부산대학교 도서관

Diodato, D.; Bosco, L.; Catteruccia, M.; Sancesario, A.; Jofrè, J.; Suarez, B.; Lacaux, P.; Tosi, M.; De Luca, G.; Mizzoni, I.; Pro, S.; Bellacchio, E.; Fattori, F.; Novelli, A.; Bertini, E.; Castiglioni, C.; D'Amico, A.

European Journal of Paediatric Neurology. 61:24-35

Piemonte F.; Petrillo S.; Capasso A.; Coratti G.; D'Amico A.; Catteruccia M.; Pera M. C.; Palermo C.; Pane M.; Abiusi E.; Cicala G.; Villa M.; Bravetti C.; Arpaia C.; Novelli A.; Falqui S.; Fiori S.; Napoli G.; Baroni S.; Tiziano F. D.; Bertini E.; Comi G.; Corti S.; Mercuri E.

Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 12, Iss 7, Pp 1368-1377 (2025)

Albamonte E.; Lizio A.; Coratti G.; Maggi L.; Pegoraro E.; Pane M.; Messina S.; Masson R.; D'Amico A.; Bertini E.; Pini A.; Ricci F.; Mongini T.; Bruno C.; Patanella K.; Sframeli M.; Dosi C.; Bonanno S.; Scarpini G.; Brolatti N.; Zanolini A.; Bravetti C.; Pera M. C.; Mercuri E. M.; Sansone V. A.; ItaSMAc; Zuccarino R.; Zanin R.; Pedemonte M.; Salmin F.; Zambon A.; Previtali S.; Ricci G.; Benedetti F.; Agosto C.; Capece G.; Bitetti I.; Picillo E.; Berardinelli A.; Comi G.; Catteruccia M.; Ticci C.; Sacchini M.; Nigro L.; Magnolato A.; Bruno I.; Briganti E.; Vecchiano V.; Minacapilli E.; Maria U.; Ferrero A.

Neurological Sciences. 46:3839-3849

Andrea L. Smidler; Eryney A. Marrogi; Sean Scott; Enzo Mameli; Daniel Abernathy; Omar S. Akbari; George M. Church; Flaminia Catteruccia; Kevin Esvelt

Scientific Reports, Vol 15, Iss 1, Pp 1-12 (2025)

Kato, Nobutaka; Comer, Eamon; Sakata-Kato, Tomoyo; Sharma, Arvind; Sharma, Manmohan; Maetani, Micah; Bastien, Jessica; Brancucci, Nicolas M.; Bittker, Joshua A.; Corey, Victoria; Clarke, David; Derbyshire, Emily R.; Dornan, Gillian L.; Duffy, Sandra; Eckley, Sean; Itoe, Maurice A.; Koolen, Karin M. J.; Lewis, Timothy A.; Lui, Ping S.; Lukens, Amanda K.; Lund, Emily; March, Sandra; Meibalan, Elamaran; Meier, Bennett C.; McPhail, Jacob A.; Mitasev, Branko; Moss, Eli L.; Sayes, Morgane; Van Gessel, Yvonne; Wawer, Mathias J.; Yoshinaga, Takashi; Zeeman, Anne-Marie; Avery, Vicky M.; Bhatia, Sangeeta N.; Burke, John E.; Catteruccia, Flaminia; Clardy, Jon C.; Clemons, Paul A.; Dechering, Koen J.; Duvall, Jeremy R.; Foley, Michael A.; Gusovsky, Fabian; Kocken, Clemens H. M.; Marti, Matthias; Morningstar, Marshall L.; Munoz, Benito; Neafsey, Daniel E.; Sharma, Amit; Winzeler, Elizabeth A.; Wirth, Dyann F.; Scherer, Christina A.; Schreiber, Stuart L.

