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

by Didu S. T. Kariyawasam, Didu S. T. Kariyawasam, Arlene D'Silva, Cindy Lin, Monique M. Ryan, Michelle A. Farrar, Michelle A. Farrar
Published 2019-08-01

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

by Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Nadine A. Kasparian, Michelle A. Farrar
Published 2019-04-01

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

by Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Steve Vucic, Matthew C. Kiernan, Nadine A. Kasparian, Michelle A. Farrar
Published 2020-03-01

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

by Didu S.T. Kariyawasam, MBBS, Arlene M. D'Silva, PhD, Janine Vetsch, PhD, Claire E. Wakefield, PhD, Veronica Wiley, PhD, Michelle A. Farrar, PhD
Published 2021-03-01

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

by Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Stephen W Reddel, Garth A Nicholson, Marina L Kennerson
Published 2016-07-01