TY  - JOUR
AU  - Brücke, Christof
AU  - Al-Azzani, Mohammed
AU  - Ramalingam, Nagendran
AU  - Ramón, Maria
AU  - Sousa, Rita L
AU  - Buratti, Fiamma
AU  - Zech, Michael
AU  - Sicking, Kevin
AU  - Amaral, Leslie
AU  - Gelpi, Ellen
AU  - Chandran, Aswathy
AU  - Agarwal, Aishwarya
AU  - Chaves, Susana R
AU  - Fernández, Claudio O
AU  - Dettmer, Ulf
AU  - Lautenschläger, Janin
AU  - Zweckstetter, Markus
AU  - Busnadiego, Ruben Fernandez
AU  - Zimprich, Alexander
AU  - Outeiro, Tiago Fleming
TI  - A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.
JO  - Molecular neurodegeneration
VL  - 20
IS  - 1
SN  - 1750-1326
CY  - London
PB  - Biomed Central
M1  - DZNE-2025-01130
SP  - 98
PY  - 2025
AB  - Parkinson's disease (PD) affects millions of people worldwide, but only 5-10
KW  - Humans
KW  - alpha-Synuclein: genetics
KW  - Mutation, Missense: genetics
KW  - Parkinson Disease: genetics
KW  - Parkinson Disease: pathology
KW  - Male
KW  - Female
KW  - Pedigree
KW  - Aged
KW  - Middle Aged
KW  - Exome Sequencing
KW  - Brain: pathology
KW  - Aggregation (Other)
KW  - Alpha-synuclein (Other)
KW  - Bradykinesia (Other)
KW  - Dystonia (Other)
KW  - Parkinson´s disease (Other)
KW  - alpha-Synuclein (NLM Chemicals)
KW  - SNCA protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:41013605
C2  - pmc:PMC12465293
DO  - DOI:10.1186/s13024-025-00889-y
UR  - https://pub.dzne.de/record/281509
ER  -