부산대학교 도서관

Rosenhahn, Erik; O'Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowsan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; Ebrahimi Nasab, Mahya; Hussien, Haytham; Omar, Tarek E. I.; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M. H.; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R.; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E. X.; Maroofian, Reza; Platzer, Konrad

American Journal of Human Genetics. 109(8):1421-1435

Di Letto P.; Budillon A.; Rahman S. I.; Del Vecchio Blanco F.; Zanobio M.; Scarpato M.; Russo M.; Onore M. E.; Piluso G.; Nigro V.; Banfi S.; Torella A.; Morleo M.; Pierri N. B.; Parenti G.; Spampanato C.; Pinelli M.; Vitiello G.; Selicorni A.; Mariani M.; Daolio C.; Capra V.; Accogli A.; Scala M.; Nardecchia F.; Galosi S.; Mastrangelo M.; Milani D.; Romano C.; Failla P.; Greco D.; Pantaleoni C.; Ciaccio C.; D'Arrigo S.; Coppola A.; Mattina T.; Zollino M.; Pasquetti D.; Erario F. L.; Tummolo A.; Santoro C.; Grandone A.; Garavelli L.; Marini C.; Bigoni S.; Piscopo C.; Trabacca A.; De Rinaldis M.; Scarano G.

American Journal of Medical Genetics Part A. 197

Torella, Annalaura; Ricca, Ivana; Piluso, Giulio; Galatolo, Daniele; De Michele, Giuseppe; Zanobio, Mariateresa; Trovato, Rosanna; De Michele, Giovanna; Zeuli, Roberta; Pane, Chiara; Cocozza, Sirio; Saccà, Francesco; Santorelli, Filippo M; Nigro, Vincenzo; Filla, Alessandro

J Neurol
Journal of Neurology

Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Nardecchia F; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Cappuccio G; Child Neurology, Department of Translational Medicine, Federico II University, Naples, Italy.; Onore ME; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Di Letto P; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Rahman SI; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Terrone G; Child Neurology, Department of Translational Medicine, Federico II University, Naples, Italy.; Ugga L; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; De Giorgi A; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Cas MD; Department of Health Sciences, University of Milan, Milano, Italy.; Trinchera M; Department of Medicine and Surgery (DMC), University of Insubria, Varese, Italy.; Leuzzi V; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Piluso G; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Torri, F.; Torella, A.; Ricci, G.; Ciurli, B.; Piluso, G.; Demidov, G.; Onore, M.; Spampanato, C.; Zanobio, M.; Rahman, S.; Cetrangolo, V.; Nigro, V.; Siciliano, G.

Neuromuscular Disorders. 43

Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; null, null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven

NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6

Di Letto P; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; De Leonibus C; Department of Health Sciences, University of Basilicata, Potenza, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Palmieri FP; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Scarpato M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Cetrangolo V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Rahman SI; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Selicorni A; Pediatric Department, 'Mariani' Center for Fragile Child, ASST Lariana, Sant'Anna Hospital, Como, Italy.; Mariani M; Pediatric Department, 'Mariani' Center for Fragile Child, ASST Lariana, Sant'Anna Hospital, Como, Italy.; D'Arrigo S; Department of Pediatric Neurosciences, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.; Ciaccio C; Department of Pediatric Neurosciences, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.; Milani D; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.; Ajmone PF; Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, Milan, Italy.; Morleo M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Spampanato C; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Piluso G; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Zollino M; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Unit of Medical Genetics, Department of Laboratory and Infectious Disease Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; L'Erario FF; Unit of Medical Genetics, Department of Laboratory and Infectious Disease Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Greco D; Oasi Research Institute-IRCCS, via Conte Ruggero 73, Troina, Italy.; Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Romano F; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Terrone G; Department of Translational Medicine, University of Naples 'Federico II', Italy.; De Falco A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Italy.; Paolella C; Department of Advanced Biomedical Sciences, University of Naples Federico II, Italy.; Mastrangelo M; Woman/Child Health and Urological Sciences Department, Sapienza University of Rome, Via dei Sabelli 108, Italy; and.; Ricciardi G; Department of Human Neuroscience, Sapienza-University of Rome, Italy.; Brunetti-Pierri N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Italy.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Fioretti T.; Cevenini A.; ZANOBIO, MARIATERESA; Raia M.; Sarnataro D.; Salvatore F.; Esposito G.

