HIGHLIGHTS
- who: Massimiliano Zanin from the All the participants have provided written informed consent to take part in this studyBoth the SNCA-mutated patient (p.A P), and the unaffected control (Control, ) were, year-old male (as a control already used in another study45) when the biopsies were collected (Supplementary Table, ). The SNCA-triplication patient and the unaffected first-degree relative control (Control, ) were, and, year-old female, respectively, when the sampling was executed. The RHOT1-mutated patient was from the existing German PD cohort (average age of onset of, ., ±, ., years, average age of sample collection of, ., ±, ., years . . .

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