
    Nguyen CQ; Alba-Concepcion K; Palmer EE; Scully JL; Millis N; Farrar MA, 2022, 'The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review', Orphanet Journal of Rare Diseases, 17, http://dx.doi.org/10.1186/s13023-022-02317-6
    Journal articles | 2022
    Nguyen CQ; Kariyawasam D; Alba-Concepcion K; Grattan S; Hetherington K; Wakefield CE; Woolfenden S; Dale RC; Palmer EE; Farrar MA, 2022, '‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics', Health Expectations, 25, pp. 3175 - 3191, http://dx.doi.org/10.1111/hex.13625
    Journal articles | 2022
    Shih STF; Keller E; Wiley V; Farrar MA; Wong M; Chambers GM, 2022, 'Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency', International Journal of Neonatal Screening, 8, http://dx.doi.org/10.3390/ijns8030045
    Journal articles | 2022
    Shih STF; Keller E; Wiley V; Wong M; Farrar MA; Chambers GM, 2022, 'Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency', International Journal of Neonatal Screening, 8, http://dx.doi.org/10.3390/ijns8030044
    Journal articles | 2022
    Strauss KA; Farrar MA; Muntoni F; Saito K; Mendell JR; Servais L; McMillan HJ; Finkel RS; Swoboda KJ; Kwon JM; Zaidman CM; Chiriboga CA; Iannaccone ST; Krueger JM; Parsons JA; Shieh PB; Kavanagh S; Tauscher-Wisniewski S; McGill BE; Macek TA, 2022, 'Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial', Nature Medicine, 28, pp. 1381 - 1389, http://dx.doi.org/10.1038/s41591-022-01866-4
    Journal articles | 2022
    Strauss KA; Farrar MA; Muntoni F; Saito K; Mendell JR; Servais L; McMillan HJ; Finkel RS; Swoboda KJ; Kwon JM; Zaidman CM; Chiriboga CA; Iannaccone ST; Krueger JM; Parsons JA; Shieh PB; Kavanagh S; Wigderson M; Tauscher-Wisniewski S; McGill BE; Macek TA, 2022, 'Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial', Nature Medicine, 28, pp. 1390 - 1397, http://dx.doi.org/10.1038/s41591-022-01867-3
    Journal articles | 2022
    Woolfenden S; Farrar MA; Eapen V; Masi A; Wakefield CE; Badawi N; Novak I; Nassar N; Lingam R; Dale RC, 2022, 'Delivering paediatric precision medicine: Genomic and environmental considerations along the causal pathway of childhood neurodevelopmental disorders', Developmental Medicine and Child Neurology, 64, pp. 1077 - 1084, http://dx.doi.org/10.1111/dmcn.15289
    Journal articles | 2022
    Yiu EM; Bray P; Baets J; Baker SK; Barisic N; De Valle K; Estilow T; Farrar MA; Finkel RS; Haberlová J; Kennedy RA; Moroni I; Nicholson GA; Ramchandren S; Reilly MM; Rose K; Shy ME; Siskind CE; Yum SW; Menezes MP; Ryan MM; Burns J, 2022, 'Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease', Journal of Neurology, Neurosurgery and Psychiatry, 93, pp. 530 - 538, http://dx.doi.org/10.1136/jnnp-2021-328483
    Journal articles | 2022
    2022, 'Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders', Pediatric Pulmonology, http://dx.doi.org/10.1002/ppul.25890
    Journal articles | 2022
    Darras B; Hagenacker T; Finkel R; Mercuri E; Montes J; Kuntz N; Farrar M; Sansone V; Berger Z; MacCannell D; Shen C; Paradis A; Bohn J; Wagner J; Somera-Molina K, 2022, 'Rationale/design of the phase 3b ASCEND study of investigational higher dose nusinersen in participants with SMA previously treated with risdiplam', NEUROMUSCULAR DISORDERS, vol. 32, pp. S86 - S86, http://dx.doi.org/10.1016/j.nmd.2022.07.185
    Journal articles | 2021
    Boulton KA; Coghill D; Silove N; Pellicano E; Whitehouse AJO; Bellgrove MA; Rinehart NJ; Lah S; Redoblado-Hodge M-A; Badawi N; Heussler H; Rogerson N; Burns J; Farrar MA; Nanan R; Novak I; Goldwater MB; Munro N; Togher L; Nassar N; Quinn P; Middeldorp CM; Guastella AJ, 2021, 'A national harmonised data collection network for neurodevelopmental disorders: A transdiagnostic assessment protocol for neurodevelopment, mental health, functioning and well-being.', JCPP Adv, 1, pp. e12048, http://dx.doi.org/10.1002/jcv2.12048
    Journal articles | 2021
    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, 89, pp. 1447 - 1451, http://dx.doi.org/10.1038/s41390-020-1002-7
    Journal articles | 2021
    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, 231, pp. 265 - 268, http://dx.doi.org/10.1016/j.jpeds.2020.11.054
    Journal articles | 2021
    Chen KA; Widger J; Teng A; Fitzgerald DA; D'Silva A; Farrar M, 2021, 'Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience', Paediatric Respiratory Reviews, 39, pp. 54 - 60, http://dx.doi.org/10.1016/j.prrv.2020.09.002
    Journal articles | 2021
