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Page 1
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Nappi M, Barrese V, Carotenuto L, Lesca G, Labalme A, Ville D, Smol T, Rama M, Dieux-Coeslier A, Rivier-Ringenbach C, Soldovieri MV, Ambrosino P, Mosca I, Pusch M, Miceli F, Taglialatela M. Nappi M, et al. Among authors: taglialatela m. Proc Natl Acad Sci U S A. 2022 Apr 12;119(15):e2116887119. doi: 10.1073/pnas.2116887119. Epub 2022 Apr 4. Proc Natl Acad Sci U S A. 2022. PMID: 35377796 Free PMC article.
A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists.
Castaldo P, Stefanoni P, Miceli F, Coppola G, Del Giudice EM, Bellini G, Pascotto A, Trudell JR, Harrison NL, Annunziato L, Taglialatela M. Castaldo P, et al. Among authors: taglialatela m. J Biol Chem. 2004 Jun 11;279(24):25598-604. doi: 10.1074/jbc.M311021200. Epub 2004 Apr 5. J Biol Chem. 2004. PMID: 15066993 Free article.
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).
Bassi MT, Balottin U, Panzeri C, Piccinelli P, Castaldo P, Barrese V, Soldovieri MV, Miceli F, Colombo M, Bresolin N, Borgatti R, Taglialatela M. Bassi MT, et al. Among authors: taglialatela m. Neurogenetics. 2005 Dec;6(4):185-93. doi: 10.1007/s10048-005-0012-2. Epub 2005 Oct 19. Neurogenetics. 2005. PMID: 16235065 Free article.
Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions.
Soldovieri MV, Castaldo P, Iodice L, Miceli F, Barrese V, Bellini G, Miraglia del Giudice E, Pascotto A, Bonatti S, Annunziato L, Taglialatela M. Soldovieri MV, et al. Among authors: taglialatela m. J Biol Chem. 2006 Jan 6;281(1):418-28. doi: 10.1074/jbc.M510980200. Epub 2005 Oct 31. J Biol Chem. 2006. PMID: 16260777 Free article.
Involvement of KCNQ2 subunits in [3H]dopamine release triggered by depolarization and pre-synaptic muscarinic receptor activation from rat striatal synaptosomes.
Martire M, D'Amico M, Panza E, Miceli F, Viggiano D, Lavergata F, Iannotti FA, Barrese V, Preziosi P, Annunziato L, Taglialatela M. Martire M, et al. Among authors: taglialatela m. J Neurochem. 2007 Jul;102(1):179-93. doi: 10.1111/j.1471-4159.2007.04562.x. Epub 2007 Apr 16. J Neurochem. 2007. PMID: 17437547 Free article.
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.
Soldovieri MV, Cilio MR, Miceli F, Bellini G, Miraglia del Giudice E, Castaldo P, Hernandez CC, Shapiro MS, Pascotto A, Annunziato L, Taglialatela M. Soldovieri MV, et al. Among authors: taglialatela m. J Neurosci. 2007 May 2;27(18):4919-28. doi: 10.1523/JNEUROSCI.0580-07.2007. J Neurosci. 2007. PMID: 17475800 Free PMC article.
Hyperekplexia caused by dominant-negative suppression of glyra1 function.
Bellini G, Miceli F, Mangano S, Miraglia del Giudice E, Coppola G, Barbagallo A, Taglialatela M, Pascotto A. Bellini G, et al. Among authors: taglialatela m. Neurology. 2007 May 29;68(22):1947-9. doi: 10.1212/01.wnl.0000263193.75291.85. Neurology. 2007. PMID: 17536053 Free article. No abstract available.
205 results