| 1 | MARS2, SPAX3
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| Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
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| Bayat V, Thiffault I, Jaiswal M, Tétreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge EA, Graham BH, Brais B, Bellen HJ.
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| PLoS Biol 10(3):e1001288. doi: 10.1371/journal.pbio.1001288. Epub 2012 Mar 20.
2012
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| 2 | SPAX3
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| A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
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| Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B.
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| Brain 129(Pt 9):2332-40. Epub 2006 May 3. 2006
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| 3 | SPAX3
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| A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
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| Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B.
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| Brain 129(Pt 9):2332-40. Epub 2006 May 3.
2006
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