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Phenotypic Spectrum of HCN4 Mutations: A Clinical Case.
Servatius H, Porro A, Pless SA, Schaller A, Asatryan B, Tanner H, de Marchi SF, Roten L, Seiler J, Haeberlin A, Baldinger SH, Noti F, Lam A, Fuhrer J, Moroni A, Medeiros-Domingo A. Servatius H, et al. Among authors: moroni a. Circ Genom Precis Med. 2018 Feb;11(2):e002033. doi: 10.1161/CIRCGEN.117.002033. Circ Genom Precis Med. 2018. PMID: 29440115 Free article. No abstract available.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: moroni a. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
Gating movements and ion permeation in HCN4 pacemaker channels.
Saponaro A, Bauer D, Giese MH, Swuec P, Porro A, Gasparri F, Sharifzadeh AS, Chaves-Sanjuan A, Alberio L, Parisi G, Cerutti G, Clarke OB, Hamacher K, Colecraft HM, Mancia F, Hendrickson WA, Siegelbaum SA, DiFrancesco D, Bolognesi M, Thiel G, Santoro B, Moroni A. Saponaro A, et al. Among authors: moroni a. Mol Cell. 2021 Jul 15;81(14):2929-2943.e6. doi: 10.1016/j.molcel.2021.05.033. Epub 2021 Jun 23. Mol Cell. 2021. PMID: 34166608 Free PMC article.
406 results