Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

Brain

Volumn 129, Issue 11, 2006, Pages 3115-3123

  Masellis, Mario ^a,b   Momeni, Parastoo ^g   Meschino, Wendy ^f   Heffner Jr , Reid ^h   Elder, Joshua ^g   Sato, Christine ^c   Liang, Yan ^c   St George Hyslop, Peter ^b,c,d   Hardy, John ^g   Bilbao, Juan ^e   Black, Sandra ^a,b,e   Rogaeva, Ekaterina ^b,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d TORONTO WESTERN HOSPITAL   (Canada)

^e SUNNYBROOK RESEARCH INSTITUTE   (Canada)

^f NORTH YORK GENERAL HOSPITAL   (Canada)

^g NATIONAL INSTITUTE ON AGING   (United States)

^h UNIVERSITY AT BUFFALO   (United States)

Author keywords

Corticobasal syndrome; Frontotemporal lobar degeneration; Gene; Mutation; Progranulin

Indexed keywords

ARGININE; GLYCINE; PROGRANULIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CANADA; CHINESE; CLINICAL TRIAL; CORTICOBASAL DEGENERATION; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HAPLOTYPE; HUMAN; NEUROPATHOLOGY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

APRAXIAS; BASE SEQUENCE; BRAIN; DEMENTIA; FEMALE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; RNA SPLICE SITES; SYNDROME; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 33750576830     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl276     Document Type: Article

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