부산대학교 도서관

Piovan, R.; Agostinetti, P.; Bustreo, C.; Cavazzana, R.; Escande, D.F.; Gaio, E.; Lunardon, F.; Maistrello, A.; Marrelli, L.; Puiatti, M.E.; Valisa, M.; Zollino, G.; Zuin, M.

IEEE Transactions on Plasma Science IEEE Trans. Plasma Sci. Plasma Science, IEEE Transactions on. 50(11):4311-4317 Nov, 2022

Giuliani, U.; Agostini, M.; Bustreo, C.; Zollino, G.

IEEE Access Access, IEEE. 11:131178-131190 2023

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

Piovan, R.; Agostinetti, P.; Bustreo, C.; Cavazzana, R.; Escande, D.; Gaio, E.; Lunardon, F.; Maistrello, A.; Puiatti, M.E.; Valisa, M.; Zollino, G.; Zuin, M.

IEEE Transactions on Plasma Science IEEE Trans. Plasma Sci. Plasma Science, IEEE Transactions on. 48(6):1708-1714 Jun, 2020

Amenta S.; Marangi G.; Orteschi D.; Frangella S.; Gurrieri F.; Paccagnella E.; Torella A.; Cappuccio G.; Musacchia F.; Mutarelli M.; Carrella D.; Vitiello G.; Parenti G.; Leuzzi V.; Selicorni A.; Maitz S.; Brunetti-Pierri N.; Banfi S.; Montomoli M.; Milani D.; Romano C.; Tummolo A.; De Brasi D.; Coppola A.; Santoro C.; Scala M.; Romano F.; Capra V.; Nigro V.; Zollino M.