    Chou E; Lindeback R; D'Silva AM; Sampaio H; Neville K; Farrar MA, 2021, 'Growth and nutrition in pediatric neuromuscular disorders', Clinical Nutrition, 40, pp. 4341 - 4348, http://dx.doi.org/10.1016/j.clnu.2021.01.013
    Journal articles | 2021
    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, 31, pp. 574 - 582, http://dx.doi.org/10.1016/j.nmd.2021.03.007
    Journal articles | 2021
    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, 92, pp. 78 - 85, http://dx.doi.org/10.1136/jnnp-2020-324254
    Journal articles | 2021
    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, 33, http://dx.doi.org/10.1016/j.eclinm.2021.100742
    Journal articles | 2021
    Kariyawasam DST; Farrar MA, 2021, 'Spinal muscular atrophy: A new treatment paradigm of proactive care', Medicine Today, 22, pp. 55 - 60
    Journal articles | 2021
    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, 64, pp. 413 - 427, http://dx.doi.org/10.1002/mus.27363
    Journal articles | 2021
    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, 31, pp. 310 - 318, http://dx.doi.org/10.1016/j.nmd.2021.02.014
    Journal articles | 2021
    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
    Journal articles | 2021
    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, 'SMA - TREATMENT', Neuromuscular Disorders, 31, pp. S133 - S133, http://dx.doi.org/10.1016/j.nmd.2021.07.299
    Journal articles | 2021
    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, 23, pp. 894 - 905, http://dx.doi.org/10.1016/j.jmoldx.2021.04.007
    Journal articles | 2021
    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 MX; 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, 7, http://dx.doi.org/10.1212/NXG.0000000000000554
    Journal articles | 2020
    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, 95, pp. 1 - 10, http://dx.doi.org/10.1212/WNL.0000000000009715
    Journal articles | 2020
    Chou E; Lindeback R; Sampaio H; Farrar MA, 2020, 'Nutritional practices in pediatric patients with neuromuscular disorders', Nutrition Reviews, 78, pp. 857 - 865, http://dx.doi.org/10.1093/nutrit/nuz109
    Journal articles | 2020
    D'Silva A; Farrar MA, 2020, 'Personalized medicine for children with spinal muscular atrophy: Toward the holy grail', Muscle and Nerve, 62, pp. 425 - 426, http://dx.doi.org/10.1002/mus.27030
    Journal articles | 2020
    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, 13, pp. 389 - 400, http://dx.doi.org/10.1007/s40271-020-00415-w
    Journal articles | 2020
    Farrar MA; Kiernan MC, 2020, 'Spinal muscular atrophy — the dawning of a new era', Nature Reviews Neurology, 16, pp. 593 - 594, http://dx.doi.org/10.1038/s41582-020-00410-7
    Journal articles | 2020
    Farrar MA; Kiernan MC, 2020, 'Treating adults with spinal muscular atrophy with nusinersen', Journal of Neurology, Neurosurgery and Psychiatry, 91, pp. 1139, http://dx.doi.org/10.1136/jnnp-2020-324036
    Journal articles | 2020
    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, 'Nusinersen in infantile-onset spinal muscular atrophy: results from longer-term treatment from the open-label SHINE extension study', NEUROMUSCULAR DISORDERS, 30, pp. S124 - S124, http://dx.doi.org/10.1016/j.nmd.2020.08.265
    Journal articles | 2020
    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, 131, pp. 783 - 790, http://dx.doi.org/10.1016/j.clinph.2019.12.411
    Journal articles | 2020
    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, 131, pp. 2452 - 2459, http://dx.doi.org/10.1016/j.clinph.2020.06.035
    Journal articles | 2020
    Kariyawasam D; Alexander IE; Kurian M; Farrar MA, 2020, 'Great expectations: Virus-mediated gene therapy in neurological disorders', Journal of Neurology, Neurosurgery and Psychiatry, 91, pp. 849 - 860, http://dx.doi.org/10.1136/jnnp-2019-322327
    Journal articles | 2020
    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, 131, pp. e3 - e4, http://dx.doi.org/10.1016/j.clinph.2019.11.040
    Journal articles | 2020
    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, 22, pp. 557 - 565, http://dx.doi.org/10.1038/s41436-019-0673-0
    Journal articles | 2020
    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, 30, pp. S121 - S121, http://dx.doi.org/10.1016/j.nmd.2020.08.256
    Journal articles | 2020
    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, 42, pp. 3457 - 3466, http://dx.doi.org/10.1080/09638288.2019.1595749
    Journal articles | 2020
    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, 122, pp. 104216 - 104216, http://dx.doi.org/10.1016/j.jcv.2019.104216
