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Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
Sicca F, Ambrosini E, Marchese M, Sforna L, Servettini I, Valvo G, Brignone MS, Lanciotti A, Moro F, Grottesi A, Catacuzzeno L, Baldini S, Hasan S, D'Adamo MC, Franciolini F, Molinari P, Santorelli FM, Pessia M. Sicca F, et al. Among authors: grottesi a. Sci Rep. 2016 Sep 28;6:34325. doi: 10.1038/srep34325. Sci Rep. 2016. PMID: 27677466 Free PMC article.
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.
Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. Ambrosini E, et al. Among authors: grottesi a. Hum Mol Genet. 2014 Sep 15;23(18):4875-86. doi: 10.1093/hmg/ddu201. Epub 2014 May 2. Hum Mol Genet. 2014. PMID: 24794859 Free PMC article.
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
Hasan S, Balobaid A, Grottesi A, Dabbagh O, Cenciarini M, Rawashdeh R, Al-Sagheir A, Bove C, Macchioni L, Pessia M, Al-Owain M, D'Adamo MC. Hasan S, et al. Among authors: grottesi a. J Neurophysiol. 2017 Oct 1;118(4):2402-2411. doi: 10.1152/jn.00284.2017. Epub 2017 Jul 26. J Neurophysiol. 2017. PMID: 28747464 Free PMC article.
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
D'Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T. D'Adamo MC, et al. Among authors: grottesi a. Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollection 2014. Front Physiol. 2015. PMID: 25642194 Free PMC article.
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.
D'Adamo MC, Sforna L, Visentin S, Grottesi A, Servettini L, Guglielmi L, Macchioni L, Saredi S, Curcio M, De Nuccio C, Hasan S, Corazzi L, Franciolini F, Mora M, Catacuzzeno L, Pessia M. D'Adamo MC, et al. Among authors: grottesi a. PLoS One. 2016 May 19;11(5):e0155516. doi: 10.1371/journal.pone.0155516. eCollection 2016. PLoS One. 2016. PMID: 27196359 Free PMC article.
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M. Martinelli S, et al. Among authors: grottesi a. Hum Mol Genet. 2008 Jul 1;17(13):2018-29. doi: 10.1093/hmg/ddn099. Epub 2008 Mar 27. Hum Mol Genet. 2008. PMID: 18372317 Free PMC article.
60 results