European Journal of Human Genetics

Sara Saez-Atienzar; Cleide dos Santos Souza; Ruth Chia; Selina N. Beal; Ileana Lorenzini; Ruili Huang; Jennifer Levy; Camelia Burciu; Jinhui Ding; J. Raphael Gibbs; Ashley Jones; Ramita Dewan; Viviana Pensato; Silvia Peverelli; Lucia Corrado; Joke J.F.A. van Vugt; Wouter van Rheenen; Ceren Tunca; Elif Bayraktar; Menghang Xia; Alfredo Iacoangeli; Aleksey Shatunov; Cinzia Tiloca; Nicola Ticozzi; Federico Verde; Letizia Mazzini; Kevin Kenna; Ahmad Al Khleifat; Sarah Opie-Martin; Flavia Raggi; Massimiliano Filosto; Stefano Cotti Piccinelli; Alessandro Padovani; Stella Gagliardi; Maurizio Inghilleri; Alessandra Ferlini; Rosario Vasta; Andrea Calvo; Cristina Moglia; Antonio Canosa; Umberto Manera; Maurizio Grassano; Jessica Mandrioli; Gabriele Mora; Christian Lunetta; Raffaella Tanel; Francesca Trojsi; Patrizio Cardinali; Salvatore Gallone; Maura Brunetti; Daniela Galimberti; Maria Serpente; Chiara Fenoglio; Elio Scarpini; Giacomo P. Comi; Stefania Corti; Roberto Del Bo; Mauro Ceroni; Giuseppe Lauria Pinter; Franco Taroni; Eleonora Dalla Bella; Enrica Bersano; Charles J. Curtis; Sang Hyuck Lee; Raymond Chung; Hamel Patel; Karen E. Morrison; Johnathan Cooper-Knock; Pamela J. Shaw; Gerome Breen; Richard J.B. Dobson; Clifton L. Dalgard; Sonja W. Scholz; Ammar Al-Chalabi; Leonard H. van den Berg; Russell McLaughlin; Orla Hardiman; Cristina Cereda; Gianni Sorarù; Sandra D’Alfonso; Siddharthan Chandran; Suvankar Pal; Antonia Ratti; Cinzia Gellera; Kory Johnson; Tara Doucet-O’Hare; Nicholas Pasternack; Tongguang Wang; Avindra Nath; Gabriele Siciliano; Vincenzo Silani; Ayşe Nazlı Başak; Jan H. Veldink; William Camu; Jonathan D. Glass; John E. Landers; Adriano Chiò; Rita Sattler; Christopher E. Shaw; Laura Ferraiuolo; Isabella Fogh; Bryan J. Traynor; Robert H. Baloh; Robert Bowser; Christopher B. Brady; Alexis Brice; James Broach; Adriano Chio; John Cooper-Knock; Daniele Cusi; Carsten Drepper; Vivian E. Drory; Travis L. Dunckley; Eva Feldman; Mary Kay Floeter; Pietro Fratta; Glenn Gerhard; Summer B. Gibson; Stephen A. Goutman; John Hardy; Matthew B. Harms; Terry D. Heiman-Patterson; Lilja Jansson; Janine Kirby; Hannu Laaksovirta; Francesco Landi; Isabelle Le Ber; Serge Lumbroso; Claire Guissart; Daniel JL. MacGowan; Nicholas J. Maragakis; Kevin Mouzat; Liisa Myllykangas; Richard W. Orrell; Lyle W. Ostrow; Stuart Pickering-Brown; Erik P. Pioro; Stefan M. Pulst; John M. Ravits; Alan E. Renton; Wim Robberecht; Ekaterina Rogaeva; Jeffrey D. Rothstein; Erika Salvi; Michael Sendtner; Katie C. Sidle; Zachary Simmons; David J. Stone; Pentti J. Tienari; John Q. Trojanowski; Juan C. Troncoso; Miko Valori; Philip Van Damme; Vivianna M. Van Deerlin; Ludo Van Den Bosch; Lorne Zinman; Stefania M. Angelocola; Francesco P. Ausiello; Marco Barberis; Ilaria Bartolomei; Stefania Battistini; Giulia Bisogni; Giuseppe Borghero; Corrado Cabona; Fabrizio Canale; Teresa A. Cantisani; Margherita Capasso; Claudia Caponnetto; Paola Carrera; Federico Casale; Tiziana Colletti; Francesca L. Conforti; Amelia Conte; Elisa Conti; Massimo Corbo; Stefania Cuccu; Eustachio D'Errico; Giovanni DeMarco; Raffaele Dubbioso; Carlo Ferrarese; Pilar M. Ferraro; Massimo Filippi; Nicola Fini; Gianluca Floris; Giuseppe Fuda; Giulia Gianferrari; Fabio Giannini; Lucia Greco; Barbara Iazzolino; Alessandro Introna; Vincenzo La Bella; Serena Lattante; Giuseppe Lauria; Rocco Liguori; Giancarlo Logroscino; Francesco O. Logullo; Paola Mandich; Fiore Manganelli; Giuseppe Marangi; Kalliopi Marinou; Maria Giovanna Marrosu; Ilaria Martinelli; Sonia Messina; Maria Rosaria Monsurrò; Lorena Mosca; Maria R. Murru; Paola Origone; Carla Passaniti; Cristina Petrelli; Antonio Petrucci; Angelo Pirisi; Susanna Pozzi; Maura Pugliatti; Angelo Quattrini; Claudia Ricci; Giulia Riolo; Nilo Riva; Massimo Russo; Mario Sabatelli; Paolina Salamone; Marco Salivetto; Fabrizio Salvi; Marialuisa Santarelli; Luca Sbaiz; Riccardo Sideri; Isabella Simone; Cecilia Simonini; Rossella Spataro; Gioacchino Tedeschi; Anna Ticca; Antonella Torriello; Stefania Tranquilli; Lucio Tremolizzo; Veria Vacchiano; Giuseppe Vita; Paolo Volanti; Marcella Zollino; Elisabetta Zucchi; Barbara Castellotti; Costanza Simoncini; Annalisa Lo Gerfo; Philippe Corcia; Philippe Couratier; Patrick Vourc'h; Marc Gotkine; Vivian Drory; Jan H. van den Veldink; Leonard H. Berg; Mamede de Carvalho; Jesus S. Mora Pardina; Monica Povedano; Peter Andersen; Markus Weber; Chris Shaw; Adelani Adeleye; Camille Alba; Dagmar Bacikova; Daniel N. Hupalo; Elisa McGrath Martinez; Anthony R. Soltis; Gauthaman Sukumar; Coralie Viollet; Matthew D. Wilkerson

Cell Genomics, Vol 4, Iss 11, Pp 100679- (2024)

Giacomini T.; Scala M.; Nobile G.; Severino M.; Tortora D.; Nobili L.; Accogli A.; Torella A.; Capra V.; Mancardi M. M.; Nigro V.; Cappuccio G.; Musacchia F.; Mutarelli M.; Carrella D.; Vitiello G.; Parenti G.; Leuzzi V.; Selicorni A.; Maitz S.; Pierri N. B.; Banfi S.; Zollino M.; Montomoli M.; Milani D.; Romano C.; Tummolo A.; De Brasi D.; Coppola A.; Santoro C.