Cellular Oncology. 42:829-845

Peduto C; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Zeuli R; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.; Daolio C; Pediatric Unit, Carlo Poma Hospital, Mantova, Italy.; Spinelli AM; Regional Coordinating Center for Rare Diseases, Udine, Italy.; Zampieri S; Regional Coordinating Center for Rare Diseases, Udine, Italy.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Merlini L; Department of Biomedical and Neuromotor Science, University of Bologna, DIBINEM, 40136 Bologna, Italy.; Sabatelli P; CNR-Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', Via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS, Istituto Ortopedico Rizzoli, Via di Barbiano 1/10, 40136 Bologna, Italy.; Cenni V; CNR-Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', Via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS, Istituto Ortopedico Rizzoli, Via di Barbiano 1/10, 40136 Bologna, Italy.; Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Via L. De Crecchio 7, 80138 Naples, Italy.; Di Martino A; Department of Biomedical and Neuromotor Science, University of Bologna, DIBINEM, 40136 Bologna, Italy.; Ist Orthopedic Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Traina F; Department of Biomedical and Neuromotor Science, University of Bologna, DIBINEM, 40136 Bologna, Italy.; Ortopedia-Traumatologia e Chirurgia Protesica e dei Reimpianti d'anca e di Ginocchio, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Faldini C; Department of Biomedical and Neuromotor Science, University of Bologna, DIBINEM, 40136 Bologna, Italy.; Ist Orthopedic Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Via L. De Crecchio 7, 80138 Naples, Italy.; Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Via L. De Crecchio 7, 80138 Naples, Italy.; Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Bove R; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Novelli M; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Ricciardi G; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Pollini L; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Masuelli L; Department of Experimental Medicine, Sapienza University, Rome, Italy.; Bei R; Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy.; Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Pisani F; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Leuzzi V; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Galosi S; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE; In Process

