Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

Neurobiology of Aging

Volumn 34, Issue 9, 2013, Pages 2234.e13-2234.e19

  Harms, Matthew B ^a   Cady, Janet ^a   Zaidman, Craig ^a   Cooper, Paul ^a   Bali, Taha ^a   Allred, Peggy ^a   Cruchaga, Carlos ^a   Baughn, Michael ^b   Libby, Ryan T ^c   Pestronk, Alan ^a   Goate, Alison ^a   Ravits, John ^b   Baloh, Robert H ^d  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c BENAROYA RESEARCH INSTITUTE   (United States)

^d CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Amyotrophic lateral sclerosis; C9ORF72; C9ORF72 hexanucleotide repeat; Genetics

Indexed keywords

ADOLESCENT; ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; C90RF72 GENE; CONTROLLED STUDY; FEMALE; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GENOMIC INSTABILITY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HEXANUCLEOTIDE REPEAT; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; MUTATOR GENE; NEUROPATHOLOGY; NUCLEIC ACID STRUCTURE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; UNITED STATES;

EID: 84878899164     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.03.006     Document Type: Article

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