Brain and Development. 44:480-485

Mulder, P.A.; Balkom, I.D.C. van; Landlust, A.M.; Priolo, M.; Menke, L.A.; Acero, I.H.; Alkuraya, F.S.; Arias, P.; Bernardini, L.; Bijlsma, E.K.; Cole, T.; Coubes, C.; Dapia, I.; Davies, S.; Donato, N. di; Elcioglu, N.H.; Fahrner, J.A.; Foster, A.; Gonzalez, N.G.; Huber, I.; Iascone, M.; Kaiser, A.S.; Kamath, A.; Kooblall, K.; Lapunzina, P.; Liebelt, J.; Lynch, S.A.; Maas, S.M.; Mammi, C.; Mathijssen, I.B.; McKee, S.; Mirzaa, G.M.; Montgomery, T.; Neubauer, D.; Neumann, T.E.; Pintomalli, L.; Pisanti, M.A.; Plomp, A.S.; Price, S.; Salter, C.; Santos-Simarro, F.; Sarda, P.; Schanze, D.; Segovia, M.; Shaw-Smith, C.; Smithson, S.; Suri, M.; Tatton-Brown, K.; Tenorio, J.; Thakker, R.V.; Valdez, R.M.; Haeringen, A. van; Hagen, J.M. van; Zenker, M.; Zollino, M.; Dunn, W.W.; Piening, S.; Hennekam, R.C.

Mulder, P A, van Balkom, I D C, Landlust, A M, Priolo, M, Menke, L A, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Kooblall, K, Lapunzina, P, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, R V, Valdez, R M, van Haeringen, A, van Hagen, J M, Zenker, M, Zollino, M, Dunn, W W, Piening, S & Hennekam, R C 2020, 'Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes', Journal of Intellectual Disability Research, vol. 64, no. 12, pp. 956-969. https://doi.org/10.1111/jir.12787

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

Sarli, C.; van der Laan, L.; Reilly, J.; Trajkova, S.; Carli, D.; Brusco, A.; Levy, M.A.; Relator, R.; Kerkhof, J.; McConkey, H.; Tedder, M.L.; Skinner, C.; Alders, M.; Henneman, P.; Hennekam, R.C.M.; Ciaccio, C.; D'Arrigo, S.; Vitobello, A.; Faivre, L.; Weber, S.; Vincent-Devulder, A.; Perrin, L.; Bourgois, A.; Yamamoto, T.; Metcalfe, K.; Zollino, M.; Kini, U.; Oliveira, D.; Sousa, S.B.; Williams, D.; Cappuccio, G.; Sadikovic, B.; Brunetti-Pierri, N.

Am. J. Med. Genet. Part C Semin. Med. Genet.. 196(4)