Gargano G.; Caletti E.; Perlini C.; Turtulici N.; Bellani M.; Bonivento C.; Garzitto M.; Siri F. M.; Longo C.; Bonetto C.; Cristofalo D.; Scocco P.; Semrov E.; Preti A.; Lazzarotto L.; Gardellin F.; Lasalvia A.; Ruggeri M.; Marini A.; Brambilla P.; Bertani M. E.; Bissoli S.; De Santi K.; Lunardi S.; Negretto V.; Poli S.; Tosato S.; Zamboni M. G.; Ballarin M.; De Girolamo G.; Fioritti A.; Neri G.; Pileggi F.; Rucci P.; Chiavetto L. B.; Scasselatti C.; Zanardini R.; Bertoldo A.; Marinelli V.; Rambaldelli G.; Bardella S.; Lamonaca D.; Lunardon M.; Magnabosco R.; Martucci M.; Nicolau S.; Nifosi F.; Pavanati M.; Rossi M.; Piazza C.; Piccione G.; Sala A.; Sale A.; Stefani B.; Zotos S.; Balbo M.; Boggian I.; Ceccato E.; Dall'Agnola R.; Girotto B.; Goss C.; Leoni R.; Mai A.; Pasqualini A.; Roccato S.; Rossi A.; Strizzolo S.; Urbani A.; Aldi F.; Bianchi B.; Cappellari P.; Conti R.; De Battisti L.; Lazzarin E.; Merlin S.; Migliorini G.; Pozzan T.; Sarto L.; Visona S.; Brazzoli A.; Campi A.; Carmagnani R.; Giambelli S.; Gianella A.; Lunardi L.; Madaghiele D.; Maestrelli P.; Paiola L.; Posteri E.; Viola L.; Zamberlan V.; Zenari M.; Zanoni M.; Bonadonna G.; Bonomo M.; Santonastaso P.; Cremonese C.; Veronese A.; Anderle P.; Angelozzi A.; Baron I. A. G.; Candeago E. B. F.; Castelli F.; Chieco M.; Di Costanzo E.; Derossi M.; Doriguzzi M.; Galvano O.; Lattanzi M.; Lezzi R.; Marcato M.; Marcolin A.; Marini F.; Matranga M.; Scalabrin D.; Zucchetto M.; Zadro F.; Austoni G.; Bianco M.; Bordino F.; Dario F.; De Risio A.; Gatto A.; Grana S.; Favero E.; Franceschini A.; Friederici S.; Marangon V.; Pascolo M.; Ramon L.; Zambolin S.; Riolo R.; Buffon A.; Di Bortolo E.; Fortin S.; Matarrese F.; Mogni S.; Codemo N.; Russi A.; Silvestro A.; Turella E.; Viel P.; Dominoni A.; Andreose L.; Boemio M.; Bressan L.; Cabbia A.; Canesso E.; Cian R.; Dal Piccol C.; Pasqua M. M. D.; Di Prisco A.; Mantellato L.; Luison M.; Morgante S.; Santi M.; Sacillotto M.; Scabbio M.; Sponga P.; Sguotto M.; Stach F.; Vettorato M.; Martinello G.; Dassie F.; Marino S.; Cibiniel L.; Masetto I.; Cabianca O.; Valente A.; Caberlotto L.; Passoni A.; Flumian P.; Daniel L.; Gion M.; Stanziale S.; Alborino F.; Bortolozzo V.; Bacelle L.; Bicciato L.; Basso D.; Navaglia F.; Manoni F.; Ercolin M.; Giubilini F.; Imbesi M.; Leuci E.; Mazzi F.; Anelli S.; Amore M.; Bigi L.; Britta W.; Anna G. B.; Bonatti U.; Borziani M.; Crosato S.; Fabris I.; Galluccio R.; Galeotti M.; Gozzi M.; Greco V.; Guagnini E.; Pagani S.; Maccherozzi S.; Malvasi R.; Marchi F.; Melato E.; Mazzucchi E.; Marzullo F.; Pellegrini P.; Petrolini N.; Volta P.; Bonara F.; Brusamonti E.; Croci R.; Flamia I.; Fontana F.; Losi R.; Marchioro R.; Raffaini L.; Ruju L.; Saginario A.; Tondelli M.; Marrama D.; Bernardelli L.; Bonacini F.; Florindo A.; Merli M.; Nappo P.; Sola L.; Tondelli O.; Tonna M.; Torre M.; Tosatti M.; Venturelli G.; Zampolla D.; Bernardi A.; Cavalli C.; Cigala L.; Ciraudo C.; Di Bari A.; Ferri L.; Gombi F.; Leurini S.; Mandatelli E.; Maccaferri S.; Oroboncoide M.; Pisa B.; Ricci C.; Poggi E.; Zurlini C.; Malpeli M.; Colla R.; Teodori E.; Vecchia L.; D'Andrea R.; Trenti T.; Paolini P.; Carpeggiani P.; Ghigi D.; Gagliostro M.; Pratelli M.; Antonelli A.; Battistini L.; Bellini F.; Bonini E.; Capelli C. B. R.; DiDomizio C.; Drei C.; Fucci G.; Gualandi A.; Grazia M. R.; Losi A. M.; Mazzoni F. M. P.; Marangoni D.; Monna G.; Morselli M.; Oggioni A.; Oprandi S.; Paganelli W.; Passerini M.; Piscitelli M.; Reggiani G.; Rossi G.; Salvatori F.; Trasforini S.; Uslenghi C.; Veggetti S.; Bartolucci G.; Baruffa R.; Bertelli R.; Borghi L.; Ciavarella P.; Paltrinieri E.; Rizzardi F.; Serra P.; Suzzi D.; Arienti P.; Aureli F.; Avanzi R.; Callegari V.; Corsino A.; Host P.; Michetti R.; Rizzo F.; Simoncelli P.; Soldati E.; Succi E.; Bertozzi M.; Canetti E.; Cavicchioli L.; Ceccarelli E.; Cenni S.; Marzola G.; Gallina V.; Leoni C.; Olivieri A.; Piccolo E.; Ravagli S.; Russo R.; Tedeschini D.; Verenini M.; Abram W.; Granata V.; Curcio A.; Guerra G.; Granini S.; Natali L.; Montanari E.; Pasi F.; Ventura U.; Valenti S.; Francesca M.; Farneti R.; Ravagli P.; Floris R.; Maroncelli O.; Volpones G.; Casali D.; Miceli M.; Bencini A.; Cellini M.; De Biase L.; Barbara L.; Charles L.; Pratesi C.; Tanini A.; Loparrino R.; Ulivelli C.; Cussoto C.; Dei N.; Fumanti E.; Pantani M.; Zeloni G.; Bellini R.; Cellesi R.; Dorigo N.; Gulli P.; Ialeggio L.; Pisanu M.; Rinaldi G.; Konze A.; Cocchi A.; Meneghelli A.; Frova M.; Monzani E.; Zanobio A.; Malagoli M.; Pagani R.; Barbera S.; Morganti C.; Amade E. S.; Brambilla V.; Montanari A.; Caterina G.; Lopez C.; Marocchi A.; Moletta A.; Sberna M.; Cascio M. T.; Scarone S.

