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NPJ Parkinson'S Disease|May 7, 2025
Prominent role of PM10 in the link between air pollution and incident Parkinson's DiseaseAlessandro Gialluisi, Simona Costanzo, Maria Ilenia De Bartolo, et al.American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.Pageof 3