Chacon-Millan P; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Delicato A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Mahmood A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiStaBiF), University of Campania 'Luigi Vanvitelli,' Caserta, Italy.; Tirozzi A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Medical Genetics Unit, Department of General and Emergency Pediatrics, AORN Santobono-Pausilipon, Naples, Italy.; Monfregola J; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Duroure K; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Serafini M; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Kroll F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; El-Hage O; Université Paris-Saclay, Hôpital Kremlin Bicêtre, U1195, Inserm, 94276 Le Kremlin Bicêtre, France.; Salah S; Palestine Red Crescent Society Hospital, Hebron, Palestine.; Atawneh OM; Palestine Red Crescent Society Hospital, Hebron, Palestine.; Atik T; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.; Durmusalioglu EA; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.; Isik E; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.; Almontashiri NAM; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Al Madinah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Tabarki B; Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia.; Kanaan M; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.; Rabie G; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Spampanato C; University Hospital 'Luigi Vanvitelli,' Naples, Italy.; Battaglia DI; Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.; Begemann A; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Steindl K; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Rauch A; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Zweier M; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Hajianpour M; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Med Health System, Albany Medical College, Albany, NY 12208, USA.; Brigatti KW; Clinic for Special Children, Gordonville, PA 17529, USA.; Alhashem A; Department of Genetic and Metabolic, King Fahad Specialist Hospital, Dammam, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Department of Genetic, Seha Virtual Hospital, Riyadh, Saudi Arabia.; Maroofian R; University College London, Institute of Neurology Queen Square, London, UK.; Feigerlova E; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, Filière G2M, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France.; Lambert L; Department of Clinical Genetics, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France.; Feillet F; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, Filière G2M, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France.; Abbott MA; Baystate Medical Center, Springfield, MA, USA.; D'Alessio AM; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Translational Medicine, University of Naples 'Federico II,' Naples, Italy.; Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro 76230, Mexico.; Tawk M; Université Paris-Saclay, Hôpital Kremlin Bicêtre, U1195, Inserm, 94276 Le Kremlin Bicêtre, France.; De Matteis MA; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy.; Del Bene F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Zollino M; Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Venditti R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy.; Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Translational Medicine, University of Naples 'Federico II,' Naples, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, Naples, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy. Electronic address: morleo@tigem.it.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

L'Erario FF; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Gazzellone A; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Contaldo I; Child Neurology and Psychiatry Unit, Department of Neuroscience, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Veredice C; Child Neurology and Psychiatry Unit, Department of Neuroscience, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Carapelle M; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Renzi AG; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Modafferi C; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Palucci M; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; D'Ambrosio P; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Sonnini E; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Loberti L; Medical Genetics, University of Siena, 53100 Siena, Italy.; Panfili A; Scientific Directorate, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy.; Lucci Cordisco E; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Chiurazzi P; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Trevisan V; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Pomponi MG; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Orteschi D; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Zollino M; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Marangi G; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Verrecchia, F.; Tavani, M.; Donnarumma, I.; Bulgarelli, A.; Evangelista, Y.; Pacciani, L.; Ursi, A.; Piano, G.; Pilia, M.; Cardillo, M.; Parmiggiani, N.; Giuliani, A.; Pittori, C.; Longo, F.; Lucarelli, F.; Minervini, G.; Feroci, M.; Argan, A.; Fuschino, F.; Labanti, C.; Marisaldi, M.; Fioretti, V.; Trois, A.; Del Monte, E.; Antonelli, L. A.; Barbiellini, G.; Caraveo, P.; Cattaneo, P. W.; Colafrancesco, S.; Costa, E.; D'Amico, F.; Ferrari, A.; Giommi, P.; Morselli, A.; Paoletti, F.; Pellizzoni, A.; Picozza, P.; Rappoldi, A.; Soffitta, P.; Vercellone, S.; Baroncelli, L.; Zollino, G.

