A candidate loss-of-function variant in SGIP1 causes synaptic dysfunction and recessive parkinsonism
SGIP1 的一个候选功能丧失变异导致突触功能障碍和隐性帕金森病
期刊:Cell Reports Medicine
影响因子:11.7
doi:10.1016/j.xcrm.2024.101749
Marianna Decet, Patrick Scott, Sabine Kuenen, Douja Meftah, Jef Swerts, Carles Calatayud, Sandra F Gallego, Natalie Kaempf, Eliana Nachman, Roman Praschberger, Nils Schoovaerts, Chris C Tang, David Eidelberg, Samir Al Adawi, Abdullah Al Asmi, Ramachandiran Nandhagopal, Patrik Verstreken
神经
帕金森
FlowCytometry
Rabbit
Horseradish Peroxidase