Jump from Pre-mutation to Pathologic Expansion in C9orf72

American Journal of Human Genetics

Volumn 96, Issue 6, 2015, Pages 962-970

  Xi, Zhengrui ^a   van Blitterswijk, Marka ^b   Zhang, Ming ^a   McGoldrick, Philip ^a   McLean, Jesse R ^a   Yunusova, Yana ^c,d   Knock, Erin ^a   Moreno, Danielle ^a   Sato, Christine ^a   McKeever, Paul M ^a,e   Schneider, Raphael ^a,e   Keith, Julia ^c   Petrescu, Nicolae ^c,e   Fraser, Paul ^a   Tartaglia, Maria Carmela ^a,e   Baker, Matthew C ^b   Graff Radford, Neill R ^f   Boylan, Kevin B ^f   Dickson, Dennis W ^b   Mackenzie, Ian R ^g   Rademakers, Rosa ^b   Robertson, Janice ^a,e   Zinman, Lorne ^c,e   Rogaeva, Ekaterina ^a,e   more..

^a UNIVERSITY OF TORONTO   (Canada)

^b MAYO GRADUATE SCHOOL   (United States)

^c SUNNYBROOK RESEARCH INSTITUTE   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

^f MAYO CLINIC   (United States)

^g UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; C9ORF72 PROTEIN, HUMAN; PROTEIN; REPETITIVE DNA;

ADULT; AGED; ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; DISEASE TRANSMISSION; EPIGENETICS; FAMILY HISTORY; FIBROBLAST; FOLLOW UP; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; METHYLATION; MIDDLE AGED; OPEN READING FRAME; PEDIGREE; PRIORITY JOURNAL; SOUTHERN BLOTTING; UPREGULATION; CANADA; DNA METHYLATION; GENETICS; PATHOLOGY; POLYMERASE CHAIN REACTION;

AMYOTROPHIC LATERAL SCLEROSIS; BLOTTING, SOUTHERN; CANADA; DNA METHYLATION; DNA REPEAT EXPANSION; FRONTOTEMPORAL LOBAR DEGENERATION; HAPLOTYPES; HUMANS; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEINS;

EID: 84929629454     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.04.016     Document Type: Article

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