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.

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.

Autor: Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Stanca G; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., D' Amico A; Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Berti B; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Fanelli L; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Ausili Cefaro C; Speech Language Pathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Lazio, Italy., Cerchiari A; Feeding and Swallowing Services Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Catteruccia M; Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., De Sanctis R; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Leone D; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Palermo C; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Buchignani B; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Kuczynska EM; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Tosi M; Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Bravetti C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Tiziano FD; Department of Life Sciences and Public Health, Section of Genomic Medicine, Università Cattolica del Sacro Cuore, Rome, Italy., Bertini E; Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. eugeniomaria.mercuri@policlinicogemelli.it.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. eugeniomaria.mercuri@policlinicogemelli.it.

Publikováno v: European journal of pediatrics [Eur J Pediatr] 2024 Nov; Vol. 183 (11), pp. 4735-4745. Date of Electronic Publication: 2024 Aug 29.

Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.

Autor: Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy., Sahin E; Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Bartolucci M; Core Facilities-Clinical Proteomics and Metabolomics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Casalini S; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy., Brolatti N; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy., Pedemonte M; Pediatric Neurology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Baratto S; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy., Pintus S; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy., Principi E; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy., D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Pane M; Centro Clinico Nemo, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Sframeli M; Department of Neurosciences, University of Messina, Messina, Italy., Messina S; Department of Neurosciences, University of Messina, Messina, Italy., Albamonte E; Neurorehabilitation Unit, Centro Clinico NeMO, University of Milan, Milan, Italy., Sansone VA; Neurorehabilitation Unit, Centro Clinico NeMO, University of Milan, Milan, Italy., Mercuri E; Centro Clinico Nemo, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Sezerman U; Department of Biostatistics and Medical Informatics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Petretto A; Core Facilities-Clinical Proteomics and Metabolomics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy. claudiobruno@gaslini.org.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health- DINOGMI, University of Genova, Genova, Italy. claudiobruno@gaslini.org.

Publikováno v: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 Sep 10; Vol. 81 (1), pp. 393. Date of Electronic Publication: 2024 Sep 10.

Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.

Autor: Coratti G; Pediatric Neurology Unit, Catholic University, 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., Pera MC; Pediatric Neurology Unit, Catholic University, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Civitello M; St Jude Children's Research Hospital, Memphis, Tennessee, USA., Rohwer A; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Salmin F; NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Glanzman AM; Department of Physical Therapy Rehabilitation, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Montes J; Columbia University Irving Medical Center, New York, New York, USA., Pasternak A; Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., De Sanctis R; Pediatric Neurology Unit, Catholic University, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, 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., Mizzoni I; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Milev E; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Morando S; Center of Translational and Experimental Myology, Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy., Albamonte E; NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Brolatti N; Center of Translational and Experimental Myology, Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy., Pane M; Pediatric Neurology Unit, Catholic University, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Scoto M; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Escudero JE; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., De Waele L; Department of Child Neurology, University Hospital Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Hirano M; Columbia University Irving Medical Center, New York, New York, USA., Zolkipli-Cunningham Z; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, 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, Rome, Italy., Nascimiento Osorio A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Bruno C; Center of Translational and Experimental Myology, Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy., Goemans N; Department of Child Neurology, University Hospital Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Sansone VA; NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Day J; Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA., Baranello G; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Muntoni F; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Finkel R; Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy., Mercuri E; Pediatric Neurology Unit, Catholic University, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Dec; Vol. 31 (12), pp. e16517. Date of Electronic Publication: 2024 Oct 11.

Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.

Autor: Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Bovis F; Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy., Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Scoto M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, UK., Montes J; Columbia University Irving Medical Center, New York, New York, USA., Pasternak A; Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Mayhew A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Muni-Lofra R; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Duong T; Department of Neurology TD, Stanford University, Palo Alto, California, USA., Rohwer A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, UK., Dunaway Young S; Department of Neurology TD, Stanford University, Palo Alto, California, USA., Civitello M; St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Salmin F; NEMO Clinical Center, Milan, Italy., Mizzoni I; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Morando S; Center of Myology and Neurodegenerative Disorders, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Albamonte E; NEMO Clinical Center, Milan, Italy., D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Brolatti N; Center of Myology and Neurodegenerative Disorders, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Sansone VA; NEMO Clinical Center, Milan, Italy.; Department of Biomedical Sciences for Health, University of Milan, Milan, Italy., Bruno C; Center of Myology and Neurodegenerative Disorders, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Baranello G; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, UK.; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK., Day J; Department of Neurology TD, Stanford University, Palo Alto, California, USA., Darras BT; Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., De Vivo DC; Columbia University Irving Medical Center, New York, New York, USA., Hirano M; Columbia University Irving Medical Center, New York, New York, USA., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, UK.; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK., Finkel R; St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Aug; Vol. 31 (8), pp. e16309. Date of Electronic Publication: 2024 Apr 24.