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Page 1
Guidelines for reporting clinical features in cases with MECP2 mutations.
Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M. Kerr AM, et al. Brain Dev. 2001 Jul;23(4):208-11. doi: 10.1016/s0387-7604(01)00193-0. Brain Dev. 2001. PMID: 11376997
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M. Vacca M, et al. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M. Vacca M, et al. Brain Dev. 2001 Dec;23 Suppl 1:S246-50. doi: 10.1016/s0387-7604(01)00343-6. Brain Dev. 2001. PMID: 11738884
Abnormal N-glycosylation pattern for brain nucleotide pyrophosphatase-5 (NPP-5) in Mecp2-mutant murine models of Rett syndrome.
Cortelazzo A, De Felice C, Guerranti R, Signorini C, Leoncini S, Pecorelli A, Scalabrì F, Madonna M, Filosa S, Della Giovampaola C, Capone A, Durand T, Mirasole C, Zolla L, Valacchi G, Ciccoli L, Guy J, D'Esposito M, Hayek J. Cortelazzo A, et al. Neurosci Res. 2016 Apr;105:28-34. doi: 10.1016/j.neures.2015.10.002. Epub 2015 Oct 20. Neurosci Res. 2016. PMID: 26476268
Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome.
De Felice C, Della Ragione F, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Scalabrì F, Marracino F, Madonna M, Belmonte G, Ricceri L, De Filippis B, Laviola G, Valacchi G, Durand T, Galano JM, Oger C, Guy A, Bultel-Poncé V, Guy J, Filosa S, Hayek J, D'Esposito M. De Felice C, et al. Neurobiol Dis. 2014 Aug;68(100):66-77. doi: 10.1016/j.nbd.2014.04.006. Epub 2014 Apr 24. Neurobiol Dis. 2014. PMID: 24769161 Free PMC article.
493 results