SMN1 gene duplications are associated with sporadic ALS

Neurology

Volumn 78, Issue 11, 2012, Pages 776-780

  Blauw, H M ^a   Barnes, C P ^c   Van Vught, P W J ^a   Van Rheenen, W ^a   Verheul, M ^d   Cuppen, E ^b,d   Veldink, J H ^a   Van Den Berg, L H ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d HUBRECHT INSTITUTE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; NERVE PROTEIN; SMN1 PROTEIN, HUMAN; SMN2 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 2;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE PREDISPOSITION; FEMALE; GENE AMPLIFICATION; GENE DUPLICATION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; AGED; GENE DOSAGE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; NETHERLANDS; PHYSIOLOGY; RISK; STATISTICAL MODEL;

AGED; AMYOTROPHIC LATERAL SCLEROSIS; FEMALE; GENE AMPLIFICATION; GENE DOSAGE; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LIKELIHOOD FUNCTIONS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NETHERLANDS; ODDS RATIO; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84859931823     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318249f697     Document Type: Article

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