Nature: International weekly journal of science. 648(8094):E12-E13

Trucco F.; Albamonte E.; Pane M.; Ricci F.; D'amico A.; Astrea G.; Moroni I.; Pini A.; Fiorillo C.; Berardinelli A.; Johnson N. E.; Sansone V. A.; Lizio A.; di Bari A.; Salmin F.; Beretta M.; Casiraghi J.; Pozzi S.; Antonaci L.; Salvalaggio A.; Catteruccia M.; Tosi M.; Marinella G.; Danti F. R.; Bruschi F.; Scarpini G.; Veneruso M.; Parravicini S.; Ferrero A.; Risi B.; Barp A.; Zuccarino R.; Filosto M.; Coccia M.; Battini R.; Mercuri E.; Berggren K.

Dev Med Child Neurol

Bravetti C.; Coratti G.; Pera M. C.; Gadaleta G.; Mongini T.; Coccia M.; Ferrero A.; Costantini E. M.; Longo A.; Cumbo F.; Catteruccia M.; D'Amico A.; Morando S.; Brolatti N.; Bruno C.; Verriello L.; Pessa M. E.; Antonaci L.; Faini C.; Liguori R.; Vacchiano V.; Ruggiero L.; Zoppi D.; Russo A.; Torri F.; Ricci G.; Chiappini R.; Siciliano G.; Trabacca A.; Agosto C.; Benedetti F.; Pane M.; Mercuri E.; Carlesi A.; Mizzoni I.; De Luca G.; De Maria M.; Mannucci S.; Dainesi I.; Malaspina M.; Marsella G.; Bianchetti M.; Esposito L.; Petracca G.; Giammartino F.; Ascione F.; Rolleri E.; De Rosa E.; De Gioia A.; Porto C.; Moro M.; Rausa A.; Falco A.; Polo A.; Sestito S.; Villa M.; Cutri C.; Paolucci S.; Cicala G.; Arpaia C.; Capasso A.

Eur J Pediatr

Coratti G.; Bovis F.; Pera M. C.; Civitello M.; Rohwer A.; Salmin F.; Glanzman A. M.; Montes J.; Pasternak A.; DeSanctis R.; DunawayYoung S.; Duong T.; Mizzoni I.; Milev E.; Sframeli M.; Morando S.; Albamonte E.; D'Amico A.; Catteruccia M.; Brolatti N.; Pane M.; Scoto M.; Messina S.; Escudero J. E.; DeWaele L.; Hirano M.; Zolkipli-Cunningham Z.; Darras B. T.; Bertini E.; NascimientoOsorio A.; Bruno C.; Goemans N.; Sansone V. A.; Day J.; Baranello G.; Muntoni F.; Finkel R.; Mercuri E.; Cavallina I.; Rolle E.; Ricci F.; Mongini T.; Masson R.; Zanin R.; Arnoldi M. T.; Pini A.; Trabacca A.; Rodriguez-Torres R. S.; Forcina N.; Norcia G.; Stanca G.; Carnicella S.; Fanelli L.; Main M.; Bravetti C.; Longo A.; Nani M.; Antonaci L.; Materia R.

Eur J Neurol

Coratti G.; Pane M.; Brogna C.; D'Amico A.; Pegoraro E.; Bello L.; Sansone V. A.; Albamonte E.; Ferraroli E.; Mazzone E. S.; Fanelli L.; Messina S.; Sframeli M.; Catteruccia M.; Cicala G.; Capasso A.; Ricci M.; Frosini S.; De Luca G.; Rolle E.; De Sanctis R.; Forcina N.; Norcia G.; Passamano L.; Scutifero M.; Gardani A.; Pini A.; Monaco G.; D'Angelo M. G.; Leone D.; Zanin R.; Vita G. L.; Panicucci C.; Bruno C.; Mongini T.; Ricci F.; Berardinelli A.; Battini R.; Masson R.; Baranello G.; Dosi C.; Bertini E.; Nigro V.; Politano L.; Mercuri E.

Neuromuscular Disorders. 34:75-82

Tosi M; Unit of Muscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital.; Catteruccia M; Unit of Muscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital.; Cantarutti N; Pediatric Cardiology and Cardiac Arrhythmia/Syncope Unit, IRCCS Bambino Gesù Children's Hospital.; Perrotta D; Department of Anesthesia and Critical Care, IRCCS Bambino Gesù Children's Hospital.; D'Amico A; Unit of Muscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital.

