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Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.
Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M. Pippucci T, et al. Among authors: seri m. Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x. Eur J Neurol. 2009. PMID: 19087158
Persistence of a monosomic cell line in a fetus with mosaic trisomy 8.
Turchetti D, Pompilii E, Magrini E, Bonasoni MP, Pittalis MC, Segata M, Pession A, Santini D, Pilu G, Seri M. Turchetti D, et al. Among authors: seri m. Am J Med Genet A. 2011 Nov;155A(11):2791-4. doi: 10.1002/ajmg.a.34236. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932320
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways.
Evangelisti C, Bianco F, Pradella LM, Puliti A, Goldoni A, Sbrana I, Rossi M, Vargiolu M, Seri M, Romeo G, Stanghellini V, de Giorgio R, Bonora E. Evangelisti C, et al. Among authors: seri m. Neurogastroenterol Motil. 2012 Oct;24(10):e497-508. doi: 10.1111/j.1365-2982.2012.01998.x. Epub 2012 Aug 16. Neurogastroenterol Motil. 2012. PMID: 22897442
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: seri m. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M. Pippucci T, et al. Among authors: seri m. EMBO Mol Med. 2015 Jun;7(6):848-58. doi: 10.15252/emmm.201404399. EMBO Mol Med. 2015. PMID: 25870235 Free PMC article.
311 results