TY  -  
T1  - Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 
SN  -  /  
UR  - http://hdl.handle.net/10138/301252 
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A1  - ITALSGEN Consortium; Genomic Translation ALS Care GTAC; ALS Sequencing Consortium; NYGC ALS Consortium; Answer ALS Fdn; Clinical Res ALS Related Disorders; SLAGEN Consortium; French ALS Consortium; Project MinE ALS Sequencing Consor 
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PB  -  
Y1  - 2018 
LA  - eng 
AB  - To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causat... 
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OP  -  
KW  - AMYOTROPHIC-LATERAL-SCLEROSIS; KINESIN HEAVY-CHAIN; DNA-DAMAGE; AXONAL-TRANSPORT; HEXANUCLEOTIDE REPEAT; TARGETED DISRUPTION; GENOTYPE IMPUTATION; MOTOR-NEURONS; FAMILIAL ALS; MUTATIONS; 3112 Neurosciences; 3124 Neurology and psychiatry; 3111 Biomedicine 
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ER  -