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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: pandolfo m, m zahem a. Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8. Nat Genet. 2004. PMID: 14770181 Free article.
Molecular analysis of the Friedreich's ataxia locus.
Chamberlain S, Koenig M, Richter A, Palau F, Pandolfo M. Chamberlain S, et al. Among authors: pandolfo m. Adv Neurol. 1993;61:193-204. Adv Neurol. 1993. PMID: 8421969 Review. No abstract available.
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M. Cossée M, et al. Among authors: pandolfo m. Ann Neurol. 1999 Feb;45(2):200-6. doi: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. Ann Neurol. 1999. PMID: 9989622
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: pandolfo m. 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: pandolfo m. 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.
Diagnosis and treatment of Friedreich ataxia: a European perspective.
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M. Schulz JB, et al. Among authors: pandolfo m. Nat Rev Neurol. 2009 Apr;5(4):222-34. doi: 10.1038/nrneurol.2009.26. Nat Rev Neurol. 2009. PMID: 19347027 Review.
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Martelli A, Friedman LS, Reutenauer L, Messaddeq N, Perlman SL, Lynch DR, Fedosov K, Schulz JB, Pandolfo M, Puccio H. Martelli A, et al. Among authors: pandolfo m. Dis Model Mech. 2012 Nov;5(6):860-9. doi: 10.1242/dmm.009829. Epub 2012 Jun 26. Dis Model Mech. 2012. PMID: 22736457 Free PMC article.
337 results