Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

Brain

Volumn 131, Issue 10, 2008, Pages 2632-2646

  Webb, T E F ^a   Poulter, M ^a   Beck, J ^a   Uphill, J ^a   Adamson, G ^a   Campbell, T ^a   Linehan, J ^a   Powell, C ^a   Brandner, S ^a   Pal, S ^a   Siddique, D ^a   Wadsworth, J D ^a   Joiner, S ^a   Alner, K ^a   Petersen, C ^a   Hampson, S ^a   Rhymes, C ^a   Treacy, C ^a   Storey, E ^b   Geschwind, M D ^c   Nemeth, A H ^d   Wroe, S ^a   Collinge, J ^a   Mead, S ^a   more..

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b MONASH UNIVERSITY   (Australia)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Early onset dementia; Gerstmann Str ussler Scheinker syndrome; P102L; Prion disease; sCJD

Indexed keywords

APOLIPOPROTEIN E4; PRION PROTEIN;

ADULT; AGED; ARTICLE; CEREBELLAR ATAXIA; CLINICAL FEATURE; CODON; COGNITIVE DEFECT; CREUTZFELDT JAKOB DISEASE; DNA MODIFICATION; DNA POLYMORPHISM; FEMALE; GENEALOGY; GENETIC HETEROGENEITY; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; MICROSATELLITE MARKER; PEDIGREE; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL; SEX DIFFERENCE; UNITED KINGDOM;

ADULT; AGE OF ONSET; AGED; BRAIN; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; ENGLAND; EUROPE; FEMALE; GENEALOGY AND HERALDRY; GENETIC SCREENING; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; PRIONS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 54949126830     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn202     Document Type: Article

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