By Professor Michelle Anne Farrar

Journal articles

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

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; Zurynski Y; 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

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, pp. 32 - 32, http://dx.doi.org/10.3390/ijns11020032

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

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.', J Neuromuscul Dis, pp. 22143602241313113, http://dx.doi.org/10.1177/22143602241313113

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

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, pp. archdischild-2024-328011, http://dx.doi.org/10.1136/archdischild-2024-328011

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, http://dx.doi.org/10.1111/dmcn.16273

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, http://dx.doi.org/10.1177/08830738251331359

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, http://dx.doi.org/10.1111/dmcn.16323

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, http://dx.doi.org/10.1016/j.pathol.2025.02.004

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

Balaji L; Forbes R; Cairns A; Sampaio H; Kornberg AJ; Sanders L; Lamont P; Liang C; Jones KJ; Nowak K; O'Gorman C; Woodcock I; Briggs N; Yiu EM; Farrar MA; Kariyawasam D, 2024, 'A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study', The Lancet Regional Health - Western Pacific, 53, http://dx.doi.org/10.1016/j.lanwpc.2024.101237

Goedeker NL; Rogers A; Fisher M; Arya K; Brandsema JF; Farah H; Farrar MA; Felker MV; Gibbons M; Hamid OA; Harmelink M; Herbert K; Kichula E; King K; Lakhotia A; Lee BH; Kuntz NL; Parsons J; Rehborg R; Veerapaniyan A; Zaidman CM, 2024, 'Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study', Muscle and Nerve, 70, pp. 1247 - 1256, http://dx.doi.org/10.1002/mus.28267

Kirk EP; Delatycki MB; Archibald AD; Tutty E; Caruana J; Halliday JL; Lewis S; McClaren BJ; Newson AJ; Dive L; Best S; Long JC; Braithwaite J; Downes MJ; Scuffham PA; Massie J; Barlow-Stewart K; Kulkarni A; Ruscigno A; Kanga-Parabia A; Rodrigues B; Bennetts BH; Ebzery C; Hunt C; Cliffe CC; Lee C; Azmanov D; King EA; Madelli EO; Zhang F; Danos I; Liebelt J; Fletcher J; Kennedy J; Beilby J; Emery JD; McGaughran J; Marum JE; Scarff K; Fisk K; Harrison K; Boggs K; Giameos L; Fitzgerald L; Thomas L; Burnett L; Freeman L; Harris M; Berbic M; Davis MR; Ochoa MC; Wallis M; Wall M; Chow MTM; Ferrie MM; Pachter N; Quayum N; Lang N; Pandy PK; Casella R; Allcock RJN; Ong R; Edwards S; Sundercombe S; Jelenich S; Righetti S; Lunke S; Kaur S; Stock-Myer S; Eggers S; Walker SP; Theodorou T; Catchpool T; Clinch T; Roscioli T; Hardy T; Zhu Y; Fehlberg Z; Boughtwood TF; Laing NG, 2024, 'Nationwide, Couple-Based Genetic Carrier Screening', New England Journal of Medicine, 391, pp. 1877 - 1889, http://dx.doi.org/10.1056/NEJMoa2314768

Akram F; Webb AE; Pidcock M; Farrar MA; Kasparian NA, 2024, 'Clinician Perceptions of Family-Centered Care in Pediatric and Congenital Heart Settings', JAMA Network Open, 7, http://dx.doi.org/10.1001/jamanetworkopen.2024.22104

Nguyen CQ; Kariyawasam DST; Ngai TSJ; Nguyen J; Alba-Concepcion K; Grattan SE; Palmer EE; Hetherington K; Wakefield CE; Dale RC; Woolfenden S; Mohammad S; Farrar MA, 2024, '‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases', Health Expectations, 27, http://dx.doi.org/10.1111/hex.14063

Servais L; Farrar M; Finkel R; Vlodavets D; Zanoteli E; Al-Muhaizea M; de Queiroz Campos Araújo AP; Nelson L; Jaber B; Gorni K; Kletzl H; Palfreeman L; Gaki E; Rabbia M; Summers D; Fontoura P; Bertini E, 2024, 'RAINBOWFISH: Primary Efficacy and Safety Data in Risdiplam-treated Infants with Presymptomatic Spinal Muscular Atrophy (SMA) (S37.006)', Neurology, 102, http://dx.doi.org/10.1212/wnl.0000000000205694

Billich N; Bray P; Truby H; Evans M; Ryan MM; Carroll K; de Valle K; Villano D; Kornberg A; Sowerby B; Farrar MA; Menezes MP; Holland S; Lindeback R; Cairns A; Davidson ZE, 2024, 'Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy', Muscle and Nerve, 69, pp. 448 - 458, http://dx.doi.org/10.1002/mus.28062

Ji C; Kariyawasam DS; Sampaio H; Lorentzos M; Jones KJ; Farrar MA, 2024, 'Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders', The Lancet Regional Health - Western Pacific, 45, http://dx.doi.org/10.1016/j.lanwpc.2024.101049

Kariyawasam DS; Scarfe J; Meagher C; Farrar MA; Bhattacharya K; Carter SM; Newson AJ; Otlowski M; Watson J; Millis N; Norris S, 2024, '‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives', PLoS ONE, 19, pp. 1 - 13, http://dx.doi.org/10.1371/journal.pone.0299336

Farrar MA; Kariyawasam DS, 2024, 'Deciphering spinal muscular atrophy: the need for more research', The Lancet Neurology, 23, pp. 134 - 136, http://dx.doi.org/10.1016/S1474-4422(23)00502-1

