Hall, Emma A ;
Nahorski, Michael S ;
Murray, Lyndsay M...
Hall , E A , Nahorski , M S , Murray , L M , Shaheen , R , Perkins , E , Dissanayake , K N , Kristaryanto , Y , Jones , R A , Vogt , J , Rivagorda , M , Handley , M T , Mali , G R , Quidwai , T , Soares , D C , Keighren , M A , McKie , L , Mort , R L , Gammoh , N , Garcia-Munoz , A , Davey , T , Vermeren , M , Walsh , D , Budd , P , Aligianis , I A , Faqeih , E , Quigley , A J , Jackson , I J , Kulathu , Y , Jackson , M , Ribchester , R R , von Kriegsheim , A , Alkuraya , F S , Woods , C G , Maher , E R & Mill , P 2017 , ' PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ' American Journal of Human Genetics , vol 100 , no. 5 , pp. 706-724 . DOI:10.1016/j.ajhg.2017.03.008.
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2017
