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Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study
Trucco F, Ridout D, Scoto M, et al.
Neurology, 2020
External validation of EULAR/ACR classification criteria for idiopathic inflammatory myopathies
Luu Q, Day J, Hall A, et al.
Annals of the rheumatic diseases, 2020
Clinical and histological features of immune-mediated necrotising myopathy: A multi-centre South Australian cohort study
Day J, Otto S, Cash K, et al.
Neuromuscular disorders : NMD, 2020, 30, 3, p 186
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
Fridman V, Sillau S, Acsadi G, et al.
Neurology, 2020
Clinical Variability in Spinal Muscular Atrophy Type III
Coratti G, Messina S, Lucibello S, et al.
Annals of neurology, 2020
Gain and loss of abilities in type II SMA: A 12-month natural history study
Coratti G, Lucibello S, Pera MC, et al.
Neuromuscular disorders : NMD, 2020, 30, 9, p 765
External Validation and Evaluation of Adding MRI or Extended Myositis Antibody Panel to the 2017 EULAR/ACR Myositis Classification Criteria
Luu Q, Day J, Hall A, et al.
ACR open rheumatology, 2019, 1, 7, p 462
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart
Wang ET, Wang ET, Treacy D, et al.
Human molecular genetics, 2019, 28, 8, p 1312
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
Glascock J, Sampson J, Haidet-Phillips A, et al.
Journal of Neuromuscular Diseases, 2018
Over-representation of statin-associated necrotising myopathy in patients of Aboriginal and Torres Strait Islander heritage
Day J, Day J, Limaye V
Internal medicine journal, 2018, 48, 6, p 749
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Panosyan FB, Laura M, Rossor AM, et al.
Neurology, 2017, 89, 9, p 927
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool
Ramsey D, Scoto M, Mayhew A, et al.
PLoS ONE, 2017, 12, 2
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
Fridman V, Bundy B, Reilly MM, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 86, 8, p 873
A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in Duchenne muscular dystrophy
Allen HD, Flanigan KM, Thrush PT, et al.
PLoS Currents, 2013, 5, 13 p.
Cardiac and clinical phenotype in Barth syndrome
Spencer CT, Bryant RM, Day J, et al.
Pediatrics, 2006, 118, 2, p. e337-e346
Report of the 115th ENMC workshop : DM2/PROMM and other myotonic dystrophies. 3rd Workshop
Collectif, Meola G, Krahe R, et al.
Neuromuscular disorders : NMD, 2003, 13, 7-8, p. 589-596
