Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis

Neurobiology of Aging

Volumn 33, Issue 10, 2012, Pages 2527.e11-2527.e16

  Ogaki, Kotaro ^a   Li, Yuanzhe ^a   Atsuta, Naoki ^b   Tomiyama, Hiroyuki ^a   Funayama, Manabu ^a   Watanabe, Hazuki ^b   Nakamura, Ryoichi ^b   Yoshino, Hideo ^c   Yato, Seiji ^d   Tamura, Asako ^e   Naito, Yutaka ^e,f   Taniguchi, Akira ^e   Fujita, Koji ^g   Izumi, Yuishin ^g   Kaji, Ryuji ^g   Hattori, Nobutaka ^a   Sobue, Gen ^b  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Setagaya Neurological Hospital   (Japan)

^d Department of Neurology   (Japan)

^e MIE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f ISE RED CROSS HOSPITAL   (Japan)

^g UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

Amyotrophic lateral sclerosis; Aphasia; C9orf72; Frontotemporal dementia; Incomplete penetrance; Sporadic

Indexed keywords

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; ASYMPTOMATIC DISEASE; C9ORF72 GENE; CONTROLLED STUDY; FAMILIAL DISEASE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; HAPLOTYPE; HETEROZYGOTE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MUTATOR GENE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIMARY PROGRESSIVE APHASIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN; FEMALE; GENETICS; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TEST; ONSET AGE; PENETRANCE;

C9ORF72 PROTEIN, HUMAN; PROTEIN; REPETITIVE DNA;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; ASIAN CONTINENTAL ANCESTRY GROUP; DNA REPEAT EXPANSION; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS;

EID: 84864383816     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2012.05.011     Document Type: Article

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