CASTELLOTTI, BARBARA
CASTELLOTTI, BARBARA
Universita' degli Studi di MILANO
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations
2024 M. Tsai, H. Ke, W. Lin, F. Nian, C. Huang, H. Cheng, C. Hsu, T. Granata, C. Chang, B. Castellotti, S. Lin, F.M. Doniselli, C. Lu, S. Franceschetti, F. Ragona, P. Hou, L. Canafoglia, C. Tung, M. Lee, W. Wang, J. Tsai
Further insights into Allan-Herndon-Dudley syndrome: a novel SLC16A2 splice site variant
2024 L. Esposito, A. Mauri, F. Rey, E. Maghraby, B. Castellotti, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda
A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet
2023 J.C. Difrancesco, F. Ragona, C. Murano, A. Frosio, D. Melgari, A. Binda, S. Calamaio, R. Prevostini, M. Mauri, L. Canafoglia, B. Castellotti, G. Messina, C. Gellera, R. Previtali, P. Veggiotti, R. Milanesi, A. Barbuti, R. Solazzi, E. Freri, T. Granata, I. Rivolta
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
2020 S. Groeneweg, F. van Geest, A. Abaci, A. Alcantud, G. Ambegaonkar, C. Armour, P. Bakhtiani, D. Barca, E. Bertini, I. van Beynum, N. Brunetti-Pierri, M. Bugiani, M. Cappa, G. Cappuccio, B. Castellotti, C. Castiglioni, K. Chatterjee, I. de Coo, R. Coutant, D. Craiu, P. Crock, C. Degoede, K. Demir, A. Dica, P. Dimitri, A. Dolcetta-Capuzzo, M. Dremmen, R. Dubey, A. Enderli, J. Fairchild, J. Gallichan, B. George, E. Gevers, A. Hackenberg, Z. Halasz, B. Heinrich, T. Huynh, A. Klosowska, M. van der Knaap, M. van der Knoop, D. Konrad, D. Koolen, H. Krude, A. Lawson-Yuen, J. Lebl, M. Linder-Lucht, C. Lorea, C. Lourenco, R. Lunsing, G. Lyons, J. Malikova, E. Mancilla, A. Mcgowan, V. Mericq, F. Lora, C. Moran, K. Muller, I. Oliver-Petit, L. Paone, P. Paul, M. Polak, F. Porta, F. Poswar, C. Reinauer, K. Rozenkova, T. Menevse, P. Simm, A. Simon, Y. Singh, M. Spada, J. van der Spek, M. Stals, A. Stoupa, G. Subramanian, D. Tonduti, S. Turan, C. den Uil, J. Vanderniet, A. van der Walt, J. Wemeau, J. Wierzba, M. de Wit, N. Wolf, M. Wurm, F. Zibordi, A. Zung, N. Zwaveling-Soonawala, W. Visser
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency
2019 S. Masnada, S. Groenweg, V. Saletti, L. Chiapparini, B. Castellotti, E. Salsano, W.E. Visser, D. Tonduti
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability
2018 G. Campostrini, J.C. Difrancesco, B. Castellotti, R. Milanesi, T. Gnecchi-Ruscone, M. Bonzanni, A. Bucchi, M. Baruscotti, C. Ferrarese, S. Franceschetti, L. Canafoglia, F. Ragona, E. Freri, A. Labate, A. Gambardella, C. Costa, C. Gellera, T. Granata, A. Barbuti, D. Di Francesco
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