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X-linked congenital ataxia: a clinical and genetic study.
Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J. Bertini E, et al. Among authors: zanni g. Am J Med Genet. 2000 May 1;92(1):53-6. Am J Med Genet. 2000. PMID: 10797423
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
Saillour Y, Zanni G, Des Portes V, Heron D, Guibaud L, Iba-Zizen MT, Pedespan JL, Poirier K, Castelnau L, Julien C, Franconnet C, Bonthron D, Porteous ME, Chelly J, Bienvenu T. Saillour Y, et al. Among authors: zanni g. J Med Genet. 2007 Nov;44(11):739-44. doi: 10.1136/jmg.2007.051334. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617514 Free PMC article.
X-linked congenital ataxia: a new locus maps to Xq25-q27.1.
Zanni G, Bertini E, Bellcross C, Nedelec B, Froyen G, Neuhäuser G, Opitz JM, Chelly J. Zanni G, et al. Am J Med Genet A. 2008 Mar 1;146A(5):593-600. doi: 10.1002/ajmg.a.32186. Am J Med Genet A. 2008. PMID: 18241076
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.
Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto M, Billuart P. Meziane H, et al. Among authors: zanni g. Hum Mol Genet. 2016 Jun 1;25(11):2314-2323. doi: 10.1093/hmg/ddw102. Epub 2016 May 4. Hum Mol Genet. 2016. PMID: 27146843 Free article.
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N. Cappuccio G, et al. Among authors: zanni g. Am J Med Genet A. 2022 Oct;188(10):3032-3040. doi: 10.1002/ajmg.a.62911. Epub 2022 Jul 25. Am J Med Genet A. 2022. PMID: 35876338 Free PMC article.
297 results