title: Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology.
authors.affiliation: Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield , UK.
authors.forename: Alexander M
authors.initials: AM
authors.lastname: Beer
authors.forename: Johnathan
authors.initials: J
authors.lastname: Cooper-Knock
authors.forename: Adrian
authors.initials: A
authors.lastname: Higginbottom
authors.forename: J Robin
authors.initials: JR
authors.lastname: Highley
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Wharton
authors.forename: Paul G
authors.initials: PG
authors.lastname: Ince
authors.forename: Antonio
authors.initials: A
authors.lastname: Milano
authors.forename: Ashley A
authors.initials: AA
authors.lastname: Jones
authors.forename: Ammar
authors.initials: A
authors.lastname: Al-Chalabi
authors.forename: Janine
authors.initials: J
authors.lastname: Kirby
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Shaw
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D000073885:C9orf72 Protein; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology; D042622:DNA Repeat Expansion / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000378:metabolism; D005260:Female; D006801:Humans; D011506:Proteins / Q000235:genetics*; D000071456:Sequestosome-1 Protein; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; D011506:Proteins; C099718:SQSTM1 protein, human; D000071456:Sequestosome-1 Protein