Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
Autorzy:
Coratti G; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Lenkowicz J; Fondazione Policlinico Universitario A.Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy. Norcia G; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Lucibello S; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Ferraroli E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. d'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy. Bello L; Department of Neurosciences, University of Padua, Padua, Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy. Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy. Berardinelli A; IRCCS Mondino Foundation, Pavia, Italy. Masson R; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. PrevitaliSC; Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. D'angelo G; Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy. Magri F; Dino Ferrari Centre, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. Comi GP; Dino Ferrari Centre, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. Politano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy. Passamano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy. Vita G; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, ASST Niguarda Hospital, University of Milan, Milan, Italy. Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, ASST Niguarda Hospital, University of Milan, Milan, Italy. Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health-DINOGMI, University of Genova, Genoa, Italy. Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health-DINOGMI, University of Genova, Genoa, Italy. Pini A; Neuromuscular Pediatric Unit, UOC di Neuropsichiatria dell'età pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy. Patarnello S; Fondazione Policlinico Universitario A.Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy. Pane M; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Mercuri E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies.
Autorzy:
Bosco L; Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy. Falzone YM; Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy. PrevitaliSC; Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
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Źródło:
Brain sciences [Brain Sci] 2021 Sep 18; Vol. 11 (9). Date of Electronic Publication: 2021 Sep 18.
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
Autorzy:
Coratti G; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Pane M; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Brogna C; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Ricotti V; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Nemo SUD Clinical Centre, University Hospital 'G. Martino', Messina, Italy. D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy. Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Vita G; Nemo SUD Clinical Centre, University Hospital 'G. Martino', Messina, Italy. Berardinelli A; IRCCS Mondino Foundation, Pavia, Italy. Mazzone E; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy. Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy. Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. Bello L; Department of Neurosciences, University of Padua, Padua, Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. Baranello G; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. PrevitaliSC; Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. Politano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy. Comi GP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, ASST Niguarda Hospital, University of Milan, Milan, Italy. Donati A; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy. Hogrel JY; Institute I-Motion, Hôpital Armand Trousseau, Institute of Myology, Paris, France. Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom. De Lucia S; Institute I-Motion, Hôpital Armand Trousseau, Institute of Myology, Paris, France. Niks E; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. Servais L; Centre de Référence Des Maladies Neuromusculaires, CHU de Liège, Liège, Belgium.; Department of Paediatrics, MDUK Neuromuscular Center, University of Oxford, Oxford, United Kingdom. De Groot I; Department of Rehabilitation, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands. Chesshyre M; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy. Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium. Muntoni F; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Mercuri E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Loss of function MPZ mutation causes milder CMT1B neuropathy.
Autorzy:
Howard P; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Feely SME; University of Iowa Healthcare Neurology, Iowa City, Iowa, USA. Grider T; University of Iowa Healthcare Neurology, Iowa City, Iowa, USA. Bacha A; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Scarlato M; Institute of Experimental Neurology (InSpe) and Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy. Fazio R; Institute of Experimental Neurology (InSpe) and Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy. Quattrini A; Institute of Experimental Neurology (InSpe) and Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy. Shy ME; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. PrevitaliSC; Institute of Experimental Neurology (InSpe) and Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy.
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Autorzy:
Ricci G; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. Mele F; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. Govi M; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. Ruggiero L; Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy. Sera F; Department of Statistics, Computer Science and Applications 'G. Parenti', University of Florence, Florence, Italy. Vercelli L; Department of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin, Italy. Bettio C; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via G. Campi 287, 41125, Modena, Italy.; Center for Neuroscience and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy. Santoro L; Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy. Mongini T; Department of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin, Italy. Villa L; Neuromuscular Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, University of Milan, Milan, Italy. Moggio M; Neuromuscular Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, University of Milan, Milan, Italy. Filosto M; Neurology Clinic, Spedali Civili Hospital, Brescia, Italy. Scarlato M; INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. PrevitaliSC; INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. Tripodi SM; Department of Neurosciences, University of Padua, Padua, Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. Telese R; Center for Neuromuscular Disease, CeSI, University 'G. D'Annunzio', Chieti, Italy. Di Muzio A; Center for Neuromuscular Disease, CeSI, University 'G. D'Annunzio', Chieti, Italy. Rodolico C; Department of Neurosciences, Policlinico 'G. Martino', University of Messina, Messina, Italy. Bucci E; Department of Neuroscience, Mental Health and Sensory Organs, S. Andrea Hospital, University of Rome 'La Sapienza', Rome, Italy. Antonini G; Department of Neuroscience, Mental Health and Sensory Organs, S. Andrea Hospital, University of Rome 'La Sapienza', Rome, Italy. D'Angelo MG; Department of Neurorehabilitation, IRCCS Eugenio Medea, Bosisio Parini, Italy. Berardinelli A; Unit of Child Neurology and Psychiatry, IRCCS 'C. Mondino' Foundation, Pavia, Italy. Maggi L; IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy. Piras R; ASL8, Centro Sclerosi Multipla, Cagliari, Italy. Maioli MA; ASL8, Centro Sclerosi Multipla, Cagliari, Italy. Siciliano G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. Tomelleri G; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via G. Campi 287, 41125, Modena, Italy.; Center for Neuroscience and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy. Angelini C; IRCCS San Camillo, Venice, Italy. Tupler R; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. .; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via G. Campi 287, 41125, Modena, Italy. .; Center for Neuroscience and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy. .; Department of Molecular Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, USA. .; Li Weibo Institute for Rare Diseases Research at the University of Massachusetts Medical School, Worcester, USA. .
