Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 15, Issue 7-8, 2014, Pages 557-562

  Kent, Louisa ^a   Vizard, Thomas N ^a   Smith, Bradley N ^b   Topp, Simon D ^b   Vance, Caroline ^b   Gkazi, Athina ^b   Miller, Jack ^b   Shaw, Christopher E ^b   Talbot, Kevin ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Amyotrophic lateral sclerosis; Fused in sarcoma; Truncation

Indexed keywords

ADOLESCENT; ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASE PAIRING; CASE REPORT; CELL LINE; CELLULAR STRESS SIGNAL; CONTROLLED STUDY; DISEASE SEVERITY; EMBRYO; EXOME; FAMILIAL DISEASE; FEMALE; FUSED IN SARCOMA GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEK293 CELL LINE; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; NSC 34 CELL LINE; NUCLEAR LOCALIZATION SIGNAL; WILD TYPE; AGED; DISEASE COURSE; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; YOUNG ADULT;

MYC PROTEIN; MYC PROTEIN, HUMAN; POLYADENYLIC ACID BINDING PROTEIN; RNA BINDING PROTEIN;

ADOLESCENT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; MALE; MUTATION; POLY(A)-BINDING PROTEINS; PROTO-ONCOGENE PROTEINS C-MYC; RNA-BINDING PROTEIN FUS; TRANSFECTION; YOUNG ADULT;

EID: 84914687763     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2014.920033     Document Type: Article

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