-
Vogel, AP, Maruff, P, Reece, H, Carter, H, Tai, G, Schultz, BG, Corben, L, Delatycki, MB, Tsanas, A.
Clinically meaningful metrics of speech in neurodegenerative disease: Quantification of speech intelligibility and naturalness in ataxia.
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view publication
-
Lynch, DR, Goldsberry, A, Rummey, C, Farmer, J, Boesch, S, Delatycki, MB, Giunti, P, Hoyle, JC, Mariotti, C, Mathews, KD, et al.
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
Annals of Clinical and Translational Neurology
11(1)
:
4 -16
2024
view publication
-
Cortese, A, Beecroft, SJ, Facchini, S, Curro, R, Cabrera-Serrano, M, Stevanovski, I, Chintalaphani, S, Gamaarachchi, H, Weisburd, B, Folland, C, et al.
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
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view publication
-
Rius, R, Compton, AG, Baker, NL, Balasubramaniam, S, Best, S, Bhattacharya, K, Boggs, K, Boughtwood, T, Braithwaite, J, Bratkovic, D, et al.
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses.
2024
view publication
-
Woodcock, IR, Tachas, G, Desem, N, Houweling, PJ, Kean, M, Emmanuel, J, Kennedy, R, Carroll, K, de Valle, K, Adams, J, et al.
A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice.
PLOS ONE
19(1)
:
e0294847
2024
view publication