By Ms Arlene D'Silva

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

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

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

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

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

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

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

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

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

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

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

Kariyawasam DST; D'Silva AM; Vetsch J; Wakefield CE; Wiley V; Farrar MA, 2021, '“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy', EClinicalMedicine, 33, pp. 100742, http://dx.doi.org/10.1016/j.eclinm.2021.100742

Kariyawasam D; D'silva A; Howells J; Herbert K; Geelan-Small P; Lin CSY; Farrar MA, 2021, 'Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen', Journal of Neurology, Neurosurgery and Psychiatry, 92, pp. 78 - 85, http://dx.doi.org/10.1136/jnnp-2020-324254

D'Silva A; Farrar MA, 2020, 'Personalized medicine for children with spinal muscular atrophy: Toward the holy grail', Muscle and Nerve, 62, pp. 425 - 426, http://dx.doi.org/10.1002/mus.27030

D'Silva AM; Hyett JA; Coorssen JR, 2020, 'First Trimester Protein Biomarkers for Risk of Spontaneous Preterm Birth: Identifying a Critical Need for More Rigorous Approaches to Biomarker Identification and Validation', Fetal Diagnosis and Therapy, 47, pp. 497 - 506, http://dx.doi.org/10.1159/000504975

Wan HWY; Carey KA; D'Silva A; Vucic S; Kiernan MC; Kasparian NA; Farrar MA, 2020, 'Health, wellbeing and lived experiences of adults with SMA: A scoping systematic review', Orphanet Journal of Rare Diseases, 15, pp. 70, http://dx.doi.org/10.1186/s13023-020-1339-3

Kariyawasam DST; D’Silva A; Herbert K; Lin CSY; Geelan-Small P; Farrar MA, 2020, '7. Motor unit changes in children with spinal muscular atrophy treated with nusinersen', Clinical Neurophysiology, 131, pp. e3 - e4, http://dx.doi.org/10.1016/j.clinph.2019.11.040

Wan HWY; Carey KA; D'Silva A; Kasparian NA; Farrar MA, 2019, '"Getting ready for the adult world": How adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being', Orphanet Journal of Rare Diseases, 14, pp. 74, http://dx.doi.org/10.1186/s13023-019-1052-2

Kariyawasam DST; D’silva A; Lin C; Ryan MM; Farrar MA; D'Silva A, 2019, 'Biomarkers and the development of a personalized medicine approach in spinal muscular atrophy', Frontiers in Neurology, 10, pp. 898, http://dx.doi.org/10.3389/fneur.2019.00898

D'Silva AM; Hyett JA; Coorssen JR, 2018, 'Proteomic analysis of first trimester maternal serum to identify candidate biomarkers potentially predictive of spontaneous preterm birth', Journal of Proteomics, 178, pp. 31 - 42, http://dx.doi.org/10.1016/j.jprot.2018.02.002

D'Silva A; Fyfe R; Hyett J, 2017, 'First trimester prediction and prevention of adverse pregnancy outcomes related to poor placentation', Current Opinion in Obstetrics and Gynecology, 29, pp. 367 - 374, http://dx.doi.org/10.1097/GCO.0000000000000420

D'Silva AM; Hyett JA; Coorssen JR, 2017, 'A routine 'top-down' approach to analysis of the human serum proteome', Proteomes, 5, http://dx.doi.org/10.3390/proteomes5020013

Sabri A; Lai D; D'Silva A; Seeho S; Kaur J; Ng C; Hyett J, 2014, 'Differential placental gene expression in term pregnancies affected by fetal growth restriction and macrosomia', Fetal Diagnosis and Therapy, 36, pp. 173 - 180, http://dx.doi.org/10.1159/000360535

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