Browsing by Author "Hengel, H"
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Park, J; Tucci, A; Cipriani, V; Demidov, G; Rocca, C; Senderek, J; Butryn, M; Velic, A; Lam, T; Galanaki, E (2022)