    Journal articles | 2020
    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, 30, pp. S122 - S122, http://dx.doi.org/10.1016/j.nmd.2020.08.259
    Journal articles | 2020
    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, 15, pp. 70, http://dx.doi.org/10.1186/s13023-020-1339-3
    Journal articles | 2019
    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, 2, pp. 1010 - 1010, http://www.remedypublications.com/neurological-case-reports-abstract.php?aid=4936
    Journal articles | 2019
    Cornett KMD; Wojciechowski E; Sman AD; Walker T; Menezes MP; Bray P; Halaki M; Burns J; Sman D; Cornett KMD; Mandarakas MR; Rose KJ; Bray P; Baldwin J; McKay MJ; Refshauge KM; Raymond J; Walker T; Sampaio H; Mudge A; Purcell L; Miller C; Gray K; Harman M; Gabrael N; Ouvrier RA; Farrar M; Sman A, 2019, 'Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot–Marie–Tooth disease', Muscle and Nerve, 59, pp. 213 - 217, http://dx.doi.org/10.1002/mus.26352
    Journal articles | 2019
    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, 33, pp. 919 - 932, http://dx.doi.org/10.1007/s40263-019-00656-w
    Journal articles | 2019
    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, 90, pp. A22.1 - A22, http://dx.doi.org/10.1136/jnnp-2019-anzan.58
    Journal articles | 2019
    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, 138, pp. 1013 - 1031, http://dx.doi.org/10.1007/s00401-019-02059-z
    Journal articles | 2019
    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, 90, pp. A5.3 - A6, http://dx.doi.org/10.1136/jnnp-2019-anzan.14
    Journal articles | 2019
    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, 29, pp. 913 - 919, http://dx.doi.org/10.1016/j.nmd.2019.09.013
    Journal articles | 2019
    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, 10, http://dx.doi.org/10.3389/fneur.2019.00898
    Journal articles | 2019
    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, 142, pp. E14, http://dx.doi.org/10.1093/brain/awy332
    Journal articles | 2019
    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, 41, pp. 2750 - 2757, http://dx.doi.org/10.1080/09638288.2018.1474496
    Journal articles | 2019
    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, 46, pp. S31 - S32, http://dx.doi.org/10.1017/cjn.2019.165
    Journal articles | 2019
    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, 29, pp. S183 - S183, http://dx.doi.org/10.1016/j.nmd.2019.06.512
    Journal articles | 2019
    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, 405, pp. 268 - 269, http://dx.doi.org/10.1016/j.jns.2019.10.1317
    Journal articles | 2019
    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, 90, pp. e7.1 - e7, http://dx.doi.org/10.1136/jnnp-2019-abn-2.20
    Journal articles | 2019
    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, 14, http://dx.doi.org/10.1186/s13023-019-1052-2
    Journal articles | 2018
    Castro D; Farrar M; Finkel R; Tulinius M; Krosschell K; Saito K; Zhang Y; Bhan I; Farwell W; Reyna S, 2018, 'Interim report on the safety and efficacy of longer-term treatment with nusinersen in infantile-onset spinal muscular atrophy: results from the SHINE study', NEUROMUSCULAR DISORDERS, 28, pp. S79 - S80, http://dx.doi.org/10.1016/j.nmd.2018.06.198
    Journal articles | 2018
    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, 209, pp. 217 - 221, http://dx.doi.org/10.5694/mja18.00023
    Journal articles | 2018
    Chen KA; Farrar MA; Cardamone M; Lawson J, 2018, 'Cannabis for paediatric epilepsy: challenges and conundrums', The Medical journal of Australia, 208, pp. 138 - 142, http://dx.doi.org/10.5694/mja17.00699
    Journal articles | 2018
    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, 8, pp. e020907, http://dx.doi.org/10.1136/bmjopen-2017-020907
    Journal articles | 2018
    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, 89, pp. 937 - 942, http://dx.doi.org/10.1136/jnnp-2017-317412
    Journal articles | 2018
    Fitzgerald DA; Abel F; Jones KJ; Farrar MA, 2018, 'Spinal muscular atrophy: A modifiable disease emerges', Paediatric Respiratory Reviews, 28, pp. 1 - 2, http://dx.doi.org/10.1016/j.prrv.2018.07.001
    Journal articles | 2018
    Ho G; Carey K; Cardamone M; Farrar M, 2018, 'Myotonic dystrophy type 1: clinical manifestations in children and adolescents', Archives of Disease in Childhood, 104, pp. 48 - 52, http://dx.doi.org/10.1136/archdischild-2018-314837
    Journal articles | 2018
