TY  - JOUR
AU  - Al-Azzani, Mohammed
AU  - Weber, Sandrina
AU  - Ramalingam, Nagendran
AU  - Ramón, Maria
AU  - Shvachiy, Liana
AU  - Mestre, Gonçalo
AU  - Zech, Michael
AU  - Sicking, Kevin
AU  - de Opakua, Alain Ibáñez
AU  - Jayanthi, Vidyashree
AU  - Amaral, Leslie
AU  - Agarwal, Aishwarya
AU  - Chandran, Aswathy
AU  - Chaves, Susana R
AU  - Winkelmann, Juliane
AU  - Trenkwalder, Claudia
AU  - Schwager, Maike
AU  - Pauli, Silke
AU  - Dettmer, Ulf
AU  - Fernández, Claudio O
AU  - Lautenschläger, Janin
AU  - Zweckstetter, Markus
AU  - Fernandez-Busnadiego, Ruben
AU  - Mollenhauer, Brit
AU  - Outeiro, Tiago Fleming
TI  - A Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's Disease.
JO  - Movement disorders
VL  - 40
IS  - 12
SN  - 0885-3185
CY  - New York, NY
PB  - Wiley
M1  - DZNE-2025-01413
SP  - 2732 - 2745
PY  - 2025
AB  - Parkinson's disease (PD) is a complex multifactorial disorder with a genetic component in about 15
KW  - Humans
KW  - alpha-Synuclein: genetics
KW  - Parkinson Disease: genetics
KW  - Mutation, Missense: genetics
KW  - Male
KW  - Female
KW  - Middle Aged
KW  - Exome Sequencing
KW  - Pedigree
KW  - Parkinson's disease (Other)
KW  - genetics (Other)
KW  - neurodegeneration (Other)
KW  - protein aggregation (Other)
KW  - α‐synuclein (Other)
KW  - alpha-Synuclein (NLM Chemicals)
KW  - SNCA protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40905240
C2  - pmc:PMC12710137
DO  - DOI:10.1002/mds.70030
UR  - https://pub.dzne.de/record/282952
ER  -