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Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G. Soldovieri MV, et al. Among authors: de maria m. Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13. Hum Mutat. 2014. PMID: 24375629
Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin.
Ambrosino P, Alaimo A, Bartollino S, Manocchio L, De Maria M, Mosca I, Gomis-Perez C, Alberdi A, Scambia G, Lesca G, Villarroel A, Taglialatela M, Soldovieri MV. Ambrosino P, et al. Among authors: de maria m. Biochim Biophys Acta. 2015 Sep;1852(9):1856-66. doi: 10.1016/j.bbadis.2015.06.012. Epub 2015 Jun 12. Biochim Biophys Acta. 2015. PMID: 26073431 Free article.
Correction: The use of Versius CMR for pelvic surgery: a multicentric analysis of surgical setup and early outcomes.
Sighinolfi MC, De Maria M, Meneghetti I, Felline M, Ceretti AP, Mosillo L, Catalano C, Morandi A, Calcagnile T, Panio E, Sangalli M, Turri F, Terzoni S, Assumma S, Sarchi L, Afonina M, Marconi A, Bianchi PP, Micali S, Rocco B, Gaia G. Sighinolfi MC, et al. Among authors: de maria m. World J Urol. 2024 Feb 19;42(1):86. doi: 10.1007/s00345-024-04850-4. World J Urol. 2024. PMID: 38372831 Free PMC article. No abstract available.
286 results