    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, 75, pp. 980 - 988, http://dx.doi.org/10.1001/jamaneurol.2018.0963
    Journal articles | 2018
    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, 57, pp. 615 - 621, http://dx.doi.org/10.1002/mus.25968
    Journal articles | 2018
    Kariyawasam D; Carey K; Jones K; Farrar MA, 2018, 'New and developing therapies in spinal muscular atrophy', Paediatric Respiratory Reviews, 28, pp. 3 - 10, http://dx.doi.org/10.1016/j.prrv.2018.03.003
    Journal articles | 2018
    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, 141, pp. 3319 - 3330, http://dx.doi.org/10.1093/brain/awy280
    Journal articles | 2018
    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, 83, pp. 1105 - 1124, http://dx.doi.org/10.1002/ana.25241
    Journal articles | 2018
    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, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
    Journal articles | 2018
    Sampaio H; Farrar M; Al Safar A, 2018, 'LGMD AUTOSOMAL RESSESSIVE AND DOMINANT', Neuromuscular Disorders, 28, pp. S60 - S60, http://dx.doi.org/10.1016/j.nmd.2018.06.129
    Journal articles | 2018
    Sampaio H; Farrar M; Al Safar A, 2018, 'METABOLIC MYOPATHIES I', Neuromuscular Disorders, 28, pp. S112 - S112, http://dx.doi.org/10.1016/j.nmd.2018.06.315
    Journal articles | 2018
    Sampaio H; Kariyawasam D; Buckley M; Mowat D; Robinson J; Taylor P; Jones K; Farrar M, 2018, 'DUCHENNE MUSCULAR DYSTROPHY - GENETICS', Neuromuscular Disorders, 28, pp. S97 - S98, http://dx.doi.org/10.1016/j.nmd.2018.06.264
    Journal articles | 2018
    Sampaio H; Wilcken B; Farrar M, 2018, 'Screening for spinal muscular atrophy', The Medical journal of Australia, 209, pp. 147 - 148, http://dx.doi.org/10.5694/mja17.00772
    Journal articles | 2017
    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, 1, pp. 106 - 113, http://dx.doi.org/10.1016/S2352-4642(17)30013-5
    Journal articles | 2017
    Farrar MA; Lee MJ; Howells J; Andrews PI; Lin CSY, 2017, 'Burning pain: Axonal dysfunction in erythromelalgia', Pain, 158, pp. 900 - 911, http://dx.doi.org/10.1097/j.pain.0000000000000856
    Journal articles | 2017
    Farrar MA; Park SB; Vucic S; Carey KA; Turner BJ; Gillingwater TH; Swoboda KJ; Kiernan MC, 2017, 'Emerging therapies and challenges in spinal muscular atrophy', Annals of Neurology, 81, pp. 355 - 368, http://dx.doi.org/10.1002/ana.24864
    Journal articles | 2017
    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, 377, pp. 1723 - 1732, http://dx.doi.org/10.1056/NEJMoa1702752
    Journal articles | 2017
    Ho G; Widger J; Cardamone M; Farrar MA, 2017, 'Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1', Sleep Medicine, 32, pp. 92 - 96, http://dx.doi.org/10.1016/j.sleep.2016.12.005
    Journal articles | 2017
    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, 128, pp. 1166 - 1175, http://dx.doi.org/10.1016/j.clinph.2017.04.009
    Journal articles | 2017
    Kandula T; Farrar MA; Park SB; Howells J; Carey K; Lin CS, 2017, 'Maturation of motor and sensory axonal biophysical properties occurs in parallel from early childhood', JOURNAL OF THE NEUROLOGICAL SCIENCES, 381, pp. 497 - 497, http://dx.doi.org/10.1016/j.jns.2017.08.3609
    Journal articles | 2017
    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, 27, pp. S210 - S210, http://dx.doi.org/10.1016/j.nmd.2017.06.419
    Journal articles | 2017
    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, 27, pp. S211 - S211, http://dx.doi.org/10.1016/j.nmd.2017.06.421
    Journal articles | 2017
    Teoh HL; Carey K; Sampaio H; Mowat D; Roscioli T; Farrar M, 2017, 'Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy', Neural Plasticity, 2017, http://dx.doi.org/10.1155/2017/6509493
    Journal articles | 2016
    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
    Journal articles | 2016
    Farrar MA; Ho G; Widger J; Cardamone M, 2016, 'Quality of life and excessive daytime sleepiness in children and adolescents with Myotonic dystrophy type 1', Sleep Medicine, 32, pp. 92 - 96, http://dx.doi.org/10.1016/j.sleep.2016.12.005
    Journal articles | 2016
    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
    Journal articles | 2016
    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
    Journal articles | 2016
    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
    Journal articles | 2016
    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, http://dx.doi.org/10.1371/journal.pgen.1006177