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Źródło:
Scientific reports [Sci Rep] 2020 Dec 10; Vol. 10 (1), pp. 21648. Date of Electronic Publication: 2020 Dec 10.
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Autorzy:
Brogna C; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Coratti G; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Pane M; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Ricotti V; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Nemo SUD Clinical Centre, University Hospital 'G. Martino', Messina, Italy. D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy. Bruno C; Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy. Vita G; Nemo SUD Clinical Centre, University Hospital 'G. Martino', Messina, Italy. Berardinelli A; Child Neurology and Psychiatry Unit, ''Casimiro Mondino' Foundation, Pavia, Italy. Mazzone E; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Torino, Italy. Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Torino, Italy. Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. Bello L; Department of Neurosciences, University of Padua, Padua, Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. Baranello G; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. PrevitaliSC; Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. Politano L; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Comi GP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, 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. Donati A; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy. Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy. Muntoni F; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom. Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium. Mercuri E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy.
Autorzy:
Godi C; Neuroradiology Department Neuroradiology Research Group and CERMAC San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy. Ambrosi A; CUSSB University Centre for Biomedical Sciences Vita-Salute San Raffaele University Milan Italy. Nicastro F; Laboratory of Analysis and Rehabilitation of Motor Function Division of Neuroscience San Raffaele Scientific Institute Milan Italy. PrevitaliSC; Division of Neuroscience Institute of Experimental Neurology (INSpe) San Raffaele Scientific Institute Milan Italy. Santarosa C; Neuroradiology Department Neuroradiology Research Group and CERMAC San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy. Napolitano S; San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET) and Pediatric Immunohematology and Bone Marrow Transplantation Unit San Raffaele Scientific Institute Milan Italy. Iadanza A; Neuroradiology Department Neuroradiology Research Group and CERMAC San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy. Scarlato M; Division of Neuroscience Institute of Experimental Neurology (INSpe) San Raffaele Scientific Institute Milan Italy. Natali Sora MG; Division of Neuroscience Institute of Experimental Neurology (INSpe) San Raffaele Scientific Institute Milan Italy. Tettamanti A; Laboratory of Analysis and Rehabilitation of Motor Function Division of Neuroscience San Raffaele Scientific Institute Milan Italy. Gerevini S; Neuroradiology Department Neuroradiology Research Group and CERMAC San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy. Cicalese MP; San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET) and Pediatric Immunohematology and Bone Marrow Transplantation Unit San Raffaele Scientific Institute Milan Italy. Sitzia C; Stem Cell Laboratory Department of Pathophysiology and Transplantation Universitá degli Studi di Milano Fondazione IRCCS Cá Granda Ospedale Maggiore Policlinico Centro Dino Ferrari, Milan Italy. Venturini M; Radiology Department San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy. Falini A; Neuroradiology Department Neuroradiology Research Group and CERMAC San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy. Gatti R; Laboratory of Analysis and Rehabilitation of Motor Function Division of Neuroscience San Raffaele Scientific Institute Milan Italy. Ciceri F; Hematology and BMT Unit San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy. Cossu G; Institute of Inflammation and Repair University of Manchester Manchester United Kingdom. Torrente Y; Stem Cell Laboratory Department of Pathophysiology and Transplantation Universitá degli Studi di Milano Fondazione IRCCS Cá Granda Ospedale Maggiore Policlinico Centro Dino Ferrari, Milan Italy. Politi LS; Neuroradiology Department Neuroradiology Research Group and CERMAC San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy; Neuroimaging Research Division of Hematology/Oncology Boston Children's Hospital Boston MA USA; Department of Pediatrics Harvard Medical School Boston MA USA; University of Massachusetts Memorial Medical Center and University of Massachusetts Medical School Worcester MA USA.