Publisher: Gaetano Conte Academy Country of Publication: Italy NLM ID: 9811169 Publication Model: Print Cited Medium: Internet ISSN: 2532-1900 (Electronic) Linking ISSN: 11282460 NLM ISO Abbreviation: Acta Myol Subsets: MEDLINE

Pane M; Centro Clinico NeMO, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy and Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Capasso A; Centro Clinico NeMO, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy and Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Arpaia C; Centro Clinico NeMO, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy and Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Venditti R; Centro Clinico NeMO, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy and Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Albamonte E; The NeMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.; D'Alessandro R; Child Neuropsychiatry Unit, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.; Ricci F; Child Neuropsychiatry Unit, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.; D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Catteruccia M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Tosi M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Trucco F; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Masson R; Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy.; Dosi C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy.; Parravicini S; Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy.; Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Bello L; Dipartimento di Neuroscienze, DNS, Università degli Studi di Padova, Padova, Italy.; D'Angelo MG; NeuroMuscular Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini (Lecco), Italy.; Magri F; Neurology Unit, Fondazione IRCCS Ca› Granda Ospedale Maggiore Policlinico, Milan, Italy; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Nigro V; Medical Genetics and Cardiomyology, University of Campania 'Luigi Vanvitelli' and TIGEM, Napoli, Italy.; Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.; Comi G; Neurology Unit, Fondazione IRCCS Ca› Granda Ospedale Maggiore Policlinico, Milan, Italy; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Sansone VA; The NeMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.; Crotti L; Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy; IRCCS, Istituto Auxologico Italiano, Department of Cardiology, Cardiomyopathy Unit, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy.; Mercuri E; Centro Clinico NeMO, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy and Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

Publisher: Gaetano Conte Academy Country of Publication: Italy NLM ID: 9811169 Publication Model: Print Cited Medium: Internet ISSN: 2532-1900 (Electronic) Linking ISSN: 11282460 NLM ISO Abbreviation: Acta Myol Subsets: MEDLINE; In Process

Coratti G; Pediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Bovis F; Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.; Pane M; Pediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Pasternak A; Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.; Mizzoni I; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Glanzman AM; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Morando S; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.; Montes J; Columbia University Irving Medical Center, New York, New York, USA.; Cavallina I; Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.; Dunaway Young S; Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA.; Duong T; Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA.; Rolle E; Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.; Civitello M; Center for Experimental Neurotherapeutics, Department of Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; De Sanctis R; Pediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Bravetti C; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Ricci F; Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.; Gadaleta G; Neuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Mongini T; Neuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Pera MC; Pediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Department of Medicine and Surgery, Child Neuropsychiatry Unit, University of Parma, Parma, Italy.; Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Brolatti N; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.; Hirano M; Columbia University Irving Medical Center, New York, New York, USA.; Zolkipli-Cunningham Z; Division of Human Genetics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Darras BT; Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Bruno C; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.; Day J; Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA.; Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.; Finkel RS; Center for Experimental Neurotherapeutics, Department of Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Mercuri E; Pediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Smidler, Andrea L.; Marrogi, Eryney; Kauffman, Jamie; Paton, Douglas G.; Westervelt, Kathleen A.; Church, George M.; Esvelt, Kevin M.; Shaw, W. Robert; Catteruccia, Flaminia

Scientific Reports. 14(1)

Coratti, G.; Pane, M.; Stanca, G.; D'Amico, A.; Sansone, V.; Berti, B.; Fanelli, L.; Albamonte, E.; Ausili, C.; Cerchiari, A.; Catteruccia, M.; De Sanctis, R.; Leone, D.; Palermo, C.; Buchignani, B.; Tosi, M.; Pera, M.; Bertini, E.; Mercuri, E.

