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Small fiber neuropathy and phosphorylated alpha-synuclein in the skin of E46K- SNCA mutation carriers
(Elsevier, 2019-06-05)
Background and objective: In 2004 we described the E46K mutation in alpha-synuclein gene (E46K-SNCA), a rare point mutation causing an aggressive Lewy body disease with early prominent non-motor features and small fiber ...