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold.
Autorzy:
Noseda R; Division of Neuroscience, INSPE-Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy. Guerrero-Valero M; Division of Neuroscience, INSPE-Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy. Alberizzi V; Division of Neuroscience, INSPE-Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy. PrevitaliSC; Division of Neuroscience, INSPE-Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy.; Department of Neurology, San Raffaele Scientific Institute, Milan, Italy. Sherman DL; Centre for Neuroregeneration, University of Edinburgh, Edinburgh, United Kingdom. Palmisano M; Hunter James Kelly Research Institute, Department of Biochemistry and Neurology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America. Huganir RL; The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America. Nave KA; Department of Neurogenetics, Max Planck Institute of Experimental Medicine, Goettingen, Germany. Cuenda A; Department of Immunology and Oncology, Centro Nacional de Biotecnología/CSIC, Madrid, Spain. Feltri ML; Hunter James Kelly Research Institute, Department of Biochemistry and Neurology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America. Brophy PJ; Centre for Neuroregeneration, University of Edinburgh, Edinburgh, United Kingdom. Bolino A; Division of Neuroscience, INSPE-Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy.
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Źródło:
PLoS biology [PLoS Biol] 2016 Apr 12; Vol. 14 (4), pp. e1002440. Date of Electronic Publication: 2016 Apr 12 (Print Publication: 2016).
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.
Autorzy:
Mazzone ES; Department of Paediatric Neurology, Catholic University, Rome, Italy. Coratti G; Department of Paediatric Neurology, Catholic University, Rome, Italy. Sormani MP; Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy. Messina S; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Pane M; Department of Paediatric Neurology, Catholic University, Rome, Italy. D'Amico A; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Colia G; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Fanelli L; Department of Paediatric Neurology, Catholic University, Rome, Italy. Berardinelli A; Child Neurology and Psychiatry Unit, 'C. Mondino' Foundation, Pavia, Italy. Gardani A; Child Neurology and Psychiatry Unit, 'C. Mondino' Foundation, Pavia, Italy. Lanzillotta V; Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy. D'Ambrosio P; Cardiomiologia e genetica medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Petillo R; Cardiomiologia e genetica medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Cavallaro F; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Frosini S; Department of Developmental Neuroscience, Stella Maris Institute, Pisa,Italy. Bello L; Department of Neurosciences, University of Padua, Padua, Italy. Bonfiglio S; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. De Sanctis R; Department of Paediatric Neurology, Catholic University, Rome, Italy. Rolle E; Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy. Forcina N; Department of Paediatric Neurology, Catholic University, Rome, Italy. Magri F; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCSS Foudation, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Vita G; Department of Neurosciences and Nemo and Clinical Center, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Palermo C; Department of Paediatric Neurology, Catholic University, Rome, Italy. Donati MA; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Procopio E; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Arnoldi MT; Developmental Neurology Unit, Istituto Neurologico 'Besta' Milan, Milan, Italy. Baranello G; Developmental Neurology Unit, Istituto Neurologico 'Besta' Milan, Milan, Italy. Mongini T; Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy. Pini A; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa,Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. Torrente Y; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCSS Foudation, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. PrevitaliSC; Neuromuscular repair unit, Inspe and division of neuroscience, IRCSS San Raffaele Scientific Institute, Milan, Italy. Bruno C; Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy. Politano L; Cardiomiologia e genetica medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCSS Foudation, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. D'Angelo MG; Neuromuscular Disorders Unit, Scientific Institute IRCCS E. Medea, 23842, Bosisio Parini, Lecco, Italy. Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Mercuri E; Department of Paediatric Neurology, Catholic University, Rome, Italy.
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Źródło:
PloS one [PLoS One] 2016 Mar 16; Vol. 11 (3), pp. e0151445. Date of Electronic Publication: 2016 Mar 16 (Print Publication: 2016).
Typ publikacji:
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.
Autorzy:
Scarlato M; Department of Neurology, INSPE and Division of Neuroscience, Milan, Italy. Viganò F; Human Inherited Neuropathies Unit, INSPE and Division of Neuroscience, Milan, Italy. Carrera P; Unit of Genomics for Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy. PrevitaliSC; Department of Neurology, INSPE and Division of Neuroscience, Milan, Italy. Bolino A; Human Inherited Neuropathies Unit, INSPE and Division of Neuroscience, Milan, Italy.
Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A.
