By Professor Michelle Anne Farrar

Journal articles

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

Elvidge KL; Christodoulou J; Farrar MA; Tilden D; Maack M; Valeri M; Ellis M; Smith NJC, 2023, 'The collective burden of childhood dementia: a scoping review', Brain : a journal of neurology, 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

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, pp. 1403 - 1403, 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

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

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

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

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

McMillan H; Baranello G; Farrar M; Zaidman C; Seibert J; Bernardo R; Alecu I; Freischläger F; Muntoni F, 2023, 'O20 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

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, 'P212 RAINBOWFISH: Primary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)', Neuromuscular Disorders, 33, pp. S87 - S88, http://dx.doi.org/10.1016/j.nmd.2023.07.094

Baranello G; Chiriboga C; Servais L; Darras B; Day J; Deconinck N; Farrar M; Finkel R; Bertini E; Kirschner J; Rasson M; Mazurkiewicz-Bełdzińska M; Vlodavets D; Bader-Weder S; Gorni K; Jaber B; Yeung W; Papp G; Scalco R; Mercuri E, 2023, 'P230 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

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

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

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, 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', The 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, 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

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, '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

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

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

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

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