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Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series
Chand DH, Zaidman C, Arya K, et al.
The Journal of pediatrics, 2020
Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen
Kariyawasam D, D'Silva A, Howells J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy
Chambers GM, Settumba SN, Carey KA, et al.
Neurology, 2020
Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review
Wan HWY, Carey KA, D'Silva A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 70
Nutritional practices in pediatric patients with neuromuscular disorders
Chou E, Lindeback R, Sampaio H, et al.
Nutrition reviews, 2020
The implementation of newborn screening for spinal muscular atrophy: the Australian experience
Kariyawasam DST, Russell JS, Wiley V, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials
Darras BT, Farrar MA, Mercuri E, et al.
CNS Drugs, 2019
"Getting ready for the adult world": how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being
Wan HWY, Carey KA, D'Silva A, et al.
Orphanet journal of rare diseases, 2019, 14, 1
Myotonic dystrophy type 1: clinical manifestations in children and adolescents
Ho G, Ho G, Carey KA, et al.
Archives of disease in childhood, 2018
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis of Australian carer perspectives
Farrar MA, Carey KA, Paguinto SG, et al.
BMJ Open, 2018, 8, 5
Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1
Ho G, Widger J, Cardamone M, et al.
Sleep medicine, 2017, 32, p 92
Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter
Menezes MP, Farrar MA, Webster R, et al.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2016, 127, 1, p 911
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
Brewer MH, Chaudhry R, Qi J, et al.
PLoS Genetics, 2016, 12, 7
Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
Gupta VA, Ravenscroft G, Shaheen R, et al.
American journal of human genetics (The), 2013, 93, 6, p. 1108-1117
Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy
Farrar MA, Vucic S, Johnston HM, et al.
Journal of pediatrics (The), 2013, 162, 1, p. 155-159
Spinal muscular atrophy : molecular mechanisms
Farrar MA, Johnston HM, Grattan-Smith P, et al.
Current molecular medicine, 2009, 9, 7, p. 851-862
