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208 results

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Page 1
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Malerba F, Alberini G, Balagura G, Marchese F, Amadori E, Riva A, Vari MS, Gennaro E, Madia F, Salpietro V, Angriman M, Giordano L, Accorsi P, Trivisano M, Specchio N, Russo A, Gobbi G, Raviglione F, Pisano T, Marini C, Mancardi MM, Nobili L, Freri E, Castellotti B, Capovilla G, Coppola A, Verrotti A, Martelli P, Miceli F, Maragliano L, Benfenati F, Cilio MR, Johannesen KM, Møller RS, Ceulemans B, Minetti C, Weckhuysen S, Zara F, Taglialatela M, Striano P. Malerba F, et al. Among authors: taglialatela m. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 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.
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.
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.
208 results