Bandres-Ciga S.; Noyce A. J.; Hemani G.; Nicolas A.; Calvo A.; Mora G.; Arosio A.; Barberis M.; Bartolomei I.; Battistini S.; Benigni M.; Borghero G.; Brunetti M.; Cammarosano S.; Cannas A.; Canosa A.; Capasso M.; Caponnetto C.; Caredda C.; Carrera P.; Casale F.; Cavallaro S.; Chio A.; Colletti T.; Conforti F. L.; Conte A.; Corrado L.; Costantino E.; D'Alfonso S.; Fasano A.; Femiano C.; Ferrarese C.; Fini N.; Floris G.; Fuda G.; Giannini F.; Grassano M.; Ilardi A.; La Bella V.; Lattante S.; Logroscino G.; Logullo F. O.; Loi D.; Lunetta C.; Mancardi G.; Mandich P.; Mandrioli J.; Manera U.; Marangi G.; Marinou K.; Marrali G.; Marrosu M. G.; Mazzini L.; Melis M.; Messina S.; Moglia C.; Monsurro M. R.; Mosca L.; Occhineri P.; Origone P.; Pani C.; Penco S.; Petrucci A.; Piccirillo G.; Pirisi A.; Pisano F.; Pugliatti M.; Restagno G.; Ricci C.; Rita Murru M.; Riva N.; Sabatelli M.; Salvi F.; Santarelli M.; Sideri R.; De Simone, Idor; Spataro R.; Tanel R.; Tedeschi G.; Tranquilli S.; Tremolizzo L.; Trojsi F.; Volanti P.; Zollino M.; Abramzon Y.; Arepalli S.; Baloh R. H.; Bowser R.; Brady C. B.; Brice A.; Broach J.; Campbell R. H.; Camu W.; Chia R.; Cooper-Knock J.; Cusi D.; Ding J.; Drepper C.; Drory V. E.; Dunckley T. L.; Eicher J. D.; Faghri F.; Feldman E.; Kay Floeter M.; Fratta P.; Geiger J. T.; Gerhard G.; Gibbs J. R.; Gibson S. B.; Glass J. D.; Hardy J.; Harms M. B.; Heiman-Patterson T. D.; Hernandez D. G.; Jansson L.; Kamel F.; Kirby J.; Kowall N. W.; Laaksovirta H.; Landi F.; Le Ber I.; Lumbroso S.; MacGowan D. J. L.; Maragakis N. J.; Mouzat K.; Murphy N. A.; Myllykangas L.; Nalls M. A.; Orrell R. W.; Ostrow L. W.; Pamphlett R.; Pickering-Brown S.; Pioro E.; Pliner H. A.; Pulst S. M.; Ravits J. M.; Renton A. E.; Rivera A.; Robbrecht W.; Rogaeva E.; Rollinson S.; Rothstein J. D.; Salvi E.; Scholz S. W.; Sendtner M.; Shaw P. J.; Sidle K. C.; Simmons Z.; Singleton A. B.; Stone D. C.; Sulkava R.; Tienari P. J.; Traynor B. J.; Trojanowski J. Q.; Troncoso J. C.; Van Damme P.; Van Deerlin V. M.; Van Den Bosch L.; Zinman L.; Stone D. J.

Ann Neurol
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
instname
Annals of neurology 85 (2019): 470–481. doi:10.1002/ana.25431
info:cnr-pdr/source/autori:Bandres-Ciga S; Noyce AJ; Hemani G; Nicolas A; Calvo A; Mora G; Arosio A; Barberis M; Bartolomei I; Battistini S; Benigni M; Borghero G; Brunetti M; Cammarosano S; Cannas A; Canosa A; Capasso M; Caponnetto C; Caredda C; Carrera P; Casale F; Cavallaro S; Chiò A; Colletti T; Conforti FL; Conte A; Corrado L; Costantino E; D'Alfonso S; Fasano A; Femiano C; Ferrarese C; Fini N; Floris G; Fuda G; Giannini F; Grassano M; Ilardi A; La Bella V; Lattante S; Logroscino G; Logullo FO; Loi D; Lunetta C; Mancardi G; Mandich P; Mandrioli J; Manera U; Marangi G; Marinou K; Marrali G; Marrosu MG; Mazzini L; Melis M; Messina S; Moglia C; Monsurro MR; Mosca L; Occhineri P; Origone P; Pani C; Penco S; Petrucci A; Piccirillo G; Pirisi A; Pisano F; Pugliatti M; Restagno G; Ricci C; Rita Murru M; Riva N; Sabatelli M; Salvi F; Santarelli M; Sideri R; Simone I; Spataro R; Tanel R; Tedeschi G; Tranquilli S; Tremolizzo L; Trojsi F; Volanti P; Zollino M; Abramzon Y; Arepalli S; Baloh RH; Bowser R; Brady CB; Brice A; Broach J; Campbell RH; Camu W; Chia R; Cooper-Knock J; Cusi D; Ding J; Drepper C; Drory VE; Dunckley TL; Eicher JD; Faghri F; Feldman E; Kay Floeter M; Fratta P; Geiger JT; Gerhard G; Gibbs JR; Gibson SB; Glass JD; Hardy J; Harms MB; Heiman-Patterson TD; Hernandez DG; Jansson L; Kamel F; Kirby J; Kowall NW; Laaksovirta H; Landi F; Le Ber I; Lumbroso S; MacGowan DJL; Maragakis NJ; Mouzat K; Murphy NA; Myllykangas L; Nalls MA; Orrell RW; Ostrow LW; Pamphlett R; Pickering-Brown S; Pioro E; Pliner HA; Pulst SM; Ravits JM; Renton AE; Rivera A; Robbrecht W; Rogaeva E; Rollinson S; Rothstein JD; Salvi E; Scholz SW; Sendtner M; Shaw PJ; Sidle KC; Simmons Z; Singleton AB; Stone DC; Sulkava R; Tienari PJ; Traynor BJ; Trojanowski JQ; Troncoso JC; Van Damme P; Van Deerlin VM; Van Den Bosch L; Zinman L; Stone DJ;/titolo:Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis/doi:10.1002%2Fana.25431/rivista:Annals of neurology/anno:2019/pagina_da:470/pagina_a:481/intervallo_pagine:470–481/volume:85
2019, 'Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis', Annals of Neurology, vol. 85, no. 4, pp. 470-481. https://doi.org/10.1002/ana.25431

