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Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, Bottani A, Kumps C, Angelini F, Bellutti Enders F, Christen-Zaech S, Rizzi M, Renella R, Beck-Popovic M, Poloni C, Frossard V, Blouin JL, Rivolta C, Riccio O, Candotti F, Hofer M, Unger S, Superti-Furga A. Atallah I, et al. Among authors: poloni c. Clin Genet. 2021 Jun;99(6):780-788. doi: 10.1111/cge.13942. Epub 2021 Feb 21. Clin Genet. 2021. PMID: 33586135
Status epilepticus in fragile X syndrome.
Gauthey M, Poloni CB, Ramelli GP, Roulet-Perez E, Korff CM. Gauthey M, et al. Epilepsia. 2010 Dec;51(12):2470-3. doi: 10.1111/j.1528-1167.2010.02761.x. Epub 2010 Nov 3. Epilepsia. 2010. PMID: 21204809 Free article.
Alexander disease: early presence of cerebral MRI criteria.
Poloni CB, Ferey S, Haenggeli CA, Delavelle J, Bottani A, Salomons GS, Van Der Knaap MS, Korff CM. Poloni CB, et al. Eur J Paediatr Neurol. 2009 Nov;13(6):556-8. doi: 10.1016/j.ejpn.2008.11.008. Epub 2009 Jan 6. Eur J Paediatr Neurol. 2009. PMID: 19128991
45 results