By Professor Michelle Anne Farrar

Book Chapters

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

Journal articles

Raga S; Farrar MA, 2026, 'A decade of disease-modifying therapies for spinal muscular atrophy', Lancet Child and Adolescent Health, 10, pp. 614 - 615, http://dx.doi.org/10.1016/S2352-4642(26)00127-6

Farrar T; D’Silva A; Cardamone M; Palacios-Derflingher L; Farrar MA, 2026, 'Corrigendum to “The efficacy and safety of ketogenic diet therapy among adolescents and adults with drug resistant epilepsy: A systematic review and meta-analysis”(Seizure: European Journal of Epilepsy, (2026), 140, C, (39-51), (S1059131126001482), 10.1016/j.seizure.2026.05.018)', Seizure, 141, pp. 244 - 245, http://dx.doi.org/10.1016/j.seizure.2026.07.026

Kariyawasam DS; Baranello G; Farrar MA, 2026, 'Newborn screening for spinal muscular atrophy: time is motor neuron', Nature Reviews Neurology, 22, pp. 533 - 534, http://dx.doi.org/10.1038/s41582-026-01216-9

Farrar T; D’Silva A; Cardamone M; Palacios-Derflingher L; Farrar MA, 2026, 'The efficacy and safety of ketogenic diet therapy among adolescents and adults with drug resistant epilepsy: A systematic review and meta-analysis', Seizure, 140, pp. 39 - 51, http://dx.doi.org/10.1016/j.seizure.2026.05.018

Proud CM; Kichula EA; Matesanz SE; Kumar A; Saito K; Laverty CG; Farrar MA; Bharucha-Goebel DX; Haberlová J; Mundada V; Kwon JM; McMillan HJ, 2026, 'Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations', Journal of Neuromuscular Diseases, 13, pp. 587 - 601, http://dx.doi.org/10.1177/22143602251391258

Farah EE; Farrar MA; Kariyawasam DS; Paguinto SG, 2026, 'Strengthening adaptive functioning and participation in the contemporary spinal muscular atrophy paradigm: clinical perspectives and future directions', World Journal of Pediatrics, 22, pp. 728 - 740, http://dx.doi.org/10.1007/s12519-026-01063-0

D'Silva A; Herbert K; Balaji L; He JM; Kandula T; Sampaio HA; Teoh HL; Tantsis E; Sohn J; Briggs N; Ning N; Kiernan MC; Kariyawasam DS; Farrar MA, 2026, 'The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy', Annals of Neurology, 100, pp. 109 - 122, http://dx.doi.org/10.1002/ana.78207

Calma AD; Pavey N; Silva CS; Tsuji Y; Ghapar AA; Morris K; Kiernan MC; Farrar MA; Menon P; Vucic S, 2026, 'Utility of Far-Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy', Muscle and Nerve, 73, pp. 1089 - 1095, http://dx.doi.org/10.1002/mus.70231

Farah EE; Paguinto SG; Mandarakas MR; Herbert K; Krishan S; Sampaio H; Kariyawasam DS; Farrar MA, 2026, 'Adaptive functioning in school-aged children with spinal muscular atrophy in the treatment era: a non-randomised cohort study', Lancet Regional Health Western Pacific, 70, http://dx.doi.org/10.1016/j.lanwpc.2026.101866

Kariyawasam DS; Meagher CE; Kay A; Cairns A; Siu C; Wedlake C; Lau C; Miller C; Clark D; Webster D; Mas E; Yiu EM; Tolich F; Moore F; Crisp G; O’Grady G; Sampaio H; Pitt J; Cini J; Bhattacharya K; Greed L; Burrows L; Kava M; De Hora M; Greenslade M; Heather N; Heller R; Allcock R; Greaves R; Divanisova S; Carrivick S; Wotton T; Ware T; Wilgen U; Wiley V; Farrar MA, 2026, 'Evidence-based multidisciplinary model of care for newborn screening in spinal muscular atrophy', Genetics in Medicine, 28, http://dx.doi.org/10.1016/j.gim.2026.102560