PLoS One
PLoS ONE, Vol 17, Iss 8, p e0272873 (2022)

Fortunato F; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.; Bianchi F; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.; Ricci G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.; Torri F; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.; Gualandi F; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.; Neri M; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.; Farnè M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.; Giannini F; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.; Malandrini A; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.; Volpi N; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.; Lopergolo D; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.; Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università Degli Studi Di Milano, Milan, Italy.; Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università Degli Studi Di Milano, Milan, Italy.; Verde F; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università Degli Studi Di Milano, Milan, Italy.; Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Fenu S; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Bonanno S; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Nigro V; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Peduto C; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.; D'Ambrosio P; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.; Zeuli R; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.; Zanobio M; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.; Picillo E; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.; Servidei S; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Primiano G; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Sancricca C; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Sciacco M; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Brusa R; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Filosto M; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; ASST Spedali Civili Di Brescia, Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.; Cotti Piccinelli S; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; ASST Spedali Civili Di Brescia, Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.; Pegoraro E; Department of Neuroscience, University of Padova, Padua, Italy.; Mongini T; Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Solero L; Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Gadaleta G; Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Brusa C; Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Minetti C; Pediatric Neurology Unit and Muscle Unit, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Sansone VA; The NEMO (NEuroMuscular Omniservice) Clinical Center, Milan, Italy.; Neurorehabilitation Unit, University of Milan, Milan, Italy.; Lunetta C; The NEMO (NEuroMuscular Omniservice) Clinical Center, Milan, Italy.; Zanolini A; The NEMO (NEuroMuscular Omniservice) Clinical Center, Milan, Italy.; Toscano A; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; ERN-NMD Center of Messina, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Pugliese A; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Nicocia G; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Diodato D; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Atalaia A; Service of Neuromyology, APHP-GH Pitié-Salpêtrière, Sorbonne Université, Paris, France.; Evangelista T; Neuromuscular Morphology Unit, Institute of Myology, GHU Pitié-Salpêtrière, Sorbonne Université, Paris, France.; Siciliano G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.; Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy. fla@unife.it.; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy. fla@unife.it.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Petrogiannakis G; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Department of Environmental, Biological and Pharmaceutical Science and Technology, University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, 81100 Caserta, Italy.; Guadagnino I; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Negueruela S; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Di Guida M; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Marrocco E; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Pizzo M; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138 Naples, Italy.; Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138 Naples, Italy.; Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138 Naples, Italy.; Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, University of Campania 'Luigi Vanvitelli', Via Pansini 5, 80131 Naples, Italy.; Medina DL; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Department of Medical and Translational Science, Federico II University, 80131 Naples, Italy.; Carrella S; Biology and Evolution of Marine Organisms Department, Stazione Zoologica Anton Dohrn, Villa Comunale, 80133 Naples, Italy.; Banfi S; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138 Naples, Italy.

Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium: Print ISSN: 2162-2531 (Print) Linking ISSN: 21622531 NLM ISO Abbreviation: Mol Ther Nucleic Acids Subsets: PubMed not MEDLINE

Satolli S; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Piazza Luigi Miraglia, 2, 80138, Naples, Italy.; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.; Di Fonzo A; Neurology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.; Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Pezzullo G; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Piazza Luigi Miraglia, 2, 80138, Naples, Italy.; Neuroradiology Unit, University of Campania 'Luigi Vanvitelli', Naples, Italy.; De Micco R; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Piazza Luigi Miraglia, 2, 80138, Naples, Italy. rosa.demicco@unicampania.it.

Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Mastromoro G; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.; Santoro C; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli' Naples, Italy; Clinic of Child and Adolescent Neuropsychiatry, Department of Physical and Mental Health, and Preventive Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Motta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Sorrentino U; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy.; Daniele P; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Peduto C; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy; Department of Medical Genetics, AP-HP, Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Petrizzelli F; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Tripodi M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Pinna V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy.; Rotundo G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Bellacchio E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Lepri F; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Farina A; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy.; D'Asdia MC; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Biagini T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Petracca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Castori M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy.; Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico,' Tricase, Italy.; Traficante G; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy.; Tarani L; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy.; Fontana P; Medical Genetics Unit - P.O. Gaetano Rummo-A.O.R.N. San Pio, Benevento, Italy.; Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.; Paparella R; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy.; Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Scala I; Department of Maternal and Child Health, Section of Pediatrics, Federico II University, Naples, Italy.; Dentici ML; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Trevisan V; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Cecconi A; Ambulatorio Integrato di Genetica Medica, USL Toscana Centro, Florence, Italy.; Giustini S; Unit of Dermatology, Department of Internal Medicine and Medical Specialties, 'La Sapienza' University of Rome, Rome, Italy.; Pizzuti A; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.; Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy.; Novelli A; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Genuardi M; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Department of Laboratory and Infectious Science, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy.; Digilio MC; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Papi L; Department of Experimental and Clinical, Medical Genetics Unit, Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy.; Perrotta S; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli' Naples, Italy.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Castellanos E; Clinical Genomics Research Group, Germans Trias i Pujol Research Institute (IGTP), Can Ruti Campus, Badalona, Barcelona, Spain; Clinical Genomics Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Germans Trias i Pujol University Hospital (HGTP), Can Ruti Campus, Badalona, Barcelona, Spain.; Mazza T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy; Institute of Pediatric Research IRP, Fondazione Città della Speranza, Padua, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net.; Piluso G; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy.; De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. Electronic address: a.deluca@css-mendel.it.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Fioretti T; CEINGE Advanced Biotechnologies Franco Salvatore s.c. a r.l., Naples, Italy.; Zanobio M; Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, Naples, Italy.; Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Raia M; CEINGE Advanced Biotechnologies Franco Salvatore s.c. a r.l., Naples, Italy.; Errichiello S; CEINGE Advanced Biotechnologies Franco Salvatore s.c. a r.l., Naples, Italy.; Izzo B; CEINGE Advanced Biotechnologies Franco Salvatore s.c. a r.l., Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, Naples, Italy.; Cattaneo F; Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, Naples, Italy.; Ammendola R; Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, Naples, Italy.; Cevenini A; CEINGE Advanced Biotechnologies Franco Salvatore s.c. a r.l., Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, Naples, Italy.; Esposito G; CEINGE Advanced Biotechnologies Franco Salvatore s.c. a r.l., Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, Naples, Italy.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8305874 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0844 (Electronic) Linking ISSN: 02636484 NLM ISO Abbreviation: Cell Biochem Funct Subsets: MEDLINE

L, Lonzi; M E, Zanobio; E, Capitani

Brain and Language. 47:32-51

Anna Basso; Carmelina Razzano; Pietro Faglioni; M. Ester Zanobio

Aphasiology. 4:185-195

Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Zanobio M; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Zeuli R; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Del Vecchio Blanco F; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Savarese M; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Giugliano T; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Garofalo A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Piluso G; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Politano L; Dipartimento di Medicina Sperimentale, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Nigro V; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE