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1 Mayo Clinic, Department of Neuroscience, Jacksonville, USA 2 Mayo Clinic, Department of Neurology, Jacksonville, USA 3 University of California, Department of Neurology, San Francisco, USA 4 Neurodegenerative Brain Diseases Group, University of Antwerp, Antwerpen, Belgium 5 Regional Neurogenetic Center, Lamezia Terme, Italy 6 Department of Pathology and Laboratory Medicine and Institute on Aging, University of Pennsylvania School of Medicine, Philadelphia, USA

Clinical and pathological heterogeneity in patients with the p.C139R missense mutation in Progranulin