Sfoglia per Autore
HCN1 mutation spectrum : From neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
2018 C. Marini, A. Porro, A. Rastetter, C. Dalle, I. Rivolta, D. Bauer, R. Oegema, C. Nava, E. Parrini, D. Mei, C. Mercer, R. Dhamija, C. Chambers, C. Coubes, J. Thevenon, P. Kuentz, S. Julia, L. Pasquier, C. Dubourg, W. Carre, A. Rosati, F. Melani, T. Pisano, M. Giardino, A.M. Innes, Y. Alembik, S. Scheidecker, M. Santos, S. Figueiroa, C. Garrido, C. Fusco, D. Frattini, C. Spagnoli, A. Binda, T. Granata, F. Ragona, E. Freri, S. Franceschetti, L. Canafoglia, B. Castellotti, C. Gellera, R. Milanesi, M.M. Mancardi, D.R. Clark, F. Kok, K.L. Helbig, S. Ichikawa, L. Sadler, J. Neupauerova, P. Lassuthova, K. Sterbova, A. Laridon, E. Brilstra, B. Koeleman, J.R. Lemke, F. Zara, P. Striano, J. Soblet, G. Smits, N. Deconinck, A. Barbuti, D. Difrancesco, E. Leguern, R. Guerrini, B. Santoro, K. Hamacher, G. Thiel, A. Moroni, J.C. Difrancesco, C. Depienne
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability
2018 M. Bonzanni, J.C. Difrancesco, R. Milanesi, G. Campostrini, B. Castellotti, A. Bucchi, M. Baruscotti, C. Ferrarese, S. Franceschetti, L. Canafoglia, F. Ragona, E. Freri, A. Labate, A. Gambardella, C. Costa, I. Rivolta, C. Gellera, T. Granata, A. Barbuti, D. Di Francesco
Human iPSC modeling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes
2019 P. Benzoni, G. Campostrini, S. Landi, V. Bertini, E. Marchina, M. Iascone, G. Ahlberg, M.S. Olesen, E. Crescini, C. Mora, G. Bisleri, C. Muneretto, R. Ronca, M. Presta, P.L. Poliani, G. Piovani, R. Verardi, E.D. Pasquale, A. Consiglio, A. Raya, E. Torre, A.M. Lodrini, R. Milanesi, M. Rocchetti, M. Baruscotti, D. Difrancesco, M. Memo, A. Barbuti, P. Dell'Era
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line
2019 N. Malerba, P. Benzoni, G.M. Squeo, R. Milanesi, F. Giannetti, L.G. Sadleir, G. Poke, B. Augello, A.I. Croce, A. Barbuti, G. Merla
Functional Characterization of a Novel Scn5a Mutation Associated With the Brugada Syndrome
2019 A. Frosio, D. Molla, G. Bertoli, C. Bazzini, R. Milanesi, F. Gennaro, A.F. Barbuti, A. Bucchi, L. Moretti, P. Marchese, D. DI FRANCESCO, M. Baruscotti
Animal Bio Arkivi: establishment of a phenotype and tissue repository for farm animals and pets at the University of Milan
2021 M.L.E. Longeri, L. Zaniboni, M.C.S. Cozzi, R. Milanesi, A. Bagnato
The funny current: Even funnier than 40 years ago. Uncanonical expression and roles of {HCN}/f channels all over the body
2021 P. Benzoni, G. Bertoli, F. Giannetti, C. Piantoni, R. Milanesi, M.M. Pecchiari, A.F. Barbuti, M. Baruscotti, A. Bucchi
Copy number variants in four Italian turkey breeds
2021 M.G. Strillacci, S.P. Marelli, R. Milanesi, L. Zaniboni, C. Punturiero, S. Cerolini
A detailed characterization of the hyperpolarization-activated "funny" current (If) in human-induced pluripotent stem cell (iPSC)-derived cardiomyocytes with pacemaker activity
2021 F. Giannetti, P. Benzoni, G. Campostrini, R. Milanesi, A. Bucchi, M. Baruscotti, P. Dell'Era, A. Rossini, A. Barbuti
Dual role of miR-1 in the development and function of sinoatrial cells
2021 P. Benzoni, L. Nava, F. Giannetti, G. Guerini, A. Gualdoni, C. Bazzini, R. Milanesi, A. Bucchi, M. Baruscotti, A. Barbuti
Allele drop-out cases in screening of HCM associated ALMS1 gene variant in Italian Sphynx cats
2022 M. Longeri, M.E. Turba, P. Ferrari, R. Milanesi, F. Gentilini
Assessing major genes allele frequencies and the genetic diversity of the native Aosta cattle female population
2023 F. Bernini, C. Punturiero, M. Vevey, V. Blanchet, R. Milanesi, A. Delledonne, A. Bagnato, M.G. Strillacci
HCM-ASSOCIATED ALMS1 VARIANT: ALLELE DROP-OUT AND FREQUENCY IN ITALIAN SPHYNX CATS
2023 M.E. Turba, P. Ferrari, R. Milanesi, F. Gentilini, M. Longeri
Antibiotic treatments and somatic cell count as phenotype to map QTL for mastitis susceptibility in Holstein cattle breed
2023 M. Giuseppina Strillacci, C. Punturiero, R. Milanesi, F. Bernini, T. Mason, A. Bagnato
Genomic approach to manage genetic variability in dairy farms
2023 C. Punturiero, R. Milanesi, F. Bernini, A. Delledonne, A. Bagnato, M.G. Strillacci
Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations
2024 P. Benzoni, E. Gazzerro, C. Fiorillo, S. Baratto, C. Bartolucci, S. Severi, R. Milanesi, M. Lippi, M. Langione, C. Murano, C. Meoni, V. Popolizio, A. Cospito, M. Baruscotti, A. Bucchi, A. Barbuti
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile