| 1 | COXPD24, NARS2
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| Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy
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| Seaver LH, DeRoos S, Andersen NJ, Betz B, Prokop J, Lannen N, Jordan R, Rajasekaran S.
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| Pediatr Neurol. Dec;89:26-30. doi: 10.1016/j.pediatrneurol.2018.07.014. Epub 2018 Aug 4 2018
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| 2 | COXPD24, EIEE75, NARS2, PARS2
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| PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
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| 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
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| 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
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| 3 | NARS2, PARS2, PNDC2
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| Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
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| Sofou K, Kollberg G, Holmström M, Dávila M, Darin N, Gustafsson CM, Holme E, Oldfors A, Tulinius M, Asin-Cayuela J.
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| Mol Genet Genomic Med. Jan;3(1):59-68. doi: 10.1002/mgg3.115. Epub 2014 Oct 23 2015
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| 4 | COXPD94, NARS2
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| Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
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| Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S.
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| PLoS Genet. Mar 25;11(3):e1005097. doi: 10.1371/journal.pgen.1005097. eCollection 2015 Mar. 2015
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| 5 | COXPD94, NARS2
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| Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
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| Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R.
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| Hum Mutat. Feb;36(2):222-31. doi: 10.1002/humu.22728 2015
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