Krosschell KJ; Young SD; Maczek E; Brown L; Hoffman K; Galli CC; Lofra RM; Coratti G; Burk MM; Townsend EL; Kelley C; Weigel C; Civitello M; Kanner CH; McIntyre M; Nelson L; Rao V; Castro D; Farrar M; Kuntz NL; Apkon SD; Zolkipli-Cunningham Z; Group FTN-SW, 2026, 'Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA', Journal of Neuromuscular Diseases, pp. 22143602261433638, http://dx.doi.org/10.1177/22143602261433638

Lim NY; Meagher CE; Bye A; Lorentzos M; Dale RC; Mohammad S; Howell KB; Palmer EE; Woodcock IR; Macdonald-Laurs E; Preisz A; Badawi N; Cooper ST; Hille SC; Trahair TN; Cairns A; Smith N; Farrar MA; Kariyawasam DS, 2026, 'Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders', Neurotherapeutics, 23, http://dx.doi.org/10.1016/j.neurot.2026.e00921

Wirth B; Das J; Kölbel H; Goh S; Farrar MA; Piano V; Zetzsche S; Fuhrmann N; Becker J; Karakaya M; Zhang Y; Cao Y; Taghipour-Sheshdeh A; Stringer BW; Giacomotto J, 2026, 'SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions', American Journal of Human Genetics, 113, pp. 627 - 635, http://dx.doi.org/10.1016/j.ajhg.2026.01.012

Gómez-Andrés D; Farrar MA; Alvarez-Molinero M; Garcia-Uzquiano R; Brusa C; Baranello G; Quijano-Roy S, 2026, '285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January - 2nd February 2025, Hoofddorp, The Netherlands', Neuromuscular Disorders, 60, http://dx.doi.org/10.1016/j.nmd.2025.106331

Akram F; Webb AE; Pidcock M; Sholler GF; Weatherall A; Reiter-Purtill J; Farrar MA; Kasparian NA, 2026, 'When the stakes are high and the supports are low: Emotional exhaustion among health professionals working in paediatric cardiac care', Cardiology in the Young, 36, pp. 444 - 451, http://dx.doi.org/10.1017/S1047951125111098

Balaji L; Kariyawasam DS; Herbert K; Sampaio HA; Tantsis E; Farrar MA, 2026, 'Behavioral and Emotional Challenges in Children With Spinal Muscular Atrophy', Pediatric Neurology, 175, pp. 81 - 87, http://dx.doi.org/10.1016/j.pediatrneurol.2025.10.029

Dale RC; Elbourne M; Hofer MJ; Patel S; Mohammad S; Han VX; Yu J; Fu S; D'Silva A; Farrar MA; Bandodkar S; Yan JJ, 2026, 'Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut–brain endothelial dysfunction', Clinical and Translational Immunology, 15, http://dx.doi.org/10.1002/cti2.70074

Stringer BW; Zhang Y; Taghipour-Sheshdeh A; Goh S; Kölbel H; Farrar MA; Wirth B; Giacomotto J, 2026, 'Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA', EMBO Molecular Medicine, 18, pp. 41 - 54, http://dx.doi.org/10.1038/s44321-025-00355-8

Dale RC; Hayes J; Han VX; Dissanayake R; Lau X; Farrar M; Gloss B; Hofer M; Tantsis E; Lorentzos M; Abbas S; Crow YJ; Mohammad S; Patel S, 2026, 'Early brain-penetrant immunotherapy reverses interferon signature and improves motor outcome in a case of ADAR1-related Aicardi-Goutières syndrome', Clinical and Translational Immunology, 15, http://dx.doi.org/10.1002/cti2.70113

Briest RC; Bhatia KD; Miteff C; Cheung A; Antony J; Ardern-Holmes S; Bye A; Cardamone M; Chan DL; Dale R; Farrar M; Gill D; Gupta S; Johnson A; Kandula T; Lawson J; Manning N; McQuinn A; Menezes MP; Miteff F; Pillai S; Sampaio H; Smith RL; Subramanian GM; Teoh HL; Troedson C; Webster R; Wenderoth J; Whitley J; Andrews PI, 2026, 'Eligibility for Thrombolysis for Pediatric Acute Ischemic Stroke', Stroke, pp. 1 - 10, http://dx.doi.org/10.1161/STROKEAHA.125.054223

Barnacoat JM; Bani Uraba W; Hadi D; Stewart K; Lewis J; Coombes S; Waugh MC; Farrar MA; Owler B; Mahant N; Dale RC; Paget S; Mohammad SS, 2026, 'Implementation of Paediatric Deep Brain Stimulation: Experience from an Australian Tertiary Centre', Journal of Child Neurology, http://dx.doi.org/10.1177/08830738261435155