Armengol VD; Darras BT; Abulaban AA; Alshehri A; Barisic N; Ben-Omran T; Bernert G; Castiglioni C; Chien YH; Farrar MA; Kandawasvika G; Khadilkar S; Mah J; Marini-Bettolo C; Osredkar D; Pfeffer G; Piazzon FB; Castellano IP; Quijano-Roy S; Saito K; Shin JH; Vázquez-Costa JF; Walter MC; Wanigasinghe J; Xiong H; Griggs RC; Roy B, 2024, 'Life-Saving Treatments for Spinal Muscular Atrophy Global Access and Availability', Neurology: Clinical Practice, 14, http://dx.doi.org/10.1212/CPJ.0000000000200224

Farrar TE; D'Silva A; Cardamone M; Bartley ML; Wong CH; Farrar MA, 2024, 'Clinician Understanding, Acceptance and utilization of Ketogenic diet therapy for epilepsy in Australia and New Zealand: An online survey', Epilepsy and Behavior Reports, 28, http://dx.doi.org/10.1016/j.ebr.2024.100711

Paguinto SG; Kasparian NA; Carroll K; Thomas N; Bray P; Farrar MA, 2024, 'Getting Wheels: development and evaluation of a psychoeducational resource for parents of children with a neuromuscular condition following recommendation of wheelchair equipment', Disability and Rehabilitation: Assistive Technology, 19, pp. 2630 - 2640, http://dx.doi.org/10.1080/17483107.2024.2310282

Baranello G; Roy SQ; Servais L; Munell F; Molinero MA; Natera de Benito D; Nascimento A; Gomez-Andres D; Comellas LC; Exposito J; Tizzano EF; Cuppen I; Van der Pol L; Aleman A; Lochmuller H; McMillan H; Kirschner J; Müller C; Oskoui M; Masson R; Bruno C; Gonorazky HD; Tesi-Rocha C; Yaworski AM; Zanoteli E; Mendonca R; D'Amico A; Cumbo F; Tosi M; Pane M; Mercuri E; Nardes F; Prufer A; Arci BK; Pascual SI; Fattal-Valevski A; De Waele L; Deconinck N; Farrar M; Haberlova J; Gomez-Garcia de la Banda M; Childs AM; Martos C; Wraige E; Gowda V; Illingworth M; Ong M; Majundar A; Hughes I; Torne K; Willis T; Ramdas S; De Goede C; Erbas Y; Brusa C; Scoto M; Muntoni F, 2024, 'The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy', European Journal of Paediatric Neurology, 48, pp. 67 - 68, http://dx.doi.org/10.1016/j.ejpn.2023.11.006

Darras B; Farrar M; Mercuri E; Strauss K; Day J; Chien Y; Masson R; Bernardo R; Alecu I; Dodd N; Mehl L; Connolly A, 2024, '179P Intravenous and intrathecal onasemnogene abeparvovec gene therapy in symptomatic and presymptomatic SMA: long-term follow-up study', Neuromuscular Disorders, 43, pp. 104441.614 - 104441.614, http://dx.doi.org/10.1016/j.nmd.2024.07.623

Djafar JV; Smith NJ; Johnson AM; Bhattacharya K; Ardern-Holmes SL; Ellaway C; Dale RC; D'Silva AM; Kariyawasam DS; Grattan S; Kandula T; Lewis K; Mohammed SS; Farrar MA, 2023, 'Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers', Pediatric Neurology, 149, pp. 75 - 83, http://dx.doi.org/10.1016/j.pediatrneurol.2023.09.006

Farrar MA; Calotes-Castillo L; De Silva R; Barclay P; Attwood L; Cini J; Ferrie M; Kariyawasam DS, 2023, 'Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective', Molecular and Cellular Pediatrics, 10, http://dx.doi.org/10.1186/s40348-023-00171-5

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, http://dx.doi.org/10.1186/s13023-023-02859-3

Kiernan MC; Farrar MA, 2023, 'Emerging role for sphingolipids in the genetics of amyotrophic lateral sclerosis', Journal of Neurology, Neurosurgery and Psychiatry, 95, pp. 101 - 102, http://dx.doi.org/10.1136/jnnp-2023-332719

Ji C; Farrar MA; Norris S; Bhattacharya K; Bennetts B; Newson AJ; Healy L; Millis N; Kariyawasam DS, 2023, 'The Australian landscape of newborn screening in the genomics era', Rare Disease and Orphan Drugs Journal, 2, http://dx.doi.org/10.20517/rdodj.2023.30

McMillan H; Baranello G; Farrar M; Zaidman C; Seibert J; Bernardo R; Alecu I; Freischläger F; Heese B; Muntoni F, 2023, 'Safety and Efficacy of Intravenous Onasemnogene Abeparvovec in Patients with Spinal Muscular Atrophy: Interim Findings from the Phase 3 SMART Study', Neuropediatrics, 54, pp. s1 - s32, http://dx.doi.org/10.1055/s-0043-1777167

Elvidge KL; Christodoulou J; Farrar MA; Tilden D; Maack M; Valeri M; Smith NJC; Ellis M, 2023, 'The collective burden of childhood dementia: a scoping review', Brain, 146, pp. 4446 - 4455, http://dx.doi.org/10.1093/brain/awad242

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

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, 64, pp. 327 - 336, http://dx.doi.org/10.1002/jmd2.12389

Farrar MA; Kiernan MC; Kariyawasam DS, 2023, 'Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology', Brain, 146, pp. E65 - E66, http://dx.doi.org/10.1093/brain/awad061

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

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

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

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, http://dx.doi.org/10.3390/genes14071403

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

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', International Journal of Cardiology Congenital Heart Disease, 11, http://dx.doi.org/10.1016/j.ijcchd.2022.100434

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

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

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

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