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1.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
2.
Baumann, M.* et al.: MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95, 182-186 (2018)