Nevin SM; Kelada L; Elvidge KL; Maack M; Hilton G; Kershaw J; Da Ros E; Briggs NE; Farrar MA; Wakefield CE, 2026, 'Navigating the complex landscape of childhood dementia: caregiver psychological well-being, grief, and health system challenges', Journal of Pediatric Psychology, 51, pp. 60 - 72, http://dx.doi.org/10.1093/jpepsy/jsaf095

Berry JG; Taranath A; Goetti R; Farrar MA; Fiori S; Pham HD; Mittinty MN; Corbett MA; Palmer LJ; Fornarino DL; Harper K; Gibson CS; Leishman SJ; Goldsmith SC; McIntyre SJ; Montgomerie A; Pilkington RM; Lynch JW; Russo RN; Fahey MC; Fripp J; Boyd RN; Wright MJ; Rice JE; Waugh MC; MacLennan AH; Gecz J; van Eyk CL, 2025, 'Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study', Ebiomedicine, 122, http://dx.doi.org/10.1016/j.ebiom.2025.106013

Mietzsch M; Hsi J; Nelson AR; Khandekar N; Huang AM; Smith NJC; Zachary J; Potts L; Farrar MA; Chipman P; Ghanem M; Alexander IE; Logan GJ; Huiskonen JT; McKenna R, 2025, 'Structural characterization of antibody-responses following Zolgensma treatment for AAV capsid engineering to expand patient cohorts', Nature Communications, 16, http://dx.doi.org/10.1038/s41467-025-59088-4

Tantsis EM; Mohammad SS; Paget SP; Virella-Perez YI; Han VX; Hadi D; Goldman C; Farrar MA; Fahey M; Dale RC; Alba-Concepcion K; Amor DJ; Tajudin TA; Badawi N; Barnes E; Bennetts B; Pazi HB; Ebrahimi-Fakhari D; Fehlings D; Ferriero DM; Friedman J; Gecz J; Ho G; Gupta S; Hunt RW; Kothur K; Kruer M; Kurian MA; Kyriagis M; Lee WT; McIntyre S; Méneret A; Mink JW; Morgan C; Morrow A; Nardocci N; Pagliano E; Palmer EE; Pearson TS; Pérez-Dueñas B; Roze E; Shevell M; te Velde A; Waugh MC; Willemsen MA; Wilson YA, 2025, 'Genetic testing in cerebral palsy with clinical and neuroimaging variables', Developmental Medicine and Child Neurology, 67, pp. 1443 - 1452, http://dx.doi.org/10.1111/dmcn.16323

Calma AD; Pavey N; Silva CS; Tsuji Y; Van den Bos MAJ; Farrar MA; Menon P; Vucic S, 2025, 'Clinical Utility of Far-Field Potentials in Amyotrophic Lateral Sclerosis', Muscle and Nerve, 72, pp. 616 - 624, http://dx.doi.org/10.1002/mus.28480

Calma AD; Vucic S; Farrar MA, 2025, 'The evolving landscape of spinal muscular atrophy treatment', Lancet Neurology, 24, pp. 714 - 715, http://dx.doi.org/10.1016/S1474-4422(25)00268-6

Finkel RS; Servais L; Vlodavets D; Zanoteli E; Mazurkiewicz-Bełdzińska M; Jong YJ; Navas-Nazario A; Al-Muhaizea M; Araujo APQC; Nelson L; Wang Y; Jaber B; Gorni K; Kletzl H; Palfreeman L; Rabbia M; Summers D; Gaki E; Wagner KR; Fontoura P; Farrar MA; Bertini E, 2025, 'Risdiplam in Presymptomatic Spinal Muscular Atrophy', New England Journal of Medicine, 393, pp. 671 - 682, http://dx.doi.org/10.1056/NEJMoa2410120

Innes EA; Han VX; Patel S; Farrar MA; Gill D; Mohammad SS; Dale RC, 2025, 'Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review', Developmental Medicine and Child Neurology, 67, pp. 1004 - 1025, http://dx.doi.org/10.1111/dmcn.16273

