1 | COXPD24, NARS2 |
Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy | |
Seaver LH, DeRoos S, Andersen NJ, Betz B, Prokop J, Lannen N, Jordan R, Rajasekaran S. | |
Pediatr Neurol. Dec;89:26-30. doi: 10.1016/j.pediatrneurol.2018.07.014. Epub 2018 Aug 4 2018 | |
2 | COXPD24, EIEE75, NARS2, PARS2 |
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder | |
Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N | |
J Hum Genet. Apr;62(5):525-529. doi: 10.1038/jhg.2016.163. Epub 2017 Jan 12. Erratum in: J Hum Genet. 2017 Apr;62(5):587 2017 | |