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Page 1
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.
Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B. Bernard G, et al. Among authors: putorti ml. Neurogenetics. 2010 Oct;11(4):457-64. doi: 10.1007/s10048-010-0251-8. Epub 2010 Jul 17. Neurogenetics. 2010. PMID: 20640464 Free PMC article.
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Bernard G, et al. Among authors: putorti ml. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Am J Hum Genet. 2011. PMID: 21855841 Free PMC article.
TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.
Tétreault M, Putorti ML, Thiffault I, Sylvain M, Venderver A, Schiffmann R, Brais B, Bernard G. Tétreault M, et al. Among authors: putorti ml. Can J Neurol Sci. 2012 Jan;39(1):122-3. doi: 10.1017/s0317167100022174. Can J Neurol Sci. 2012. PMID: 22384513 No abstract available.
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ. Rajadhyaksha AM, et al. Among authors: putorti ml. Am J Hum Genet. 2010 Nov 12;87(5):643-54. doi: 10.1016/j.ajhg.2010.10.013. Am J Hum Genet. 2010. PMID: 21070897 Free PMC article.