Kirk E; Mundy L; Lee E; Lundie B; Laing N; Archibald AD; Newson AJ; Mina K; Carpenter K; Neas K; King R; Ferrie M; Lunke S; Boughtwood T; Delatycki MB; Emery J; Mountain H; Hui L; Dive L; Farrar MA; Massie J, 2025, 'Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy', Pathology, 57, pp. 539 - 545, http://dx.doi.org/10.1016/j.pathol.2025.02.004

Farrar MA; Mandarakas M; Briggs N; Cairns AG; Herbert K; Junek Z; Kandula T; Russell J; Sampaio H; Kariyawasam D, 2025, 'Gestational Age at Birth and Clinical Manifestations of Spinal Muscular Atrophy', Neurology, 105, http://dx.doi.org/10.1212/WNL.0000000000213799

Djafar J; Nevin S; Smith N; Ardern-Holmes S; Bhattacharya K; Dale R; Ellaway C; Grattan S; Johnson A; Kandula T; Kariyawasam DS; Lewis K; Meagher CE; Mohammad S; Farrar MA, 2025, ''Fighting every day': Exploring caregiver quality of life and perspectives on healthcare services for children with dementia - A cross-sectional, mixed-methods study', Archives of Disease in Childhood, 110, pp. 566 - 572, http://dx.doi.org/10.1136/archdischild-2024-328011

Sandelowsky SA; McEwen A; Russell J; Boggs K; Junek R; Ellaway C; Selvanathan A; Farrar MA; Bhattacharya K, 2025, 'An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening', International Journal of Neonatal Screening, 11, http://dx.doi.org/10.3390/ijns11020032

Calma AD; Pavey N; Silva CS; van den Bos MAJ; Yiannikas C; Farrar MA; Kiernan MC; Menon P; Vucic S, 2025, 'Diagnostic utility of threshold tracking TMS paradigms in early amyotrophic lateral sclerosis', Clinical Neurophysiology, 174, pp. 105 - 113, http://dx.doi.org/10.1016/j.clinph.2025.03.044

Palmer EE; Recsei K; McKnight L; Roberts N; Baynam G; Zurynski Y; Farrar M; Healy L; Millis N; Jaffe A, 2025, '“You get left behind and lost in a complex world of rare care”: equity in access to rare disease care—learnings from the Australian Rare Disease Awareness, Education, Support, and Training (RArEST) project', Ebiomedicine, 115, http://dx.doi.org/10.1016/j.ebiom.2025.105710

Balaji L; Farrar MA; Yiu EM; Kariyawasam D, 2025, 'A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research', Journal of Neuromuscular Diseases, 12, pp. 312 - 329, http://dx.doi.org/10.1177/22143602241313113

Cardamone M; Banuelos R; Beavis E; Marne FL; Rowe N; Gao Y; Menzies J; Farrar MA, 2025, 'Parental perspectives on dietary therapy for children with intractable epilepsy: factors influencing efficacy, tolerability and compliance', Journal of Neurology & Stroke, 15, pp. 22 - 27, http://dx.doi.org/10.15406/jnsk.2025.15.00616

Meagher CE; Kariyawasam DS; Concepcion KAE; Dale R; Hetherington K; Mohammad S; Palmer EE; Woolfenden S; Farrar MA, 2025, 'Codesign and evaluation of advanced therapeutic information resources for and with families of children with neurological conditions: A mixed methods cross-sectional study', Archives of Disease in Childhood, 110, pp. 308 - 315, http://dx.doi.org/10.1136/archdischild-2024-327914

Coppens S; Deconinck N; Sullivan P; Smolnikov A; Clayton JS; Griffin KR; Jones KJ; Vilain CN; Kadhim H; Bryen SJ; Faiz F; Waddell LB; Evesson FJ; Bakshi M; Pinner JR; Charlton A; Brammah S; Graf NS; Krivanek M; Tay CG; Foulds NC; Illingworth MA; Thomas NH; Ellard S; Mazanti I; Park SM; French CE; Brewster J; Belteki G; Hoodbhoy S; Allinson K; Krishnakumar D; Baynam G; Wood BM; Ward M; Vijayakumar K; Syed A; Murugan A; Majumdar A; Scurr IJ; Splitt MP; Moldovan C; de Silva DC; Senanayake K; Gardeitchik T; Arens Y; Cooper ST; Laing NG; Raymond FL; Jungbluth H; Kamsteeg EJ; Manzur A; Corley SM; Ravenscroft G; Wilkins MR; Cowley MJ; Pinese M; Ferreiro A; Richard I; Bönnemann CG; Donkervoort S; Luk HM; Sampaio H; Farrar MA; Mowat D; Fitzsimons RB; Vuillerot C; Phadke R; Davis MR; Muntoni F; Oates EC, 2025, 'Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum', Annals of Neurology, 97, pp. 611 - 628, http://dx.doi.org/10.1002/ana.27087

