Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.

Autor: 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.

Publikováno v: European journal of pediatrics [Eur J Pediatr] 2024 Dec 16; Vol. 184 (1), pp. 86. Date of Electronic Publication: 2024 Dec 16.

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.

Autor: Gorgoglione D; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Sabbatini D; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy.; Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiac, Thoracic, Vascular Sciences, and Public Health, University of Padova, 35131 Padova, Italy., Riguzzi P; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Capece G; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy., Servidei S; Neurophysiopathology unit Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy., Briganti M; Neurophysiopathology unit Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Fondazione UILDM Lazio Onlus, 00167 Rome, Italy., Sancricca C; Neurophysiopathology unit Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Fondazione UILDM Lazio Onlus, 00167 Rome, Italy., Bruschi F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Ardissone A; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Masson R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Gallone A; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy., Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy., Picillo E; Medical Genetics and Cardiomyology, University of Campania 'Luigi Vanvitelli', 80138 Napoli, Italy., Politano L; Cardiomyology and Medical Genetics, University of Campania 'Luigi Vanvitelli', 80138 Napoli, Italy., Petrosino A; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Vianello S; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Penzo M; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Villa M; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Allegra C; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Barp A; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Di Bari A; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Salmin F; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Albamonte E; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Colacicco G; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Traverso M; Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Palermo C; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy., Lerario A; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy., Velardo D; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy., D'Angelo MG; Unit of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS Eugenio Medea, 23842 Bosisio Parini, Italy., Berardinelli A; IRCCS Mondino Foundation, 27100 Pavia, Italy., Gardani A; IRCCS Mondino Foundation, 27100 Pavia, Italy., Nicotra R; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy., Parravicini S; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy., Siciliano G; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy., Ricci G; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy., Torri F; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy., Gadaleta G; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., Urbano G; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., Rolle E; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., Ricci F; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., D'Amico A; IRCCS, Unit of Muscular and Neurodegenerative disorders, Bambino Gesù Children's Hospital, 00165 Rome, Italy., Catteruccia M; IRCCS, Unit of Muscular and Neurodegenerative disorders, Bambino Gesù Children's Hospital, 00165 Rome, Italy., Pini A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Neuromuscular Pediatric Unit, 40139 Bologna, Italy., Giannotta M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Neuromuscular Pediatric Unit, 40139 Bologna, Italy., Battini R; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Marinella G; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Previtali SC; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Zambon AA; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy., Fortunato F; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy., Magri F; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy., Mongini TE; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., Sansone VA; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health-DINOGMI, University of Genova, 16132 Genova, Italy., Messina S; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Nigro V; Medical Genetics and Cardiomyology, University of Campania 'Luigi Vanvitelli', 80138 Napoli, Italy.; Telethon Institute of Genetics and Medicine, 80078, Italy., Moroni I; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy., Bello L; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Pegoraro E; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Nov 05. Date of Electronic Publication: 2024 Nov 05.

A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.

Autor: Decio A; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy. alice.decio@lanostrafamiglia.it., Marelli S; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy., Mambretti F; Molecular Biology Laboratory, IRCCS Eugenio Medea, Bosisio Parini (LC), Italy., Bassi MT; Molecular Biology Laboratory, IRCCS Eugenio Medea, Bosisio Parini (LC), Italy., D'Angelo MG; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy.

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Aug; Vol. 45 (8), pp. 4077-4081. Date of Electronic Publication: 2024 Mar 14.

Psychosocial resources and psychopathology among persons with neuromuscular disorders during the COVID-19 pandemic.

Autor: Sanzo' S; Department of Pathophysiology and Transplantation, University of Milano, Milan, Italy., Tizzoni F; Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy., Previtali SC; Neuromuscular Repair Unit, Inspe and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy., Berardinelli A; Child and Adolescence Neurology Unit, National Neurological Institute C. Mondino Foundation IRCCS, Pavia, Italy., Nobile M; Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy. maria.nobile@lanostrafamiglia.it., Molteni M; Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy., Manzoni M; Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy., Tarabelloni A; Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy., Russo A; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy., Delle Fave A; Department of Pathophysiology and Transplantation, University of Milano, Milan, Italy., D'Angelo MG; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.

Publikováno v: BMC psychology [BMC Psychol] 2024 Apr 29; Vol. 12 (1), pp. 243. Date of Electronic Publication: 2024 Apr 29.

Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia.

Autor: Diella E; Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy., D'Angelo MG; Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy., Stefan C; Scientific Institute, IRCCS E. Medea, Pieve di Soligo, Treviso, Italy., Girardi G; Scientific Institute, IRCCS E. Medea, Pieve di Soligo, Treviso, Italy., Morganti R; Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy., Martinuzzi A; Scientific Institute, IRCCS E. Medea, Conegliano, Treviso, Italy., Biffi E; Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy.

Publikováno v: PloS one [PLoS One] 2024 Apr 01; Vol. 19 (4), pp. e0301452. Date of Electronic Publication: 2024 Apr 01 (Print Publication: 2024).