    Journal articles | 2016
    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, 50, pp. 118 - 128, http://dx.doi.org/10.1016/j.ctrv.2016.09.005
    Journal articles | 2016
    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
    Journal articles | 2016
    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
    Journal articles | 2016
    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
    Journal articles | 2016
    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, 87, pp. 65 - 70, http://dx.doi.org/10.1212/WNL.0000000000002813
    Journal articles | 2016
    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
    Journal articles | 2016
    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
    Journal articles | 2016
    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, 138, http://dx.doi.org/10.1542/peds.2016-1068
    Journal articles | 2015
    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
    Journal articles | 2015
    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
    Journal articles | 2015
    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
    Journal articles | 2015
    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
    Journal articles | 2014
    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
    Journal articles | 2014
    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
    Journal articles | 2014
    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
    Journal articles | 2013
    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
    Journal articles | 2013
    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
    Journal articles | 2013
    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
    Journal articles | 2013
    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
    Journal articles | 2012
    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
    Journal articles | 2012
    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
    Journal articles | 2011
    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
    Journal articles | 2010
    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, http://dx.doi.org/10.1542/peds.2009-2930
    Journal articles | 2010
    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
    Journal articles | 2010
    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
    Journal articles | 2009
    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, http://dx.doi.org/10.1111/j.1440-1754.2009.01602.x
    Journal articles | 2009
    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
    Journal articles | 2008
    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
    Journal articles | 2008
    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, http://dx.doi.org/10.1111/j.1365-2923.2008.03146.x
  • Conference Abstracts | 2022
    Darras B; Hagenacker T; Finkel R; Mercuri E; Montes J; Kuntz N; Farrar M; Sansone V; Berger Z; MacCannell D; Shen C; Paradis A; Bohn J; Wagner J; Somera-Molina K, 2022, 'Rationale/design of the phase 3b ASCEND study of investigational higher dose nusinersen in participants with SMA previously treated with risdiplam', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, Vol. 32, pp. S86 - S86, http://dx.doi.org/10.1016/j.nmd.2022.07.185
    Conference Abstracts | 2022
    Finkel RS; Farrar MA; Vlodavets D; Servais L; Zanoteli E; Al-Muhaizea M; Nelson L; Prufer A; Wang Y; Fisher C; Gerber M; Gorni K; Kletzl H; Palfreeman L; Scalco R; Bertini E, 2022, 'RAINBOWFISH: Preliminary Efficacy and Safety Data in Risdiplam-Treated Infants with Presymptomatic SMA', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, WA, Seattle, Vol. 98, presented at Annual Meeting of the American-Academy-of-Neurology, WA, Seattle, 02 April 2022 - 07 April 2022, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000894020500235&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2022
    Gonski K; Chuang S; Teng A; Thambipillay G; Farrar M; Menezes M; Fitzgerald D, 2022, 'Respiratory outcomes before and after the introduction of nusinersen in patients with spinal muscular atrophy (Types 1-3)', in RESPIROLOGY, WILEY, Vol. 27, pp. 63 - 63, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000769654800098&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2022