D'Silva A; Barnes J; Djafar J; Bhattacharya K; Yan J; Mohammad S; Bandodkar S; Johnson A; Tchan M; Miteff C; Elvidge KL; Dale RC; Farrar M, 2025, 'Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials', Neurotherapeutics, 22, http://dx.doi.org/10.1016/j.neurot.2025.e00546

Elvidge KL; Farrar MA; Christodoulou J; Kava MP; Johnson AM; Patterson MC; Jones SA; Zuberi S; Wilmshurst JM; Smith NJC, 2025, 'Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action', Pediatric Neurology, 164, pp. A6 - A7, http://dx.doi.org/10.1016/j.pediatrneurol.2025.02.005

Mandarakas M; Farrar M, 2025, 'Measuring Broad and Meaningful Impacts With Patient-Reported Outcomes in Spinal Muscular Atrophy as a Framework for Neuromuscular Disorders', Muscle and Nerve, 71, pp. 287 - 289, http://dx.doi.org/10.1002/mus.28335

Scarfe J; Turner A; Meagher C; Farrar MA; Bhattacharya K; Paguinto SG; Millis N; Watson J; Kariyawasam DS; Norris S, 2025, '“Jumping too far ahead”: Australian healthcare professional, scientist, and policy maker perspectives on using genomics in newborn screening', European Journal of Human Genetics, http://dx.doi.org/10.1038/s41431-025-01954-2

Paguinto SG; Meagher C; Scarfe J; Bhattacharya K; Pandithan D; Turner A; Watson J; Norris S; Farrar MA; Kariyawasam DS, 2025, '“The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care', European Journal of Human Genetics, http://dx.doi.org/10.1038/s41431-025-01971-1

Elvidge KL; Farrar MA; Christodoulou J; Kava MP; Johnson AM; Patterson MC; Jones SA; Zuberi S; Wilmshurst JM; Smith NJC, 2025, 'Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action', Journal of Child Neurology, 40, pp. 501 - 503, http://dx.doi.org/10.1177/08830738251331359

Balaji L; Kariyawasam D; Herbert K; Sampaio HA; Cairns A; McGill BC; Kelada L; Woolfenden S; Briggs N; Farrar MA, 2025, 'Neurodevelopmental screening in children with early-onset spinal muscular atrophy in the treatment era: A strengths-based cohort study', Brain Communications, 7, http://dx.doi.org/10.1093/braincomms/fcaf272

Mazurkiewicz-Bełdzińska M; Finkel R; Servais L; Farrar M; Vlodavets D; Zanoteli E; Al-Muhaizea M; Araújo A; Nelson L; Kuthiala M; Gorni K; Kletzl H; Palfreeman L; Gaki E; Rabbia M; Summers D; Manfrini M; Bertini E; Group OBOTRS, 2025, '423PRAINBOWFISH: 3-year efficacy and safety data of risdiplam in infants with presymptomatic spinal muscular atrophy (SMA)', Neuromuscular Disorders, 53, pp. 105586, http://dx.doi.org/10.1016/j.nmd.2025.105586

Innes EA; Han VX; Patel S; Farrar MA; Gill D; Mohammad SS; Dale RC, 2025, 'Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review', DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 67, pp. 1004 - 1025, http://dx.doi.org/10.1111/dmcn.16273

McMillan HJ; Baranello G; Farrar MA; Zaidman CM; Moreno T; De Waele L; Jong YJ; Laugel V; Quijano-Roy S; Mercuri E; Chien YH; Straub V; Darras BT; Seibert J; Bernardo Escudero R; Alecu I; Freischläger F; Muntoni F, 2024, 'Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients with Spinal Muscular Atrophy: The Phase 3b SMART Study', Neurology, 104, http://dx.doi.org/10.1212/WNL.0000000000210268

Back to profile page