The C9ORF72 expansion mutation: Gene structure, phenotypic and diagnostic issues

Acta Neuropathologica

Volumn 127, Issue 3, 2014, Pages 319-332

  Woollacott, Ione O C ^a   Mead, Simon ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

ALS; C9orf72; FTD; FTD ALS; FTLD; G4C2; MRI; rpPCR; Southern blot

Indexed keywords

ALLELE; ALTERNATIVE RNA SPLICING; ALZHEIMER DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; C9ORF72 GENE; CEREBROSPINAL FLUID; CORTICOBASAL DEGENERATION; CREUTZFELDT JAKOB DISEASE; DIFFERENTIAL DIAGNOSIS; DIFFUSE LEWY BODY DISEASE; DISEASE COURSE; DISEASE MARKER; FAMILY HISTORY; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENE STRUCTURE; GENETIC COUNSELING; GENETIC RISK; GENETIC VARIABILITY; HUMAN; HUNTINGTON CHOREA; MILD COGNITIVE IMPAIRMENT; NEUROIMAGING; NEUROLOGIC DISEASE; PARKINSON DISEASE; PHENOTYPE; PHYSICIAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; REVIEW; SOUTHERN BLOTTING;

ALTERNATIVE SPLICING; AMYOTROPHIC LATERAL SCLEROSIS; BRAIN; DNA REPEAT EXPANSION; FRONTOTEMPORAL LOBAR DEGENERATION; GENETIC CODE; GENETIC TECHNIQUES; HUMANS; NERVOUS SYSTEM DISEASES; PHENOTYPE; PROTEINS;

EID: 84896734269     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-014-1253-7     Document Type: Review

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