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Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.

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第一作者： Ceren,Tunca

第一单位： Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, İstanbul, Turkey.

作者： Ceren,Tunca ^[1] ; Eylül Ece,İşlek Camadan ^[1] ; Natalia,Smolina ^[1] ; Robin J,Palvadeau ^[1] ; Özgür,Öztop Çakmak ^[2] ; Atay,Vural ^[2] ; Andreas,Traschütz ^[3] ; Filippo M,Santorelli ^[4] ; Bernard,Brais ^[5] ; Rebecca,Schüle ^[6] ; Matthis,Synofzik ^[3] ; A Nazlı,Başak ^[1]

作者单位： Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, İstanbul, Turkey. ^[1] Department of Neurology, School of Medicine, Koç University, İstanbul, Turkey. ^[2] Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany.;German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. ^[3] Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy. ^[4] Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada. ^[5] Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg, Germany. ^[6]

关键词 ARSACS PBMC diagnostic assay fibroblasts