Symptomatic eating epilepsy: two novel pediatric patients and review of literature

gan Vercellino, Fabiana, Siri, Laura, Brisca, Giacomo, Scala, Marcello, Riva, Antonella, Severino, Mariasavina, Striano, Pasquale
Cyhoeddwyd yn Ital J Pediatr (2021)

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis

gan Azad, Beenish, Efthymiou, Stephanie, Sultan, Tipu, Scala, Marcello, Alvi, Javeria Raza, Neuray, Caroline, Dominik, Natalia, Gul, Asma, Houlden, Henry
Cyhoeddwyd yn J Neurol Sci (2020)

RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome

gan Romanisio, Giulia, Chelleri, Cristina, Scala, Marcello, Piccolo, Gianluca, Carlini, Barbara, Gatti, Laura, Capra, Valeria, Zara, Federico, Bersano, Anna, Pavanello, Marco, De Marco, Patrizia, Diana, Maria Cristina
Cyhoeddwyd yn Mol Genet Genomic Med (2021)

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

gan Scala, Marcello, Torella, Annalaura, Severino, Mariasavina, Morana, Giovanni, Castello, Raffaele, Accogli, Andrea, Verrico, Antonio, Vari, Maria Stella, Cappuccio, Gerarda, Pinelli, Michele, Vitiello, Giuseppina, Terrone, Gaetano, D’Amico, Alessandra, Nigro, Vincenzo, Capra, Valeria
Cyhoeddwyd yn Eur J Hum Genet (2019)

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

gan Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry
Cyhoeddwyd yn J Med Genet (2021)

Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum

gan Riva, Antonella, Gambadauro, Antonella, Dipasquale, Valeria, Casto, Celeste, Ceravolo, Maria Domenica, Accogli, Andrea, Scala, Marcello, Ceravolo, Giorgia, Iacomino, Michele, Zara, Federico, Striano, Pasquale, Cuppari, Caterina, Di Rosa, Gabriella, Cutrupi, Maria Concetta, Salpietro, Vincenzo, Chimenz, Roberto
Cyhoeddwyd yn Int J Mol Sci (2021)

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

gan Amadori, Elisabetta, Scala, Marcello, Cereda, Giulia Sofia, Vari, Maria Stella, Marchese, Francesca, Di Pisa, Veronica, Mancardi, Maria Margherita, Giacomini, Thea, Siri, Laura, Vercellino, Fabiana, Serino, Domenico, Orsini, Alessandro, Bonuccelli, Alice, Bagnasco, Irene, Papa, Amanda, Minetti, Carlo, Cordelli, Duccio Maria, Striano, Pasquale
Cyhoeddwyd yn Ital J Pediatr (2020)

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

gan Iacomino, Michele, Baldassari, Simona, Tochigi, Yuki, Kośla, Katarzyna, Buffelli, Francesca, Torella, Annalaura, Severino, Mariasavina, Paladini, Dario, Mandarà, Luana, Riva, Antonella, Scala, Marcello, Balagura, Ganna, Accogli, Andrea, Nigro, Vincenzo, Minetti, Carlo, Fulcheri, Ezio, Zara, Federico, Bednarek, Andrzej K., Striano, Pasquale, Suzuki, Hiroetsu, Salpietro, Vincenzo
Cyhoeddwyd yn Front Neurosci (2020)

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy

gan Efthymiou, Stephanie, Dutra‐Clarke, Marina, Maroofian, Reza, Kaiyrzhanov, Rauan, Scala, Marcello, Reza Alvi, Javeria, Sultan, Tipu, Christoforou, Marilena, Tuyet Mai Nguyen, Thi, Mankad, Kshitij, Vona, Barbara, Rad, Aboulfazl, Striano, Pasquale, Salpietro, Vincenzo, Guillen Sacoto, Maria J., Zaki, Maha S., Gleeson, Joseph G., Campeau, Philippe M., Russell, Bianca E., Houlden, Henry
Cyhoeddwyd yn Epilepsia (2021)

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

gan Scala, Marcello, Schiavetti, Irene, Madia, Francesca, Chelleri, Cristina, Piccolo, Gianluca, Accogli, Andrea, Riva, Antonella, Salpietro, Vincenzo, Bocciardi, Renata, Morcaldi, Guido, Di Duca, Marco, Caroli, Francesco, Verrico, Antonio, Milanaccio, Claudia, Viglizzo, Gianmaria, Traverso, Monica, Baldassari, Simona, Scudieri, Paolo, Iacomino, Michele, Piatelli, Gianluca, Minetti, Carlo, Striano, Pasquale, Garrè, Maria Luisa, De Marco, Patrizia, Diana, Maria Cristina, Capra, Valeria, Pavanello, Marco, Zara, Federico
Cyhoeddwyd yn Cancers (Basel) (2021)

