| 1 | COXPD12, DARS2, EARS2, EIEE75, LBSL, PARS2, PCH6, RARS2
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| Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
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| Al Balushi A, Matviychuk D, Jobling R, Salomons GS, Blaser S, Mercimek-Andrews S.
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| JIMD Rep. Dec 18;51(1):3-10. doi: 10.1002/jmd2.12079 2019
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| 2 | PCH6, RARS2
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| Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.
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| Mathew T, Avati A, D'Souza D, Therambil M.
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| Epilepsia Open. Mar 23;3(2):270-275. doi: 10.1002/epi4.12108. eCollection 2018 Jun. 2018
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| 3 | PCH6, RARS2
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| RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
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| van Dijk T, van Ruissen F, Jaeger B, Rodenburg RJ, Tamminga S, van Maarle M, Baas F, Wolf NI, Poll-The BT.
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| JIMD Rep. 33:87-92. doi: 10.1007/8904_2016_584. Epub 2016 Sep 29 2017
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| 4 | EIEE91, RARS2
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| RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
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| Nishri D, Goldberg-Stern H, Noyman I, Blumkin L, Kivity S, Saitsu H, Nakashima M, Matsumoto N, Leshinsky-Silver E, Lerman-Sagie T, Lev D.
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| Eur J Paediatr Neurol. May;20(3):412-7. doi: 10.1016/j.ejpn.2016.02.012. Epub 2016 Mar 2. 2016
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| 5 | RARS2
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| Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. 2015
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| Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW.
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| J Neuropathol Exp Neurol. Jul;74(7):688-703. doi: 10.1097/NEN.0000000000000209 2015
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| 6 | PCH6, RARS2
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| Neuropathologic features of pontocerebellar hypoplasia type 6.
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| Joseph JT, Innes AM, Smith AC, Vanstone MR, Schwartzentruber JA, Bulman DE, Majewski J, Daza RA, Hevner RF, Michaud J, Boycott KM; FORGE Canada Consortium.
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| J Neuropathol Exp Neurol. Nov;73(11):1009-25. doi: 10.1097/NEN.0000000000000123. 2014
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| 7 | PCH6, RARS2
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| Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
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| Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E.
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| J Inherit Metab Dis. Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8 2013
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| 8 | PCH6, RARS2
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| Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.
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| Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O.
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| Am J Hum Genet 81(4):857-62. Epub 2007 Aug 24. 2007
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