Doronzio P. N.; Lattante S.; Marangi G.; Martello F.; Conte A.; Bisogni G.; Bernardo D.; Patanella A. K.; Meleo E.; Zollino M.; Sabatelli M.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 24:152-154

Richard E. M.; Bakhtiari S.; Marsh A. P. L.; Kaiyrzhanov R.; Wagner M.; Shetty S.; Pagnozzi A.; Nordlie S. M.; Guida B. S.; Cornejo P.; Magee H.; Liu J.; Norton B. Y.; Webster R. I.; Worgan L.; Hakonarson H.; Li J.; Guo Y.; Jain M.; Blesson A.; Rodan L. H.; Abbott M. -A.; Comi A.; Cohen J. S.; Alhaddad B.; Meitinger T.; Lenz D.; Ziegler A.; Kotzaeridou U.; Brunet T.; Chassevent A.; Smith-Hicks C.; Ekstein J.; Weiden T.; Hahn A.; Zharkinbekova N.; Turnpenny P.; Tucci A.; Yelton M.; Horvath R.; Gungor S.; Hiz S.; Oktay Y.; Lochmuller H.; Zollino M.; Morleo M.; Marangi G.; Nigro V.; Torella A.; Pinelli M.; Amenta S.; Husain R. A.; Grossmann B.; Rapp M.; Steen C.; Marquardt I.; Grimmel M.; Grasshoff U.; Korenke G. C.; Owczarek-Lipska M.; Neidhardt J.; Radio F. C.; Mancini C.; Claps Sepulveda D. J.; McWalter K.; Begtrup A.; Crunk A.; Guillen Sacoto M. J.; Person R.; Schnur R. E.; Mancardi M. M.; Kreuder F.; Striano P.; Zara F.; Chung W. K.; Marks W. A.; van Eyk C. L.; Webber D. L.; Corbett M. A.; Harper K.; Berry J. G.; MacLennan A. H.; Gecz J.; Tartaglia M.; Salpietro V.; Christodoulou J.; Kaslin J.; Padilla-Lopez S.; Bilguvar K.; Munchau A.; Ahmed Z. M.; Hufnagel R. B.; Fahey M. C.; Maroofian R.; Houlden H.; Sticht H.; Mane S. M.; Rad A.; Vona B.; Jin S. C.; Haack T. B.; Makowski C.; Hirsch Y.; Riazuddin S.; Kruer M. C.

Am. J. Hum. Genet. 108, 2006-2016 (2021)

