Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.

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作者： Luisa,Benussi ^[1] ; Antonio,Longobardi ^[1] ; Cemile,Kocoglu ^[2] ; Matteo,Carrara ^[3] ; Sonia,Bellini ^[4] ; Clarissa,Ferrari ^[1] ; Roland,Nicsanu ^[4] ; Claudia,Saraceno ^[1] ; Cristian,Bonvicini ^[1] ; Silvia,Fostinelli ^[1] ; Roberta,Zanardini ^[5] ; Marcella,Catania ^[1] ; Matthieu,Moisse ^[6] ; Philip,Van Damme ^[7] ; Giuseppe,Di Fede ^[8] ; Giuliano,Binetti ^[7] ; Christine,Van Broeckhoven ^[8] ; Julie,van der Zee ^[9] ; Roberta,Ghidoni ^[6]

作者单位： Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, I-25125 Brescia, Italy. ^[1] Neurodegenerative Brain Diseases, VIB Center for Molecular Neurology, VIB, B-2610 Antwerp, Belgium. ^[2] Department of Biomedical Sciences, University of Antwerp, B-2000 Antwerp, Belgium. ^[3] Service of Statistics, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, I-25125 Brescia, Italy. ^[4] MAC-Memory Clinic and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, I-25125 Brescia, Italy. ^[5] Neurology 5/Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, I-20133 Milan, Italy. ^[6] Department of Neurosciences and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, B-3000 Leuven, Belgium. ^[7] Laboratory of Neurobiology, Center for Brain and Disease Research, VIB, B-3000 Leuven, Belgium. ^[8] Department of Neurology, University Hospitals Leuven, B-3000 Leuven, Belgium. ^[9]

关键词 DNAJC6 NGS PPT1 SORL1 allele dose effect cross-disease endo-lysosomal genes loss of function multicarrier