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A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
Latour P, Thauvin-Robinet C, Baudelet-Méry C, Soichot P, Cusin V, Faivre L, Locatelli MC, Mayençon M, Sarcey A, Broussolle E, Camu W, David A, Rousson R. Latour P, et al. Am J Hum Genet. 2010 Jan;86(1):77-82. doi: 10.1016/j.ajhg.2009.12.005. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20045102 Free PMC article.
[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
Renouil M, Stojkovic T, Jacquemont ML, Lauret K, Boué P, Fourmaintraux A, Randrianaivo H, Tallot M, Mignard D, Roelens P, Tabailloux D, Bernard R, Cartault F, Chane-Thien E, Dubourg O, Ferrer X, Sole G, Fournier E, Latour P, Lacour A, Mignard C. Renouil M, et al. Among authors: latour p. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):603-12. doi: 10.1016/j.neurol.2013.07.004. Epub 2013 Sep 5. Rev Neurol (Paris). 2013. PMID: 24011642 French.
156 results