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

gan Scala, Marcello, Mojarrad, Majid, Riazuddin, Saima, Brigatti, Karlla W, Ammous, Zineb, Cohen, Julie S, Hosny, Heba, Usmani, Muhammad A, Shahzad, Mohsin, Riazuddin, Sheikh, Stanley, Valentina, Eslahi, Atiye, Person, Richard E, Elbendary, Hasnaa M, Comi, Anne M, Poskitt, Laura, Salpietro, Vincenzo, Genomics, Queen Square, Rosenfeld, Jill A, Williams, Katie B, Marafi, Dana, Xia, Fan, Biderman Waberski, Marta, Zaki, Maha S, Gleeson, Joseph, Puffenberger, Erik, Houlden, Henry, Maroofian, Reza
Cyhoeddwyd yn Brain (2020)

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

gan Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur S, Mojarrad, Majid, Khashab, Heba El, deHoll, Leigh, Yue, Wyatt, Alsaif, Hessa S, Zanetti, Maria N, Bello, Oscar, Person, Richard, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh H, Efthymiou, Stephanie, El-Bassyouni, Hala T, Soliman, Doaa R, Tekes, Selahattin, Ozer, Leyla, Baltaci, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda S, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya, Fowzan S, Houlden, Henry
Cyhoeddwyd yn Brain (2020)

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

gan Scala, Marcello, Chua, Geok Lin, Chin, Cheen Fei, Alsaif, Hessa S., Borovikov, Artem, Riazuddin, Saima, Riazuddin, Sheikh, Chiara Manzini, M., Severino, Mariasavina, Kuk, Alvin, Fan, Hao, Jamshidi, Yalda, Toosi, Mehran Beiraghi, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Dadali, Elena, Baydakova, Galina, Konovalov, Fedor, Lozier, Ekaterina, O’Connor, Emer, Sabr, Yasser, Alfaifi, Abdullah, Ashrafzadeh, Farah, Striano, Pasquale, Zara, Federico, Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza, Silver, David L.
Cyhoeddwyd yn Eur J Hum Genet (2020)

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations

gan Riva, Antonella, Orsini, Alessandro, Scala, Marcello, Taramasso, Vittoria, Canafoglia, Laura, d’Orsi, Giuseppe, Di Claudio, Maria Teresa, Avolio, Carlo, D’Aniello, Alfredo, Elia, Maurizio, Franceschetti, Silvana, Di Gennaro, Giancarlo, Bisulli, Francesca, Tinuper, Paolo, Tappatà, Maria, Romeo, Antonino, Freri, Elena, Marini, Carla, Costa, Cinzia, Sofia, Vito, Ferlazzo, Edoardo, Magaudda, Adriana, Veggiotti, Pierangelo, Gennaro, Elena, Pistorio, Angela, Minetti, Carlo, Bianchi, Amedeo, Striano, Salvatore, Michelucci, Roberto, Zara, Federico, Minassian, Berge Arakel, Striano, Pasquale
Cyhoeddwyd yn J Neurol Sci (2021)

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

gan Ghosh, Shereen G., Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W., Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A., Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A., Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C. E., Lane Rutledge, S., Goodloe, Dana H., McDonald, Marie T., Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T., Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y., Zaki, Maha S., Maroofian, Reza, Gleeson, Joseph G.
Cyhoeddwyd yn Eur J Hum Genet (2020)

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

gan Carvill, Gemma L., Helbig, Katherine L., Myers, Candace T., Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N., Guida, Brandon S., Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A., Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O., Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G, Caruso, Paul A., Lin, Angela E., Jansen, Floor E., Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H., Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie-Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E., Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla-Lopez, Sergio, Mefford, Heather C., Kruer, Michael C.
Cyhoeddwyd yn Hum Mutat (2020)

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

gan Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán‐Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl‐Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik‐Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan
Cyhoeddwyd yn EMBO J (2018)

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

gan 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, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, 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, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, 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, 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, Pierson, Tyler Mark, Senderek, Jan
Cyhoeddwyd yn Brain (2021)