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New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
D'Adamo MC, Hasan S, Guglielmi L, Servettini I, Cenciarini M, Catacuzzeno L, Franciolini F. D'Adamo MC, et al. Among authors: guglielmi l. Front Cell Neurosci. 2015 Aug 19;9:317. doi: 10.3389/fncel.2015.00317. eCollection 2015. Front Cell Neurosci. 2015. PMID: 26347608 Free PMC article. Review.
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: guglielmi l. 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.
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: guglielmi l. 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: guglielmi l. PLoS One. 2016 May 19;11(5):e0155516. doi: 10.1371/journal.pone.0155516. eCollection 2016. PLoS One. 2016. PMID: 27196359 Free PMC article.
An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1.
Servettini I, Talani G, Megaro A, Setzu MD, Biggio F, Briffa M, Guglielmi L, Savalli N, Binda F, Delicata F, Bru-Mercier G, Vassallo N, Maglione V, Cauchi RJ, Di Pardo A, Collu M, Imbrici P, Catacuzzeno L, D'Adamo MC, Olcese R, Pessia M. Servettini I, et al. Among authors: guglielmi l. Proc Natl Acad Sci U S A. 2023 Aug;120(31):e2207978120. doi: 10.1073/pnas.2207978120. Epub 2023 Jul 24. Proc Natl Acad Sci U S A. 2023. PMID: 37487086 Free PMC article.
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Dimitrov B, et al. Among authors: guglielmi l. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028
91 results