    Strauss K; Muntoni F; Farrar M; Saito K; Mendell J; Servais L; McMillan H; Finkel R; Swoboda K; Kwon J; Zaidman C; Chiriboga C; Lannaccone S; Krueger J; Parsons J; Shieh P; Kavanagh S; Chand D; Tauscher-Wisniewski S; McGill B; Macek T, 2022, 'Onasemnogene Abeparvovec in Presymptomatic Spinal Muscular Atrophy (SMA): SPRINT Study Update in Children with Three Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, WA, Seattle, Vol. 98, presented at Annual Meeting of the American-Academy-of-Neurology, WA, Seattle, 02 April 2022 - 07 April 2022, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000894020500058&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2022
    Strauss K; Muntoni F; Farrar M; Saito K; Mendell J; Servals L; McMillan H; Finkel R; Swoboda K; Kwon J; Zaidman C; Chiriboga C; Iannaccone S; Krueger J; Parsons J; Shieh P; Kavanagh S; Chand D; Tauscher-Wisniewski S; McGill B; Macek T, 2022, 'Onasemnogene Abeparvovec for Presymptomatic Infants with Spinal Muscular Atrophy and Two Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, WA, Seattle, Vol. 98, presented at Annual Meeting of the American-Academy-of-Neurology, WA, Seattle, 02 April 2022 - 07 April 2022, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000894020500383&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2021
    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, Vol. 28, pp. 396 - 396, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000663065900583&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2021
    Crawford T; Swoboda K; Sumner C; Farrar M; Muntoni F; Finkel R; Mercuri E; Sohn J; Petrillo M; Chin R; Jiang X; Paradis A, 2021, 'Phosphorylated neurofilament heavy chain level is associated with future motor function in nusinersen-treated individuals with infantile-onset SMA', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, ELECTR NETWORK, Vol. 31, pp. S137 - S137, presented at Virtual Congress of the World-Muscle-Society, ELECTR NETWORK, 20 September 2021 - 24 September 2021, http://dx.doi.org/10.1016/j.nmd.2021.07.311
    Conference Papers | 2021
    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
    Conference Papers | 2021
    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
    Conference Abstracts | 2021
    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, Vol. 26, pp. 190 - 190, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000644657800360&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2021
    Servais L; Al-Muhaizea M; Farrar M; Nelson L; Prufer A; Finkel R; Wang Y; Zanoteli E; El-Khairi M; Gerber M; Gorni K; Kletzl H; Palfreeman L; Scalco R; Bertini E, 2021, 'RAINBOWFISH: A study of risdiplam in infants with presymptomatic spinal muscular atrophy (SMA)', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, ELECTR NETWORK, Vol. 31, pp. S48 - S48, presented at Virtual Congress of the World-Muscle-Society, ELECTR NETWORK, 20 September 2021 - 24 September 2021, http://dx.doi.org/10.1016/j.nmd.2021.07.021
    Conference Papers | 2021
    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
    Conference Papers | 2021
    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
    Conference Papers | 2021
    2021, 'Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders', in Pediatric Pulmonology, WILEY, Australasia; Europe, pp. 1497 - 1504, presented at Thoracic Society of Australia and New Zealand (TSANZ) Annual Scientific Meeting 2021; European Respiratory Society International Congress 2020, Australasia; Europe, 01 May 2021 - 02 May 2021, http://dx.doi.org/10.1002/ppul.25890
    Conference Papers | 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
    Conference Papers | 2020
    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
    Conference Abstracts | 2020
    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
    Conference Abstracts | 2020
    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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000534616800321&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2020
    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
    Conference Abstracts | 2019
    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, PA, Philadelphia, Vol. 92, presented at 71st Annual Meeting of the American-Academy-of-Neurology (AAN), PA, Philadelphia, 04 May 2019 - 10 May 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000475965900302&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2019
    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
    Conference Papers | 2019
    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
    Conference Presentations | 2019
