Select Publications

Book Chapters

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

Journal articles

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, vol. 17, http://dx.doi.org/10.1186/s13023-022-02317-6

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, vol. 26, pp. 96 - 97, http://dx.doi.org/10.1016/j.omtm.2022.06.005

Markati T; Oskoui M; Farrar MA; Duong T; Goemans N; Servais L, 2022, 'Emerging therapies for Duchenne muscular dystrophy.', Lancet Neurol, http://dx.doi.org/10.1016/S1474-4422(22)00125-9

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, vol. 28, pp. 1390 - 1397, http://dx.doi.org/10.1038/s41591-022-01867-3

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, vol. 28, pp. 1381 - 1389, http://dx.doi.org/10.1038/s41591-022-01866-4

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, vol. 64, pp. 753 - 761, http://dx.doi.org/10.1111/dmcn.15135

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, vol. 93, pp. 530 - 538, http://dx.doi.org/10.1136/jnnp-2021-328483

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, vol. 64, pp. 625 - 632, http://dx.doi.org/10.1111/dmcn.15117

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, http://dx.doi.org/10.1002/ppul.25890

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, vol. 51, pp. 131 - 135

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, vol. 9, pp. 339 - 350, http://dx.doi.org/10.1002/acn3.51519

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, vol. 36, pp. 181 - 190, http://dx.doi.org/10.1007/s40263-022-00899-0

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, vol. 600, pp. 95 - 109, http://dx.doi.org/10.1113/JP282249

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, vol. 32, pp. e1, http://dx.doi.org/10.1016/j.nmd.2022.01.002

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, http://dx.doi.org/10.1111/dmcn.15289

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, http://dx.doi.org/10.1038/s41431-022-01138-2

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, http://dx.doi.org/10.1080/14712598.2022.2066471

Davidson JE; Farrar MA, 2022, 'The changing therapeutic landscape of spinal muscular atrophy', Australian Journal of General Practice, vol. 51, pp. 38 - 42, http://dx.doi.org/10.31128/AJGP-03-21-5924

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, vol. 64, pp. 413 - 427, http://dx.doi.org/10.1002/mus.27363

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, vol. 39, pp. 54 - 60, http://dx.doi.org/10.1016/j.prrv.2020.09.002

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

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

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

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

Boulton KA; Coghill D; Silove N; Pellicano E; Whitehouse AJO; Bellgrove MA; Rinehart NJ; Lah S; Redoblado‐Hodge M; 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 Advances, vol. 1, http://dx.doi.org/10.1002/jcv2.12048

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, vol. 31, pp. S133 - S133, http://dx.doi.org/10.1016/j.nmd.2021.07.299

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, '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

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

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, vol. 30, pp. S124 - S124, http://dx.doi.org/10.1016/j.nmd.2020.08.265

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

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

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

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

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

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

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

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


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