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Clinical and Laboratory Haematology|January 24, 2004
Validation of a quantitative SPR assay for recombinant FVIIIA N McCormick, M E Leach, G Savidge, et al.Journal of Neuromuscular Diseases|February 19, 2025
Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN-related myopathyL H Hayes, S B Neuhaus, S Donkervoort, et al.Annals of Neurology|September 30, 2015
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotypeS Donkervoort, M Papadaki, J M de Winter, et al.Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.Pageof 1