A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia

Neuropathology and Applied Neurobiology

Volumn 40, Issue 4, 2014, Pages 502-513

  Lashley, Tammaryn ^a   Rohrer, Jonathan D ^a   Mahoney, Colin ^a   Gordon, Elizabeth ^a   Beck, Jon ^a   Mead, Simon ^a   Warren, Jason ^a   Rossor, Martin ^a   Revesz, Tamas ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

C9orf72; FTLD; Progranulin; TDP 43

Indexed keywords

ALPHA SYNUCLEIN; AMYLOID BETA PROTEIN; PROGRANULIN; PROTEIN P62; TAU PROTEIN; C9ORF72 PROTEIN, HUMAN; DNA BINDING PROTEIN; GRN PROTEIN, HUMAN; P62 PROTEIN, HUMAN; PROTEIN; PROTEIN TDP-43; REPETITIVE DNA; RNA BINDING PROTEIN; SIGNAL PEPTIDE;

ADULT; ARTICLE; AUTOPSY; BRAIN ATROPHY; BRAIN CORTEX; BRAIN STEM; C9ORF72 GENE; CEREBELLUM; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FRONTAL LOBE; FRONTAL VARIANT FRONTOTEMPORAL DEMENTIA; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; NEUROIMAGING; NEUROPATHOLOGY; PATHOGENESIS; PRIORITY JOURNAL; TEMPORAL LOBE; TRINUCLEOTIDE REPEAT; AGED; BRAIN; CASE REPORT; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; ONSET AGE; PATHOLOGY; PEDIGREE;

AGE OF ONSET; AGED; BRAIN; DNA REPEAT EXPANSION; DNA-BINDING PROTEINS; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTEINS; RNA-BINDING PROTEINS;

EID: 84896708010     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/nan.12100     Document Type: Article

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