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Journal articles

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,

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,

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,

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,

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,

Farrar MA; Kariyawasam DS, 2024, 'Deciphering spinal muscular atrophy: the need for more research', The Lancet Neurology, 23, pp. 134 - 136,

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,

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,

Armengol VD; Darras BT; Abulaban AA; Alshehri A; Barisic N; Ben-Omran T; Bernert G; Castiglioni C; Chien Y-H; Farrar MA; Kandawasvika G; Khadilkar S; Mah J; Marini-Bettolo C; Osredkar D; Pfeffer G; Piazzon FB; Pitarch Castellano I; Quijano-Roy S; Saito K; Shin J-H; 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.', Neurol Clin Pract, 14, pp. e200224,

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,

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,

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,

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,

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,

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,

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,

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,

Farrar MA; Kiernan MC; Kariyawasam DS, 2023, 'Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology', Brain, 146, pp. E65 - E66,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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