Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

Acta Neuropathologica

Volumn 130, Issue 6, 2015, Pages 863-876

  van Blitterswijk, Marka ^a   Gendron, Tania F ^a   Baker, Matthew C ^a   DeJesus Hernandez, Mariely ^a   Finch, NiCole A ^a   Brown, Patricia H ^a   Daughrity, Lillian M ^a   Murray, Melissa E ^a   Heckman, Michael G ^b   Jiang, Jie ^c   Lagier Tourenne, Clotilde ^c,d   Edbauer, Dieter ^e,f,g   Cleveland, Don W ^c   Josephs, Keith A ^h   Parisi, Joseph E ^h   Knopman, David S ^h   Petersen, Ronald C ^h   Petrucelli, Leonard ^a   Boeve, Bradley F ^h   Graff Radford, Neill R ^b   Boylan, Kevin B ^b   Dickson, Dennis W ^a   Rademakers, Rosa ^a   more..

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^f UNIVERSITY OF MUNICH   (Germany)

^g Germany 3 Munich Cluster for Systems Neurology   (Germany)

^h MAYO CLINIC   (United States)

Author keywords

Amyotrophic lateral sclerosis; C9ORF72; Disease modifier; Frontotemporal dementia; Frontotemporal lobar degeneration; Motor neuron disease

Indexed keywords

CHROMOSOME 9 OPEN READING FRAME 72; CHROMOSOME PROTEIN; POLY(GA) PROTEIN; POLY(GP) PROTEIN; PROTEIN; UNCLASSIFIED DRUG; C9ORF72 PROTEIN, HUMAN; REPETITIVE DNA;

ADULT; AGED; ARTICLE; CEREBELLUM; CLINICAL FEATURE; CONTROLLED STUDY; DNA BARCODING; EXON; FEMALE; FRONTAL CORTEX; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; IMMUNOASSAY; INTRON; MAJOR CLINICAL STUDY; MALE; MOTOR NEURON DISEASE; PRIORITY JOURNAL; PROMOTER REGION; REAL TIME POLYMERASE CHAIN REACTION; VERY ELDERLY; AMYOTROPHIC LATERAL SCLEROSIS; FRONTAL LOBE; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; HETEROZYGOTE; METABOLISM; MIDDLE AGED; SURVIVAL ANALYSIS; TISSUE BANK;

AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; CEREBELLUM; DNA REPEAT EXPANSION; FEMALE; FRONTAL LOBE; FRONTOTEMPORAL DEMENTIA; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HETEROZYGOTE; HUMANS; INTRONS; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; PROMOTER REGIONS, GENETIC; PROTEINS; SURVIVAL ANALYSIS; TISSUE BANKS;

EID: 84947614093     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-015-1480-6     Document Type: Article

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