HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

Annals of Neurology

Volumn 60, Issue 3, 2006, Pages 314-322

  Mukherjee, Odity ^a   Pastor, Pau ^a,b,c   Cairns, Nigel J ^a   Chakraverty, Sumi ^a   Kauwe, John S K ^a   Shears, Shantia ^a   Behrens, Maria I ^a,d   Budde, John ^a   Hinrichs, Anthony L ^a   Norton, Joanne ^a   Levitch, Denise ^a   Taylor Reinwald, Lisa ^a   Gitcho, Michael ^a   Tu, P H ^a   Grinberg, Lea Tenenholz ^a,e   Liscic, Rajka M ^a,f   Armendariz, Javier ^b,c   Morris, John C ^a   Goate, Alison M ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NAVARRA   (Spain)

^c UNIVERSITY OF NAVARRA   (Spain)

^d UNIVERSITY OF CHILE   (Chile)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f INSTITUTE FOR MEDICAL RESEARCH AND OCCUPATIONAL HEALTH   (Croatia)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARTIC ACID; PROGRANULIN; RNA; SIGNAL PEPTIDE; TAU PROTEIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BEHAVIOR; BRAIN DEGENERATION; CELL INCLUSION; CHROMOSOME 17Q; ENDOPLASMIC RETICULUM; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HEREDITARY DYSPHASIC DISINHIBITION DEMENTIA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LANGUAGE DISABILITY; MALE; MAPT GENE; MISSENSE MUTATION; NONSENSE MUTATION; PGRN GENE; PHENOTYPE; PRIORITY JOURNAL; RNA DEGRADATION; SEQUENCE ANALYSIS;

ADULT; AGED; AGED, 80 AND OVER; ASPARTIC ACID; CHROMOSOMES, HUMAN, PAIR 17; DEMENTIA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEUROPSYCHOLOGICAL TESTS; TAU PROTEINS; UBIQUITIN; VALINE;

EID: 33749499157     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20963     Document Type: Article

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