Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Acta Neuropathologica

Volumn 130, Issue 1, 2015, Pages 77-92

  Pottier, Cyril ^a   Bieniek, Kevin F ^a,b   Finch, NiCole ^a   van de Vorst, Maartje ^c   Baker, Matt ^a   Perkersen, Ralph ^a   Brown, Patricia ^a   Ravenscroft, Thomas ^a   van Blitterswijk, Marka ^a   Nicholson, Alexandra M ^a   DeTure, Michael ^a   Knopman, David S ^b   Josephs, Keith A ^b   Parisi, Joseph E ^b   Petersen, Ronald C ^b   Boylan, Kevin B ^d   Boeve, Bradley F ^b   Graff Radford, Neill R ^d   Veltman, Joris A ^c,e   Gilissen, Christian ^c   Murray, Melissa E ^a   Dickson, Dennis W ^a   Rademakers, Rosa ^a   more..

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d MAYO CLINIC   (United States)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

FTLD TDP; Oligogenic mechanism; OPTN; TBK1; Whole genome sequencing

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; LEUCINE RICH REPEAT KINASE 2; MESSENGER RNA; OPTINEURIN; TANK BINDING KINASE 1; TAR DNA BINDING PROTEIN; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN; OPTN PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; TBK1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR IIIA;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN TISSUE; CONTROLLED STUDY; COPY NUMBER VARIATION; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GENOME ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROPATHOLOGY; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; BRAIN; COHORT ANALYSIS; DNA SEQUENCE; FEMALE; GENETICS; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; MOTOR NEURON DISEASE; MUTATION; PATHOLOGY; VERY ELDERLY; WESTERN BLOTTING;

AGED; AGED, 80 AND OVER; BLOTTING, WESTERN; BRAIN; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; FEMALE; FRONTOTEMPORAL LOBAR DEGENERATION; GENE EXPRESSION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MOTOR NEURON DISEASE; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTOR TFIIIA;

EID: 84931007726     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-015-1436-x     Document Type: Article

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