Neuromuscular Disorders. 43

Helman, G.; Mendes, M. I.; Nicita, F.; Darbelli, L.; Sherbini, O.; Moore, T.; Derksen, A.; Amy, Pizzino; Carrozzo, R.; Torraco, A.; Catteruccia, M.; Aiello, C.; Goffrini, P.; Figuccia, S.; Smith, D. E. C.; Hadzsiev, K.; Hahn, A.; Biskup, S.; Brösse, I.; Kotzaeridou, U.; Gauck, D.; Grebe, T. A.; Elmslie, F.; Stals, K.; Gupta, R.; Bertini, E.; Thiffault, I.; Taft, R. J.; Schiffmann, R.; Brandl, U.; Haack, T. B.; Salomons, G. S.; Simons, C.; Bernard, G.; van der Knaap, M. S.; Vanderver, A.; Husain, R. A.

Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, 'Expanded phenotype of AARS1-related white matter disease', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359. https://doi.org/10.1038/s41436-021-01286-8

Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Paolucci S; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Bello L; Neurology Unit, Azienda Ospedale Padova Università Padova, Padua, Italy.; D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Berardinelli A; C. Mondino Foundation, Pavia, Italy.; Catteruccia M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; De Luca G; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Masson R; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Zanin R; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Battini R; Department Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Department Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Dosi C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Frosini S; Department Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Gardani A; C. Mondino Foundation, Pavia, Italy.; Buchignani B; Department Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Department of Translational Research and of New Surgical, Medical Technologies Pisa University, Pisa, Italy.; Capasso A; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Ricci F; Child Neuropsychiatry Unit, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.; Cicala G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Cavallina I; Child Neuropsychiatry Unit, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.; Rolle E; Neuromuscular Unit, Department of Neurosciences, University of Turin, Turin, Italy.; Mongini TE; Neuromuscular Unit, Department of Neurosciences, University of Turin, Turin, Italy.; Sansone VA; Neurorehabilitation Unit, The NEMO Center in Milan, University of Milan, ASST Niguarda Hospital, Milan, Italy.; Albamonte E; Neurorehabilitation Unit, The NEMO Center in Milan, University of Milan, ASST Niguarda Hospital, Milan, Italy.; Pini A; Pediatric Neuromuscular Unit, IRCCS Institute of the Neurological Sciences of Bologna, Bologna, Italy.; Giannotta M; Pediatric Neuromuscular Unit, IRCCS Institute of the Neurological Sciences of Bologna, Bologna, Italy.; Panicucci C; Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, Center of Translational and Experimental Myology, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Not R; Pediatric Neuromuscular Unit, IRCCS Institute of the Neurological Sciences of Bologna, Bologna, Italy.; Bruno C; Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, Center of Translational and Experimental Myology, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Nigro V; Medical Genetics and Cardiomyology Unit, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; TIGEM, Pozzuoli, Italy.; Picillo E; Medical Genetics and Cardiomyology Unit, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Napoli, Italy.; Pegoraro E; Neurology Unit, Azienda Ospedale Padova Università Padova, Padua, Italy.; Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Di Feo MF; Folkhälsan Research Center, Helsinki, Finland. mariafrancesca.difeo@helsinki.fi.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland. mariafrancesca.difeo@helsinki.fi.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. mariafrancesca.difeo@helsinki.fi.; Rees M; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Lillback V; Folkhälsan Research Center, Helsinki, Finland.; Kho AL; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Meybatova A; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Holt M; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Jungbluth H; Children's Neuroscience Centre, Evelina London Children's Hospital, Guy's and St, Thomas' Hospital NHS Foundation Trust, London, UK.; Muntoni F; The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Baranello G; The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Sarkozy A; The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Fiorillo C; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Baratto S; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Bruno C; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Traverso M; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Iacomino M; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Pedemonte M; Pediatric Neurology and Muscle Diseases Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Brolatti N; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Faravelli F; Clinical Genetics and Genomics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Zara F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Mandarà GML; Maria Paternò Arezzo Hospital, Ragusa, Italy.