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Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
Silveira I, Miranda C, Guimarães L, Moreira MC, Alonso I, Mendonça P, Ferro A, Pinto-Basto J, Coelho J, Ferreirinha F, Poirier J, Parreira E, Vale J, Januário C, Barbot C, Tuna A, Barros J, Koide R, Tsuji S, Holmes SE, Margolis RL, Jardim L, Pandolfo M, Coutinho P, Sequeiros J. Silveira I, et al. Arch Neurol. 2002 Apr;59(4):623-9. doi: 10.1001/archneur.59.4.623. Arch Neurol. 2002. PMID: 11939898
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
Conceição Pereira M, Loureiro JL, Pinto-Basto J, Brandão E, Margarida Lopes A, Neves G, Dias P, Geraldes R, Martins IP, Cruz VT, Kamsteeg EJ, Brunner HG, Coutinho P, Sequeiros J, Alonso I. Conceição Pereira M, et al. Genet Med. 2012 Jan;14(1):143-51. doi: 10.1038/gim.2011.7. Genet Med. 2012. PMID: 22237444 Free article.
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.
Sensory neuronopathy in ataxia with oculomotor apraxia type 2.
Gazulla J, Benavente I, López-Fraile IP, Tordesillas C, Modrego P, Alonso I, Pinto-Basto J. Gazulla J, et al. J Neurol Sci. 2010 Nov 15;298(1-2):118-20. doi: 10.1016/j.jns.2010.09.004. Epub 2010 Sep 24. J Neurol Sci. 2010. PMID: 20869730
39 results