%0 Journal Article
%A Brücke, Christof
%A Al-Azzani, Mohammed
%A Ramalingam, Nagendran
%A Ramón, Maria
%A Sousa, Rita L
%A Buratti, Fiamma
%A Zech, Michael
%A Sicking, Kevin
%A Amaral, Leslie
%A Gelpi, Ellen
%A Chandran, Aswathy
%A Agarwal, Aishwarya
%A Chaves, Susana R
%A Fernández, Claudio O
%A Dettmer, Ulf
%A Lautenschläger, Janin
%A Zweckstetter, Markus
%A Busnadiego, Ruben Fernandez
%A Zimprich, Alexander
%A Outeiro, Tiago Fleming
%T A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.
%J Molecular neurodegeneration
%V 20
%N 1
%@ 1750-1326
%C London
%I Biomed Central
%M DZNE-2025-01130
%P 98
%D 2025
%X Parkinson's disease (PD) affects millions of people worldwide, but only 5-10
%K Humans
%K alpha-Synuclein: genetics
%K Mutation, Missense: genetics
%K Parkinson Disease: genetics
%K Parkinson Disease: pathology
%K Male
%K Female
%K Pedigree
%K Aged
%K Middle Aged
%K Exome Sequencing
%K Brain: pathology
%K Aggregation (Other)
%K Alpha-synuclein (Other)
%K Bradykinesia (Other)
%K Dystonia (Other)
%K Parkinson´s disease (Other)
%K alpha-Synuclein (NLM Chemicals)
%K SNCA protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:41013605
%2 pmc:PMC12465293
%R 10.1186/s13024-025-00889-y
%U https://pub.dzne.de/record/281509