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Barraza-Flores P; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Rodolico C; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Schnabel F; University of Leipzig Medical Center, Leipzig, Germany.; Balogh I; Faculty of Medicine, Department of Medical Genetics, University of Debrecen, Debrecen, Hungary.; Szakszon K; Faculty of Medicine, Institute of Paediatrics, University of Debrecen, Debrecen, Hungary.; Sarv S; Genetic and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Õunap K; Genetic and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Ricci FS; Department of Public Health and Pediatrics, University of Turin, Regina Margherita Children's Hospital, Turin, Italy.; Mussa A; Department of Public Health and Pediatrics, University of Turin, Regina Margherita Children's Hospital, Turin, Italy.; Malfatti E; Université Paris Est Créteil, Inserm U955, IMRB, Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Créteil, France.; Bertini ES; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; D'Amico A; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Diodato D; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Catteruccia M; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, Australia.; Johari M; Harry Perkins Institute of Medical Research, Nedlands, Australia.; Kurbatov SA; Voronezh State Medical University, Voronezh, Russian Federation.; Chausova P; Research Centre for Medical Genetics, Moscow, Russia.; Murtazina A; Research Centre for Medical Genetics, Moscow, Russia.; Kuchina A; Research Centre for Medical Genetics, Moscow, Russia.; Shchagina O; Research Centre for Medical Genetics, Moscow, Russia.; Drakos M; Neurology/Neurogenetics Laboratory, Medical School, University of Crete, Rethymno, Greece.; Spilioti M; 1 st Neurology Department, AHEPA University Hospital, Thessaloniki, Greece.; Evangeliou AE; Division of Child Neurology, St. Luke's Hospital, Thessaloniki, Greece.; Zaganas I; Neurology Department, Medical School, University of Crete, Heraklion, Crete, Greece.; University Hospital of Heraklion, Heraklion, Crete, Greece.; Zhong H; Huashan Rare Disease Centre and Department of Neurology, Huashan Hospital, Shanghai Medical College, National Centre for Neurological Disorders, Fudan University, Shanghai, 200040, China.; Luo S; Huashan Rare Disease Centre and Department of Neurology, Huashan Hospital, Shanghai Medical College, National Centre for Neurological Disorders, Fudan University, Shanghai, 200040, China.; Merlini L; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136, Bologna, Italy.; Nguyen CT; CHU Sainte-Justine, Montreal, QC, Canada.; Tasca G; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 3BZ, UK.; Reeves T; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 3BZ, UK.; Mörner S; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.; Danielsson O; Division of Neurology, Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping, Sweden.; Udd B; Folkhälsan Research Center, Helsinki, Finland.; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland.; Gautel M; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Savarese M; Folkhälsan Research Center, Helsinki, Finland.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Pera M. C.; Coratti G.; Pane M.; Masson R.; Sansone V. A.; D'Amico A.; Catteruccia M.; Agosto C.; Varone A.; Bruno C.; Messina S.; Ricci F.; Bruno I.; Procopio E.; Pini A.; Siliquini S.; Zanin R.; Albamonte E.; Berardinelli A.; Mastella C.; Baranello G.; Previtali S. C.; Trabacca A.; Bravetti C.; Gagliardi D.; Filosto M.; de Sanctis R.; Finkel R.; Mercuri E.; Gardani A.; Costantino M. A.; Bitetti I.; Franguel M. T.; Sframeli M.; Magnolato A.; Rausa M.; Pagliaccia E.; Negri M.; Del Monaco C.; Berti B.; Leone D.; Palermo C.; Bertini E.; Longo A.; Dosi C.; Carnicella S.; Morando S.; Brolatti N.; Vento A.; Cavallina I.; Ferrante R.; Bernasconi L.; Piastra M.; Genovese O.; Forcina N.; Benedetti F.; Damioli S.; Fanelli L.; Stanca G.; Norcia G.; Sacchini M.; Ticci C.; Briganti E.

eClinicalMedicine

Coratti G.; Civitello M.; Rohwer A.; Albamonte E.; Montes J.; Glanzman A. M.; Pasternak A.; De Sanctis R.; Young S. D.; Duong T.; Mizzoni I.; Milev E.; Sframeli M.; Morando S.; D'Amico A.; Catteruccia M.; Brolatti N.; Pane M.; Scoto M.; Messina S.; Hirano M.; Zolkipli-Cunningham Z.; Darras B. T.; Bertini E.; Bruno C.; Sansone V. A.; Salmin F.; Day J.; Baranello G.; Pera M. C.; Muntoni F.; Finkel R. S.; Mercuri E.

