By Professor Michelle Anne Farrar

Journal articles

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, http://dx.doi.org/10.3390/pharmaceutics15010170

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

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

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

Elvidge KL; Christodoulou J; Farrar MA; Tilden D; Maack M; Valeri M; Ellis M; Smith NJC, 2023, 'Childhood dementia: the collective impact and opportunities for intervention', Alzheimer's & Dementia, 19, http://dx.doi.org/10.1002/alz.082583

Sumner C; Youn B; Farrar M; Tichler B; Berger Z; Zhu C; Paradis A, 2023, 'Longitudinal changes in compound muscle action potential and their association with motor function in infantile-onset SMA children in ENDEAR/SHINE', NEUROMUSCULAR DISORDERS, 33, pp. S91 - S91, http://dx.doi.org/10.1016/j.nmd.2023.07.107

Finkel R; Farrar M; Servais L; Vlodavets D; Zanoteli E; Al-Muhaizea M; Prufer A; Nelson L; Fischer C; Gerber M; Gorni K; Kletzl H; Palfreeman L; Gaki E; Fontoura P; Bertini E, 2023, 'RAINBOWFISH: Primary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)', NEUROMUSCULAR DISORDERS, 33, pp. S88 - S88, http://dx.doi.org/10.1016/j.nmd.2023.07.094

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', NEUROMUSCULAR DISORDERS, 33, pp. 531 - 538, http://dx.doi.org/10.1016/j.nmd.2023.04.007

McMillan H; Baranello G; Farrar M; Zaidman C; Seibert J; Bernardo R; Alecu I; Freischlager F; Muntoni F, 2023, 'Safety and efficacy of intravenous onasemnogene abeparvovec in patients with spinal muscular atrophy: interim findings from the phase 3 SMART study', NEUROMUSCULAR DISORDERS, 33, pp. S191 - S191, http://dx.doi.org/10.1016/j.nmd.2023.07.489

Baranello G; Chiriboga C; Servais L; Darras B; Day J; Deconinck N; Farrar M; Finkel R; Bertini E; Kirschner J; Rasson M; Mazurkiewicz-Beldzinska M; Vlodavets D; Bader-Weder S; Gorni K; Jaber B; Yeung W; Papp G; Scalco R; Mercuri E, 2023, 'Safety update: Risdiplam clinical trial program for spinal muscular atrophy (SMA)', NEUROMUSCULAR DISORDERS, 33, pp. S92 - S93, http://dx.doi.org/10.1016/j.nmd.2023.07.112

Nguyen CQ; Kariyawasam D; Alba-Concepcion K; Grattan S; Hetherington K; Wakefield CE; Woolfenden S; Dale RC; Palmer EE; Farrar MA; Concepcion K, 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

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

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

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

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

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, pp. 44, http://dx.doi.org/10.3390/ijns8030044

Markati T; Oskoui M; Farrar MA; Duong T; Goemans N; Servais L, 2022, 'Emerging therapies for Duchenne muscular dystrophy', Lancet Neurology, 21, pp. 814 - 829, http://dx.doi.org/10.1016/S1474-4422(22)00125-9

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, pp. 45, http://dx.doi.org/10.3390/ijns8030045

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

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

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

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

Strauss K; Muntoni F; Farrar M; Saito K; Mendell J; Servais 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 (S39.004)', Neurology, 98, http://dx.doi.org/10.1212/wnl.98.18_supplement.1484

Strauss K; Muntoni F; Farrar M; Saito K; Mendell J; Servais 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 in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with Three Copies of SMN2 (P15-5.001)', Neurology, 98, http://dx.doi.org/10.1212/wnl.98.18_supplement.2661

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 (P17-5.003)', Neurology, 98, http://dx.doi.org/10.1212/wnl.98.18_supplement.1636

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

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

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

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

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

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

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

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

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

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

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, '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

Chiriboga C; Servais L; Baranello G; Darras B; Day J; Deconinck N; Farrar M; Finkel R; Bertini E; Kirschner J; Masson R; Mazurkiewicz-Beldzinska M; Vlodavets D; Bader-Weder S; Gorni K; Jaber B; McIver T; Papp G; Scalco R; Mercuri E, 2022, 'Safety update: Risdiplam clinical trial development program', NEUROMUSCULAR DISORDERS, 32, pp. S89 - S89, http://dx.doi.org/10.1016/j.nmd.2022.07.198

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

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

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

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

Kariyawasam DST; Farrar MA, 2021, 'Spinal muscular atrophy: A new treatment paradigm of proactive care', Medicine Today, 22, pp. 55 - 60

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

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

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

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

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 (4190)', Neurology, 96, http://dx.doi.org/10.1212/wnl.96.15_supplement.4190

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 (4163)', Neurology, 96, http://dx.doi.org/10.1212/wnl.96.15_supplement.4163

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) (2248)', Neurology, 96, http://dx.doi.org/10.1212/wnl.96.15_supplement.2248

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) (4281)', Neurology, 96, http://dx.doi.org/10.1212/wnl.96.15_supplement.4281

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