Scheduled Maintenance Notice

Please note that Researcher Profiles will be undergoing scheduled maintenance on Wednesday 7th Oct, from 8:00am to 9:00am. During this time, the Researcher Profiles system will be unavailable. We apologise for any inconvenience and appreciate your understanding.

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Conference Papers

Topf A; Cox D; Zaharieva I; Di Leo V; Sarparanta J; Jonson PH; Sealby I; Smolnikov A; White R; Vihola A; Savarese M; Merteroglu M; Wali N; Laricchia K; Venturini C; Vroling B; Stenton S; Cummings B; Harris E; Bettolo CM; Manera JD; Barresi R; Duff J; England E; Patrick J; Nakagawa O; Nishino I; Laporte J; Vilchez J; Macarthur D; Sarkozy A; Cordell H; Udd B; Busch-Nentwich E; Muntoni F; Straub V; Consortium ST, 2025, 'Digenic inheritance as a causative mechanism of skeletal myopathy', in Journal of the Neurological Sciences, Elsevier, pp. 123858, http://dx.doi.org/10.1016/j.jns.2025.123858


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