A Novel Presenilin 1 Mutation Associated with Pick's Disease but Not β-Amyloid Plaques

Annals of Neurology

Volumn 55, Issue 5, 2004, Pages 617-626

  Dermaut, Bart ^a   Kumar Singh, Samir ^a   Engelborghs, Sebastian ^b,c   Theuns, Jessie ^a   Rademakers, Rosa ^a   Saerens, Jos ^c   Pickut, Barbara A ^c   Peeters, Karin ^a   Van Den Broeck, Marleen ^a   Vennekens, Krist'l ^a   Claes, Stephen ^a   Cruts, Marc ^a   Cras, Patrick ^d   Martin, Jean Jacques ^d   Van Broeckhoven, Christine ^a,b   De Deyn, Peter Paul ^b,c  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c MIDDELHEIM HOSPITAL   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; ARGININE; GLYCINE; LEUCINE; PRESENILIN 1; PROLINE; TAU PROTEIN; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CLINICAL GENETICS; CODON; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; EXON; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; INTRON; MALE; NEUROPATHOLOGY; NIEMANN PICK DISEASE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; RNA SPLICING; TAUOPATHY;

AGED; AMINO ACID SUBSTITUTION; AMYLOID BETA-PROTEIN; FEMALE; FOLLOW-UP STUDIES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PICK DISEASE OF THE BRAIN; PRESENILIN-1; SENILE PLAQUES;

EID: 11144357241     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20083     Document Type: Article

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