    Farrar M, 2019, 'Resource allocation in rare neurological disease: should the few benefit rather than the many? Invited presentation at Australian and New Zealand Association of Neurologists Annual Scientific Meeting', presented at Australian and New Zealand Association of Neurologists Annual Scientific Meeting, Sydney, Australia
    Conference Abstracts | 2019
    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
    Conference Abstracts | 2019
    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, PA, Philadelphia, Vol. 92, presented at 71st Annual Meeting of the American-Academy-of-Neurology (AAN), PA, Philadelphia, 04 May 2019 - 10 May 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000475965906183&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2019
    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
    Conference Abstracts | 2019
    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, AUSTRALIA, Sydney, Vol. 90, presented at Annual Scientific Meeting of the Australian-and-New Zealand-Association-of-Neurologists (ANZAN), AUSTRALIA, Sydney, 21 May 2019 - 24 May 2019, http://dx.doi.org/10.1136/jnnp-2019-anzan.22
    Conference Abstracts | 2019
    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, DENMARK, Copenhagen, Vol. 29, pp. S184 - S184, presented at 24th International Annual Congress of the World-Muscle-Society (WMS), DENMARK, Copenhagen, 01 October 2019 - 05 October 2019, http://dx.doi.org/10.1016/j.nmd.2019.06.514
    Conference Papers | 2019
    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
    Conference Papers | 2019
    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
    Conference Abstracts | 2019
    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, TX, Dallas, Vol. 199, presented at International Conference of the American-Thoracic-Society, TX, Dallas, 17 May 2019 - 22 May 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000466771104303&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Presentations | 2018
    Farrar M, 2018, 'Treating spinal muscular atrophy, invited plenary presentation 42nd Human Genetics Society of Australia Annual Scientific Meeting.', presented at 42nd Human Genetics Society of Australia Annual Scientific Meeting., Sydney, Australia
    Conference Papers | 2018
    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
    Conference Papers | 2018
    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
    Conference Posters | 2018
    Sampaio H; Al Safar A; Farrar MA, 2018, '267Local experience of hyperCKaemia in a multidisciplinary neuromuscular clinic', presented at World Muscle Society
    Conference Posters | 2018
    Sampaio H; Farrar MA; AlSafar A, 2018, 'Recurrent rhabdomyolysis and subtle proximal weakness in two female siblings diagnosed with alpha sarcoglycanopathy and a review of the literature', presented at World Muscle Society
    Conference Posters | 2017
    Farrar M; Carey K; Paguinto S; Chambers G; Kasparain N, 2017, 'Counting the uncounted costs of chronic Spinal Muscular Atrophy', Boston, United States, presented at American Academy of Neurology, Boston, United States
    Conference Papers | 2017
    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
    Conference Presentations | 2017
    Farrar M, 2017, 'Australian and New Zealand Association of Neurologists Leonard Cox Award: Findings in Nerve Neverland: a neuromuscular adventure', presented at Australia and New Zeealand Association of Neurologists Annual Scientific Meeting, Australia
    Conference Presentations | 2017
    Farrar M, 2017, 'Progress and challenges in Spinal Muscular Atrophy, Invited plenary presentation.', presented at Australia and New Zealand Child Neurology Society annual scientific meeting, Australia
    Conference Papers | 2017
    Kandula T; Farrar M; Kieman 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', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000577381505376&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 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
    Conference Posters | 2017
    McNeill E; Finkel R; Darras B; Kirschner J; Farrar MA; Ryan MM; Zhong Z; Gheuens S; Farwell W, 2017, 'Nusinersen Improves Motor Function in Infants with and without Permanent Ventilation: Results from the ENDEAR Study in Infantile-Onset Spinal Muscular Atrophy', Boston, United States, presented at 69th Annual Meeting of the American Academy of Neurology, Boston, United States
    Conference Papers | 2017
    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
    Conference Posters | 2016
