Publications

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2020
Fatehi, F. et al. Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Eur J Neurol 27, 2257-2266 (2020).
Servián-Morilla, E. et al. POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathol 139, 565-582 (2020).
2019
Donkervoort, S. et al. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol 138, 1013-1031 (2019).