Neuromuscular Disorders. 44:104449

Capasso A; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Cicala G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Ricci M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Bruno C; Center of Translational and Experimental Myology, and Dept. of NeuroscienceGenetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini Rehabilitation Ophtalmology, Genoa, Italy.; Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.; Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Bello L; Neurology Unit, Azienda Ospedale Padova Università Padova, Padua, Italy.; Pegoraro E; Neurology Unit, Azienda Ospedale Padova Università Padova, Padua, Italy.; D'Angelo MG; Unit of Rare Diseases of the Central and Peripheral Nervous System Scientific Institute IRCCS E Medea, Bosisio Parini (Lecco), Italy.; Masson R; Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy.; Berardinelli A; C. Mondino Foundation, Pavia, Italy.; Pini A; Pediatric Neuromuscular Unit, IRCCS Institute of the , Neurological Sciences of Bologna, Bologna, Italy.; Ricci F; Child Neuropsychiatry Unit, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.; Mongini TE; Neuromuscular Unit, Department of Neurosciences, University of Turin, Turin, Italy.; Coccia M; Centro Clinico NeMO (NeuroMuscular Omnicentre) Ancona, AOU Ospedali Riuniti Di Ancona, Ancona, Italy.; Nigro V; Medical Genetics and Cardiomyology Unit, Department of Precision Medicine, Università Degli Studi Della Campania 'Luigi Vanvitelli', Naples, Italy and TIGEM, Pozzuoli, Italy.; Trabacca A; Scientific Institute IRCCS E. Medea, Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Brindisi, Italy.; Filosto M; Department of Clinical and Experimental Sciences, University of Brescia (Italy), Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.; Comi G; Neurology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Magri F; Neurology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Barp A; Centro Clinico Nemo Trento, Ospedale Villarosa, APSS, Pergine Valsugana, Trento, Italy.; Battini R; Department Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Department Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Previtali SC; Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Valentino ML; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy.; Diella E; Unit of Rare Diseases of the Central and Peripheral Nervous System Scientific Institute IRCCS E Medea, Bosisio Parini (Lecco), Italy.; Dosi C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy.; Ruggiero L; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.; Siciliano G; Department of Clinical and Experimental Medicine, Neurology Unit, Pisa, Italy.; Ricci G; Department of Clinical and Experimental Medicine, Neurology Unit, Pisa, Italy.; Catteruccia M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Arpaia C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Norcia G; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Bonanno S; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Verriello L; Neurology Unit, Department of Neurosciences, University Hospital Santa Maria Della Misericordia, Udine, Friuli-Venezia Giulia, Italy.; Agosto C; Dipartimento Di Salute Della Donna E del Bambino, Università Di Padova, Padua, Italy.; Varone A; Pediatric Neurology, Santobono-Pausilipon Childrens Hospital, Naples, Italy.; Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Maioli MA; Centro Sclerosi Multipla, ASSL Cagliari, P.O. Binaghi, Cagliari, Italy.; Brogna C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.; Siliquini S; Azienda Ospedaliera Universitaria Delle Marche. Ancona, Ancona, Italy.; Bruno I; Institute for Maternal and Child Health, IRCCS, Trieste, Burlo Garofolo, Italy.; Panicucci C; Center of Translational and Experimental Myology, and Dept. of NeuroscienceGenetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini Rehabilitation Ophtalmology, Genoa, Italy.; Allegra C; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.; Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. eugeniomaria.mercuri@unicatt.it.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy. eugeniomaria.mercuri@unicatt.it.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE