Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond? by Grossi, A., Rusmini, M., Cusano, R., Massidda, M., Santamaria, G., Napoli, F., Angelelli, A., Fava, D., Uva, P., Ceccherini, I., Maghnie, M.

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Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation by Di Rocco, M., Rusmini, M., Caroli, F., Madeo, A., Bertamino, M., Marre‐Brunenghi, G., Ceccherini, I.

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Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab by Signa, S, Campione, E, Rusmini, M, Chiesa, S, Grossi, A, Omenetti, A, Caorsi, R, Viglizzo, G M, Galluzzo, M, Bianchi, L, Talamonti, M, Orlandi, A, Martini, A, Ceccherini, I, Gattorno, M

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210 Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients by Griseri, P, Garrone, O, Lo Sardo, A, Monteverde, M, Rusmini, M, Tonissi, F, Merlano, M, Bruzzi, P, Ceccherini, I, Nigro, C. Lo

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Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS) by Signa, S, Rusmini, M, Campione, E, Gueli, I, Grossi, A, Omenetti, A, Bianchi, L, Martini, A, Ceccherini, I, Gattorno, M

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A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex... by Rusmini, M, Federici, S, Caroli, F, Grossi, A, Baldi, M, Obici, L, Insalaco, A, Tommasini, A, Caorsi, R, Gallo, E, Olivieri, AN, Marzano, AV, Coviello, D, Ravazzolo, R, Martini, A, Gattorno, M, Ceccherini, I

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Integration of COSMO-SkyMed and GeoEye-1 Data With Object-Based Image Analysis by Gianinetto, M., Rusmini, M., Marchesi, A., Maianti, P., Frassy, F., Dalla Via, G., Dini, L., Rota Nodari, F.

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High-resolution SAR and high-resolution optical data integration for sub-urban land-cover classification by Rusmini, M., Candiani, G., Frassy, F., Maianti, P., Marchesi, A., Nodari, F. R., Dini, L., Gianinetto, M.

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Airborne remote sensing for mapping asbestos roofs in aosta valley by Frassy, F., Candiani, G., Maianti, P., Marchesi, A., Nodari, F. R., Rusmini, M., Albonico, C., Gianinetto, M.

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Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration by Rusmini, Paola, Cortese, Katia, Crippa, Valeria, Cristofani, Riccardo, Cicardi, Maria Elena, Ferrari, Veronica, Vezzoli, Giulia, Tedesco, Barbara, Meroni, Marco, Messi, Elio, Piccolella, Margherita, Galbiati, Mariarita, Garrè, Massimiliano, Morelli, Elena, Vaccari, Thomas, Poletti, Angelo

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Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases by Tedesco, B, Cristofani, R, Ferrari, V, Cozzi, M, Rusmini, P, Casarotto, E, Chierichetti, M, Mina, F, Galbiati, M, Piccolella, M, Crippa, V, Poletti, A

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Synergic prodegradative activity of Bicalutamide and trehalose on the mutant androgen receptor responsible for spinal and bulbar muscular atrophy by Giorgetti, Elisa, Rusmini, Paola, Crippa, Valeria, Cristofani, Riccardo, Boncoraglio, Alessandra, Cicardi, Maria E, Galbiati, Mariarita, Poletti, Angelo

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Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases by Marzano, Angelo V, Ceccherini, Isabella, Gattorno, Marco, Fanoni, Daniele, Caroli, Francesco, Rusmini, Marta, Grossi, Alice, De Simone, Clara, Borghi, Orietta M, Meroni, Pier Luigi, Crosti, Carlo, Cugno, Massimo

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Flipped classroom model in descriptive statistical learning based on Malay-Deli context by Ramadhani, R., Saragih, S., Nuraini, N., Mazaly, M. R., Rusmini, R., Saragih, D. I.

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Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling by Gregianin, Elisa, Pallafacchina, Giorgia, Zanin, Sofia, Crippa, Valeria, Rusmini, Paola, Poletti, Angelo, Fang, Mingyan, Li, Zhouxuan, Diano, Laura, Petrucci, Antonio, Lispi, Ludovico, Cavallaro, Tiziana, Fabrizi, Gian M, Muglia, Maria, Boaretto, Francesca, Vettori, Andrea, Rizzuto, Rosario, Mostacciuolo, Maria L, Vazza, Giovanni

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia by Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Willis, Mary J H, Grand, Katheryn, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

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The Androgen Derivative 5 alpha -Androstane-3 beta ,17 beta -Diol Inhibits Prostate Cancer Cell Migration Through Activation of the Estrogen Receptor beta Subtype by Guerini, Vittoria, Sau, Daniela, Scaccianoce, Eugenia, Rusmini, Paola, Ciana, Paolo, Maggi, Adriana, Martini, Paolo GV, Katzenellenbogen, Benita S, Martini, Luciano, Motta, Marcella, Poletti, Angelo

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia by Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Millan, Francisca, Duman, Özgür, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Català-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Senderek, Jan

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Targeted re-sequencing in pediatric and perinatal stroke by Grossi, Alice, Severino, Mariasavina, Rusmini, Marta, Tortora, Domenico, Ramenghi, Luca A., Cama, Armando, Rossi, Andrea, Di Rocco, Maja, Ceccherini, Isabella, Bertamino, Marta, G, Amico, L, Banov, V, Capra, R, Caorsi, F, Caroli, C, Gandolfo, T, Giacomini, AC, Molinari, P, Moretti, A, Moscatelli, L, Nobili, A, Palmieri, M, Pavanello, G, Prato, A, Rimini, A, Ronchetti, S, Signa, S, Uccella

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241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15–17th February, 2019 Hoofddorp, The Netherlands by Greensmith, L., Pradat, P.F., Sorarù, G., Pennuto, M.

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