A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

Neurobiology of Aging

Volumn 35, Issue 6, 2014, Pages 1513.e7-1513.e11

  Calvo, Andrea ^a   Moglia, Cristina ^a   Canosa, Antonio ^a   Brunetti, Maura ^b   Barberis, Marco ^b   Traynor, Bryan J ^c   Carrara, Giovanna ^b   Valentini, Consuelo ^b   Restagno, Gabriella ^b   Chiò, Adriano ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b Azienda Ospedaliera Città della Salute e della Scienza   (Italy)

^c NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

Amyotrophic lateral sclerosis; De novo mutation; FUS

Indexed keywords

CREATINE; CREATINE KINASE; N ACETYLASPARTIC ACID; RNA BINDING PROTEIN; STOP CODON;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; ARTIFICIAL VENTILATION; ASTHENIA; BRAIN ATROPHY; BULBAR PARALYSIS; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DYSARTHRIA; DYSPHAGIA; FAMILIAL DISEASE; FAMILY HISTORY; FASCICULATION; FEMALE; FUS GENE; GASTROSTOMY; GENE; GENETIC ASSOCIATION; HUMAN; HYPERREFLEXIA; LEFT HEMISPHERE; MORTALITY; MOTOR CORTEX; MUSCLE DENERVATION; MUSCLE STRENGTH; NERVE STIMULATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PERONEUS NERVE PARALYSIS; PRIORITY JOURNAL; RESPIRATORY FAILURE; TENDON REFLEX; TRACHEOSTOMY; WEIGHT REDUCTION; AGE; AGED; EXON; GENETICS; HETEROZYGOTE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; STOP CODON; TIME; VERY ELDERLY; YOUNG ADULT;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; CODON, NONSENSE; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; RNA-BINDING PROTEIN FUS; TIME FACTORS; YOUNG ADULT;

EID: 84903367060     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.12.028     Document Type: Article

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