Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity.

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第一作者： Tommaso,Nicoletti

第一单位： Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland. Electronic address: tommasof.nicoletti@gmail.com.

作者： Tommaso,Nicoletti ^[1] ; Andrea,Bink ^[2] ; Birgit,Helmchen ^[3] ; Nils,Briel ^[4] ; Karl,Frontzek ^[5] ; Benjamin,Vlad ^[6] ; Ariana,Gaspert ^[3] ; Elisabeth,Boudriot ^[6] ; Hans Heinrich,Jung ^[6] ; Anna Maria,Reuss ^[7] ; Michael,Weller ^[6] ; Tibor,Hortobágyi ^[7]

作者单位： Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland. Electronic address: tommasof.nicoletti@gmail.com. ^[1] Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland; Department of Neuroradiology, University Hospital Zurich, Switzerland. ^[2] Department of Pathology, University Hospital Zurich, Zurich, Switzerland. ^[3] Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University, Munich, Germany. ^[4] Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK. ^[5] Department of Neurology, University Hospital Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland. ^[6] Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland. ^[7]

关键词 4R-tauopathy CTNS Calcification Cristallopathy Crystals Cysteamine Necroptosis TFEB