Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration

Acta Neuropathologica

Volumn 130, Issue 3, 2015, Pages 363-372

  Suh, Eun Ran ^a   Lee, Edward B ^a   Neal, Donald ^a   Wood, Elisabeth M ^a   Toledo, Jon B ^a   Rennert, Lior ^a   Irwin, David J ^a   McMillan, Corey T ^a   Krock, Bryan ^b   Elman, Lauren B ^a   McCluskey, Leo F ^a   Grossman, Murray ^a   Xie, Sharon X ^a   Trojanowski, John Q ^a   Van Deerlin, Vivianna M ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

ALS; C9orf72; Expansion; FTD; Southern blot

Indexed keywords

GENOMIC DNA; HEXANUCLEOTIDE; NUCLEOTIDE; UNCLASSIFIED DRUG; C9ORF72 PROTEIN, HUMAN; PROTEIN; REPETITIVE DNA;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN DEGENERATION; C9ORF72 GENE; CENTRAL NERVOUS SYSTEM; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; CROSS-SECTIONAL STUDY; DEATH; DENSITOMETRY; DISEASE DURATION; FEMALE; FRONTOTEMPORAL DEGENERATION; GENE; GENE MUTATION; GENE STRUCTURE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; LINEAR REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE ANALYSIS; NUCLEOTIDE REPEAT; ONSET AGE; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SOUTHERN BLOTTING; STATISTICAL ANALYSIS; AGED; AUTOMATED PATTERN RECOGNITION; BLOOD; COMPARATIVE STUDY; FRONTOTEMPORAL DEMENTIA; GENETICS; GENOTYPING TECHNIQUE; HAPLOTYPE; METABOLISM; MIDDLE AGED; PATHOPHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL MODEL; TIME FACTOR;

AGE OF ONSET; AGED; AMYOTROPHIC LATERAL SCLEROSIS; BLOTTING, SOUTHERN; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DNA REPEAT EXPANSION; FEMALE; FRONTOTEMPORAL LOBAR DEGENERATION; GENOTYPING TECHNIQUES; HAPLOTYPES; HUMANS; LINEAR MODELS; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; PATTERN RECOGNITION, AUTOMATED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; TIME FACTORS;

EID: 84939573969     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-015-1445-9     Document Type: Article

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