| 1 | AARS2, LKENP |
| AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases. | |
| Taglia I, Di Donato I, Bianchi S, Cerase A, Monti L, Marconi R, Orrico A, Rufa A, Federico A, Dotti MT. | |
| Acta Neurol Scand. Oct;138(4):278-283. doi: 10.1111/ane.12954. Epub 2018 May 10 2018 | |
| 2 | AARS2, LKENP |
| Novel (ovario) leukodystrophy related to AARS2 mutations | |
| Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. | |
| Neurology Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7 2014 | |