@ARTICLE{
author={Mazurkiewicz-Beldinska Maria,Del Toro Mireia,Hahn Andreas,Haliloglu Goknur,Huidekop Hidde,Kravljanac Ruzica M,Muhlhausen Chris,Andersen Brian Nauheimer,Prpic Igor,Striano Pasquale,Auvin Stephane},
year={2020},
title={Strategies to shorten diagnostic delays for late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)},
journal={MOLECULAR GENETICS AND METABOLISM},
volume={129},
number={2},
pages={S106-S107},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Johnson Katherine,Bertoli M,Phillips L,Toepf A,Claeys K,Rakocevic-Stojanovic Vidosava M,Peric Stojan Z,Vissine J,Hahn Andreas,Maddison P,Akay E,Bastian A,Lusakowska A,Lek M,Xu L,MacArthur D,Straub V},
year={2016},
title={Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations},
journal={NEUROMUSCULAR DISORDERS},
volume={26},
number={},
pages={S108-S109},
document_type={Meeting Abstract},
}