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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: storey e. Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230722 Free PMC article.
Clinical and genetic study of Friedreich ataxia in an Australian population.
Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM. Delatycki MB, et al. Among authors: storey e. Am J Med Genet. 1999 Nov 19;87(2):168-74. doi: 10.1002/(sici)1096-8628(19991119)87:2<168::aid-ajmg8>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10533031
Towards an understanding of cognitive function in Friedreich ataxia.
Corben LA, Georgiou-Karistianis N, Fahey MC, Storey E, Churchyard A, Horne M, Bradshaw JL, Delatycki MB. Corben LA, et al. Among authors: storey e. Brain Res Bull. 2006 Jul 31;70(3):197-202. doi: 10.1016/j.brainresbull.2006.06.001. Epub 2006 Jun 21. Brain Res Bull. 2006. PMID: 16861103 Review.
A new dominantly inherited pure cerebellar ataxia, SCA 30.
Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ. Storey E, et al. J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):408-11. doi: 10.1136/jnnp.2008.159459. Epub 2008 Nov 7. J Neurol Neurosurg Psychiatry. 2009. PMID: 18996908
400 results