TY - GEN AU - Simón-Sánchez,Javier AU - Dopper,Elise G P AU - Cohn-Hokke,Petra E AU - Hukema,Renate K AU - Nicolaou,Nayia AU - Seelaar,Harro AU - de Graaf,J Roos A AU - de Koning,Inge AU - van Schoor,Natasja M AU - Deeg,Dorly J H AU - Smits,Marion AU - Raaphorst,Joost AU - van den Berg,Leonard H AU - Schelhaas,Helenius J AU - De Die-Smulders,Christine E M AU - Majoor-Krakauer,Danielle AU - Rozemuller,Annemieke J M AU - Willemsen,Rob AU - Pijnenburg,Yolande A L AU - Heutink,Peter AU - van Swieten,John C TI - The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions SN - 1460-2156 PY - 2012///0409 KW - Adult KW - Age of Onset KW - Aged KW - Aged, 80 and over KW - Amyotrophic Lateral Sclerosis KW - genetics KW - Autopsy KW - C9orf72 Protein KW - Cohort Studies KW - DNA Repeat Expansion KW - DNA-Binding Proteins KW - Female KW - Frontotemporal Dementia KW - Genotype KW - Humans KW - Immunohistochemistry KW - In Situ Hybridization KW - Intercellular Signaling Peptides and Proteins KW - Male KW - Middle Aged KW - Netherlands KW - Neurons KW - pathology KW - Neuropsychological Tests KW - Pedigree KW - Polymerase Chain Reaction KW - Progranulins KW - Proteins KW - Tissue Banks KW - tau Proteins N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1093/brain/awr353 ER -