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NPJ Parkinson'S Disease|April 14, 2026
Clinical correlates of a negative cerebrospinal fluid α-synuclein seed amplification assay result in Parkinson's diseaseAndrea Mastrangelo, Isabel Wurster, Alice Ticca, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 13, 2019
Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profileStefanie Lerche, Gerrit Machetanz, Isabel Wurster, et al.Movement Disorders : Official Journal of the Movement Disorder Society|November 3, 2017
Cognitive impairment in Glucocerebrosidase (GBA)-associated PD: Not primarily associated with cerebrospinal fluid Abeta and Tau profilesStefanie Lerche, Claudia Schulte, Karin Srulijes, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 22, 2021
A Novel SNCA A30G Mutation Causes Familial Parkinson's DiseaseHui Liu, Christos Koros, Timo Strohäker, et al.Acta Neuropathologica Communications|October 31, 2021
Association between CSF alpha-synuclein seeding activity and genetic status in Parkinson's disease and dementia with Lewy bodiesKathrin Brockmann, Corinne Quadalti, Stefanie Lerche, et al.European Journal of Neurology|January 29, 2025
The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's diseaseIoanna Alefanti, Christos Koros, Viktoria Tsami, et al.Neurology|October 23, 2020
Phenylalanine Effects on Brain Function in Adult PhenylketonuriaAndrea Pilotto, Carl M Zipser, Edytha Leks, et al.Brain : a Journal of Neurology|April 17, 2026
Blood mtDNA markers of mitochondrial subtype and early-onset Parkinson's disease biologyAnne Grünewald, Felix Knab, Milan Zimmermann, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 6, 2021
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBAStefanie Lerche, Claudia Schulte, Isabel Wurster, et al.American Journal of Human Genetics|May 19, 2015
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaNiccolo E Mencacci, Ignacio Rubio-Agusti, Anselm Zdebik, et al.Pageof 4