Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.
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.
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability
Neurobiol Dis. 2018 Oct;118:55-63. doi: 10.1016/j.nbd.2018.06.012.
Bonzanni M, DiFrancesco JC, Milanesi R, Campostrini G, Castellotti B, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Rivolta I, Gellera C, Granata T, Barbuti A, DiFrancesco D.
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
Front Mol Neurosci. 2018 Aug 6;11:269. doi: 10.3389/fnmol.2018.00269. eCollection 2018.
Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D.
Modulation of the intrinsic neuronal excitability by multifunctional liposomes tailored for the treatment of Alzheimer’s disease.
Int J Nanomedicine. 2018 Jul 11;13:4059-4071. doi: 10.2147/IJN.S161563. eCollection 2018.
Binda A, Panariti A, Barbuti A, Murano C, Dal Magro R, Masserini M, Re F, Rivolta I.
A synthetic peptide that prevents cAMP regulation in mammalian Hyperpolarization-activated Cyclic Nucleotide-regulated (HCN) channels.
Elife. 2018 Jun 20;7. pii: e35753. doi: 10.7554/eLife.35753.
Saponaro A, Cantini F, Porro A, Bucchi A, DiFrancesco D, Maione V, Donadoni C, Introini B, Mesirca P, Mangoni ME, Thiel G, Banci L, Santoro B, Moroni A.
Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene.
Stem Cell Research
Volume 27, March 2018, Pages 25-29. doi: 10.1016/j.scr.2017.12.012.
Meraviglia V, Benzoni P, Landi S, Murano C, Langione M, Motta BM, Baratto S, Silipigni R, Di Segni M, Pramstaller PP, DiFrancesco D, Gazzerro E, Barbuti A, Rossini A.
Preferential myofibroblast differentiation of cardiac mesenchymal progenitor cells in the presence of atrial fibrillation.
Transl Res. 2018 Feb;192:54-67. doi: 10.1016/j.trsl.2017.11.003
Gambini E, Perrucci GL, Bassetti B, Spaltro G, Campostrini G, Lionetti MC, Pilozzi A, Martinelli F, Faruggia A, DiFrancesco D, Barbuti A, Pompilio G.
Structure-guided design of a cell penetrating peptide preventing cAMP modulation of HCN channels
bioRxiv, 253096 doi: https://doi.org/10.1101/253096
This article is a preprint and has not been peer-reviewed
Anna Moroni, Andrea Saponaro, Francesca Cantini, Alessandro Porro, Annalisa Bucchi, Dario DiFrancesco, Vincenzo Maione, Chiara Donadoni, Bianca Introini, Pietro Mesirca, Matteo E. Mangoni, Gerhard Thiel, Lucia Banci, Bina Santoro