A Routine ‘Top-Down’ Approach to Analysis of the Human Serum Proteome

por D’Silva, Arlene M., Hyett, Jon A., Coorssen, Jens R.
Publicado 2017

Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy

por Kariyawasam, Didu S. T., D'Silva, Arlene, Lin, Cindy, Ryan, Monique M., Farrar, Michelle A.
Publicado 2019

Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme

por D'Silva, Arlene M, Kariyawasam, Didu S T, Best, Stephanie, Wiley, Veronica, Farrar, Michelle A
Publicado 2021

Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study

por D’Silva, Arlene M., Kariyawasam, Didu, Venkat, Pooja, Mayoh, Chelsea, Farrar, Michelle A.
Publicado 2023

“Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being

por Wan, Hamish W. Y., Carey, Kate A., D’Silva, Arlene, Kasparian, Nadine A., Farrar, Michelle A.
Publicado 2019

“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy

por Kariyawasam, Didu S.T., D'Silva, Arlene M., Vetsch, Janine, Wakefield, Claire E., Wiley, Veronica, Farrar, Michelle A.
Publicado 2021

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study

por Kariyawasam, Didu, D’Silva, Arlene, Mowat, David, Russell, Jacqui, Sampaio, Hugo, Jones, Kristi, Taylor, Peter, Farrar, Michelle
Publicado 2022

Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen

por Kariyawasam, Didu, D'Silva, Arlene, Howells, James, Herbert, Karen, Geelan-Small, Peter, Lin, Cindy Shin-Yi, Farrar, Michelle Anne
Publicado 2021

Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

por Wan, Hamish W. Y., Carey, Kate A., D’Silva, Arlene, Vucic, Steve, Kiernan, Matthew C., Kasparian, Nadine A., Farrar, Michelle A.
Publicado 2020

The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers

por Davidson, Joanne E, Russell, Jacqueline S, Martinez, Noelia Nunez, Mowat, David R, Jones, Kristi J, Kirk, Edwin P, Kariyawasam, Didu, Farrar, Michelle, D’Silva, Arlene
Publicado 2023

Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

por D'Silva, Arlene M., Holland, Sandra, Kariyawasam, Didu, Herbert, Karen, Barclay, Peter, Cairns, Anita, MacLennan, Suzanna C., Ryan, Monique M., Sampaio, Hugo, Smith, Nicholas, Woodcock, Ian R., Yiu, Eppie M., Alexander, Ian E., Farrar, Michelle A.
Publicado 2022