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Page 1
Frataxin knockin mouse.
Miranda CJ, Santos MM, Ohshima K, Smith J, Li L, Bunting M, Cossée M, Koenig M, Sequeiros J, Kaplan J, Pandolfo M. Miranda CJ, et al. Among authors: sequeiros j. FEBS Lett. 2002 Feb 13;512(1-3):291-7. doi: 10.1016/s0014-5793(02)02251-2. FEBS Lett. 2002. PMID: 11852098 Free article.
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. Among authors: sequeiros j. Arch Neurol. 2002 Apr;59(4):623-9. doi: 10.1001/archneur.59.4.623. Arch Neurol. 2002. PMID: 11939898
Iron metabolism in mice with partial frataxin deficiency.
Santos MM, Miranda CJ, Levy JE, Montross LK, Cossée M, Sequeiros J, Andrews N, Koenig M, Pandolfo M. Santos MM, et al. Among authors: sequeiros j. Cerebellum. 2003;2(2):146-53. doi: 10.1080/14734220309408. Cerebellum. 2003. PMID: 12880182
Frataxin overexpressing mice.
Miranda CJ, Santos MM, Ohshima K, Tessaro M, Sequeiros J, Pandolfo M. Miranda CJ, et al. Among authors: sequeiros j. FEBS Lett. 2004 Aug 13;572(1-3):281-8. doi: 10.1016/j.febslet.2004.07.022. FEBS Lett. 2004. PMID: 15304363 Free article.
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
Costa MDC, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P. Costa MDC, et al. Among authors: sequeiros j. J Hum Genet. 2006;51(8):645-651. doi: 10.1007/s10038-006-0001-9. Epub 2006 Jul 21. J Hum Genet. 2006. PMID: 16858508 Free PMC article.
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M. Moreira MC, et al. Among authors: sequeiros j. Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8. Nat Genet. 2004. PMID: 14770181 Free article.
249 results