Bisogni G; Centro Clinico NeMO Adulti, Fondazione Serena Onlus-Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Conte A; Centro Clinico NeMO Adulti, Fondazione Serena Onlus-Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Costantino U; Neurology Unit, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.; Lattante S; Department of Experimental Medicine, Università del Salento, 73100 Lecce, Italy.; Bernardo D; Centro Clinico NeMO Adulti, Fondazione Serena Onlus-Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Lucioli G; Centro Clinico NeMO Adulti, Fondazione Serena Onlus-Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Patanella AK; Centro Clinico NeMO Adulti, Fondazione Serena Onlus-Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Cimbolli P; Centro Clinico NeMO Adulti, Fondazione Serena Onlus-Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Del Giudice E; Research & Innovation (R&I Genetics) Srl, 35127 Padova, Italy.; Vettor F; Research & Innovation (R&I Genetics) Srl, 35127 Padova, Italy.; Marangi G; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Unit of Medical Genetics, Department of Laboratory and Infectious Disease Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Doronzio PN; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Unit of Medical Genetics, Department of Laboratory and Infectious Disease Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Zollino M; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Unit of Medical Genetics, Department of Laboratory and Infectious Disease Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Sabatelli M; Centro Clinico NeMO Adulti, Fondazione Serena Onlus-Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Institute of Neurology, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Cappuccio G.; Sayou C.; Tanno P. L.; Tisserant E.; Bruel A. -L.; Kennani S. E.; Sa J.; Low K. J.; Dias C.; Havlovicova M.; Hancarova M.; Eichler E. E.; Devillard F.; Moutton S.; Van-Gils J.; Dubourg C.; Odent S.; Gerard B.; Piton A.; Yamamoto T.; Okamoto N.; Firth H.; Metcalfe K.; Moh A.; Chapman K. A.; Aref-Eshghi E.; Kerkhof J.; Torella A.; Nigro V.; Perrin L.; Piard J.; Le Guyader G.; Jouan T.; Thauvin-Robinet C.; Duffourd Y.; George-Abraham J. K.; Buchanan C. A.; Williams D.; Kini U.; Wilson K.; Brunetti-Pierri N.; Casari G.; Pinelli M.; Musacchia F.; Mutarelli M.; Carrella D.; Vitiello G.; Capra V.; Parenti G.; Leuzzi V.; Selicorni A.; Maitz S.; Banfi S.; Zollino M.; Montomoli M.; Milani D.; Romano C.; Tummolo A.; De Brasi D.; Coppola A.; Santoro C.; Peron A.; Pantaleoni C.; Castello R.; D'Arrigo S.; Sousa S. B.; Hennekam R. C. M.; Sadikovic B.; Thevenon J.; Govin J.; Vitobello A.

Genetics in Medicine. 22:1838-1850

Marina Macchiaiolo; Filippo M. Panfili; Davide Vecchio; Michaela V. Gonfiantini; Fabiana Cortellessa; Cristina Caciolo; Marcella Zollino; Maria Accadia; Marco Seri; Marcello Chinali; Corrado Mammì; Marco Tartaglia; Andrea Bartuli; Paolo Alfieri; Manuela Priolo

Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)

Olsen RKJ; Konarikova E; Giancaspero TA; Mosegaard S; Boczonadi V; Matakovic L; Veauville Merllie A; Terrile C; Schwarzmayr T; Haack TB; Auranen M; Leone P; GALLUCCIO, Michele; Imbard A; Gutierrez Rios P; Palmfeldt J; Graf E; Vianey Saban C; Oppenheim M; Schiff M; Pichard S; Rigal O; Pyle A; Chinnery PF; Konstantopoulou V; Moslinger D; Feichtinger RG; Talim B; Topaloglu H; Coskun T; Gucer S; Botta A; Pegoraro E; Malena A; Vergani L; Mazza D; Zollino M; Ghezzi D; Acquaviva C; Tyni T; Boneh A; Meitinger T; Strom TM; Gregersen N; Mayr JA; Horvath R; Barile M; Prokisch H.

Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname
Am. J. Hum. Genet. 98, 1130-1145 (2016)
Olsen, R K J, Koňaříková, E, Giancaspero, T A, Mosegaard, S, Boczonadi, V, Mataković, L, Veauville-Merllié, A, Terrile, C, Schwarzmayr, T, Haack, T B, Auranen, M, Leone, P, Galluccio, M, Imbard, A, Gutierrez-Rios, P, Palmfeldt, J, Graf, E, Vianey-Saban, C, Oppenheim, M, Schiff, M, Pichard, S, Rigal, O, Pyle, A, Chinnery, P F, Konstantopoulou, V, Möslinger, D, Feichtinger, R G, Talim, B, Topaloglu, H, Coskun, T, Gucer, S, Botta, A, Pegoraro, E, Malena, A, Vergani, L, Mazzà, D, Zollino, M, Ghezzi, D, Acquaviva, C, Tyni, T, Boneh, A, Meitinger, T, Strom, T M, Gregersen, N, Mayr, J A, Horvath, R, Barile, M & Prokisch, H 2016, 'Riboflavin-Responsive and-Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency', American Journal of Human Genetics, vol. 98, no. 6, pp. 1130-45. https://doi.org/10.1016/j.ajhg.2016.04.006
American Journal of Human Genetics