    Farrar M; Ho G; Carey K; Cardamone M, 2016, 'Myotonic Dystrophy Type 1: Clinical manifestations in children and adolescents', Taiwan, presented at 15th Asian and Oceanic Myology Congress and Taiwanese Child Neurology Society Annual Scientific Meeting, Taiwan
    Conference Presentations | 2016
    Farrar M, 2016, 'Australasian experiences of diagnosis, standard of care and clinical trials of spinal muscular atrophy. Invited plenary presentation', presented at 15th Asian and Oceanic Myology Congress and Taiwanese Child Nezurology Society Annual Scientific meeting, Taiwan
    Conference Abstracts | 2016
    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
    Conference Papers | 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', 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
    Conference Posters | 2016
    Roscioli T; Teoh HL; Zhu Y; Sampaio H; Mowat D; Buckley M; Farrar MA, 2016, 'Next Generation Sequencing in Spinal muscular atrophy syndromes', Kyoto, Japan, presented at 13th International Congress of Human Genetics, Kyoto, Japan
    Conference Posters | 2015
    Chew K; Farrar M; Widger J, 2015, 'THE IMPACT OF NUTRITION ON RESPIRATORY FUNCTION IN DUCHENNE MUSCULAR DYSTROPHY', AUSTRALIA, Queensland, Vol. 20, pp. 91 - 91, presented at Thoracic Society Australia New Zealand Australian New Zealand Society Respiratory Science Annual Scientific Meeting 2015, AUSTRALIA, Queensland, 27 March 2015 - 01 April 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000351464400235&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2015
    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
    Conference Papers | 2015
    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
    Conference Papers | 2014
    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
    Conference Papers | 2014
    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, GERMANY, Berlin, pp. 805 - 805, presented at 19th International Congress of the World-Muscle-Society, GERMANY, Berlin, 07 October 2014 - 11 October 2014, http://dx.doi.org/10.1016/j.nmd.2014.06.049
    Conference Papers | 2014
    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
    Conference Presentations | 2013
    Farrar M, 2013, 'Nerve excitability studies in paediatrics', presented at 9th International Paediatric EMG conference, Cambridge, United Kingdom
    Conference Papers | 2013
    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
    Conference Papers | 2013
    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
    Conference Papers | 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 Papers | 2010
    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
    Conference Posters | 2009
    Farrar M; Lin CS-Y; Krishnan AV; Park SB; Andrews PI; Kiernan MC, 2009, 'Acute, reversible axonal energy failure during a stroke-like episode in MELAS', Southport, Queensland, presented at Neurophysiology Workshop of the Australian and New Zealand Association of Neurologists, Southport, Queensland, 04 October 2009 - 07 October 2009
    Preprints |
    Akram F; Pidcock M; Oake D; Sholler GF; Farrar MA; Kasparian N, “The Usual Challenges of Work are All Magnified”:  Australian Paediatric Health Professionals’ Experiences During the COVID-19 Pandemic, , http://dx.doi.org/10.2139/ssrn.4220687
    Preprints |
    D'Silva AM; Sampaio H; Kariyawasam DST; Mowat D; Russell J; Junek Z; Jones KJ; Alexander IE; Best S; Wiley V; Farrar MA, Integrating a Pilot Newborn Screening for Spinal Muscular Atrophy Into the Australian Public Healthcare System, , http://dx.doi.org/10.2139/ssrn.3814778
    Preprints |
    Kariyawasam DST; D'Silva AM; Vetsch J; Wakefield C; Wiley V; Farrar MA, <i>'We Needed This'</i>: Perspectives of Parents and Healthcare Professionals Involved in a Pilot Newborn Screening Program for Spinal Muscular Atrophy, , http://dx.doi.org/10.2139/ssrn.3682109

2021-2027        NRMRC Investigator Grant: Improving health outcomes for neurological diseases in children with genomic technologies

2022-2027       MRFF: A national functional diagnostic program for therapy development in congenital muscle disease

2022-2026       MRFF: NEWBORN GEN SEQ TRAIL: NEWBORN GENomic SEQuencing in screening: Therapy Ready And Information for Life

 

  • 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)

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 genomics in 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, 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.