Autorzy:
Domi T; Institute of Experimental Neurology (INSPE) and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milano, Italy. Porrello E; Institute of Experimental Neurology (INSPE) and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milano, Italy. Velardo D; Institute of Experimental Neurology (INSPE) and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milano, Italy. Capotondo A; Tiget and Division of Regenerative Medicine, IRCCS San Raffaele Scientific Institute, Milano, Italy. Biffi A; Tiget and Division of Regenerative Medicine, IRCCS San Raffaele Scientific Institute, Milano, Italy. Tonlorenzi R; Institute of Experimental Neurology (INSPE) and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milano, Italy. Amadio S; Institute of Experimental Neurology (INSPE) and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milano, Italy. Ambrosi A; University San Raffaele Vita e Salute, Milano, Italy. Miyagoe-Suzuki Y; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Ogawa-higashi, Kodaira, Tokyo Japan. Takeda S; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Ogawa-higashi, Kodaira, Tokyo Japan. Ruegg MA; Biozentrum, University of Basel, Basel, Switzerland. PrevitaliSC; Institute of Experimental Neurology (INSPE) and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milano, Italy.
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Źródło:
Skeletal muscle [Skelet Muscle] 2015 Sep 03; Vol. 5, pp. 30. Date of Electronic Publication: 2015 Sep 03 (Print Publication: 2015).
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Autorzy:
Robusto M; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy. Fang M; BGI-Shenzhen, Shenzhen, China. Asselta R; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy. Castorina P; Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UO Audiologia, Milan, Italy. PrevitaliSC; Division of Neuroscience, Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy. Caccia S; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy. Benzoni E; Laboratory of Medical Genetics, Molecular Genetic Sector, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy. De Cristofaro R; Haemostasis Research Center, Institute of Internal Medicine and Geriatrics, Catholic University School of Medicine, Rome, Italy. Yu C; BGI-Shenzhen, Shenzhen, China. Cesarani A; Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UO Audiologia, Milan, Italy. Liu X; BGI-Shenzhen, Shenzhen, China. Li W; BGI-Shenzhen, Shenzhen, China. Primignani P; Laboratory of Medical Genetics, Molecular Genetic Sector, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy. Ambrosetti U; Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UO Audiologia, Milan, Italy. Xu X; BGI-Shenzhen, Shenzhen, China. Duga S; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy. Soldà G; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy.
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
Autorzy:
Pane M; Department of Paediatric Neurology, Catholic University, Rome, Italy. Mazzone ES; Department of Paediatric Neurology, Catholic University, Rome, Italy. Sormani MP; Biostatistics Unit, Department of Health Sciences, University of Genoa, Italy. Messina S; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Vita GL; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Fanelli L; Department of Paediatric Neurology, Catholic University, Rome, Italy. Berardinelli A; Child Neurology and Psychiatry Unit, 'C. Mondino' Foundation, Pavia, Italy. Torrente Y; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. D'Amico A; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Lanzillotta V; Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy. Viggiano E; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. D'Ambrosio P; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Cavallaro F; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. Frosini S; Department of Developmental Neuroscience, Stella Maris Institute, University of Pisa, Pisa, Italy. Bello L; Department of Neurosciences, University of Padua, Padua, Italy. Bonfiglio S; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy. Scalise R; Department of Paediatric Neurology, Catholic University, Rome, Italy. De Sanctis R; Department of Paediatric Neurology, Catholic University, Rome, Italy. Rolle E; Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy. Bianco F; Department of Paediatric Neurology, Catholic University, Rome, Italy. Van der Haawue M; Pediatric Neurology KU Gasthuisberg, Leuven, Belgium. Magri F; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Palermo C; Department of Paediatric Neurology, Catholic University, Rome, Italy. Rossi F; Pediatric Neurology KU Gasthuisberg, Leuven, Belgium. Donati MA; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Alfonsi C; Department of Paediatric Neurology, Catholic University, Rome, Italy. Sacchini M; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy. Arnoldi MT; Developmental Neurology Unit, Istituto Neurologico 'Besta', Milan, Italy. Baranello G; Developmental Neurology Unit, Istituto Neurologico 'Besta', Milan, Italy. Mongini T; Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy. Pini A; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy. Battini R; Department of Developmental Neuroscience, Stella Maris Institute, University of Pisa, Pisa, Italy. Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy. PrevitaliSC; Department of Neurology, San Raffaele Scientific Institute, Milan, Italy. Napolitano S; Department of Neurology, San Raffaele Scientific Institute, Milan, Italy. Bruno C; Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy. Politano L; Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy. Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Morandi L; Neuromuscular Disease and Immunology Unit, Istituto Neurologico 'Besta', Milan, Italy. Gualandi F; Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy. Ferlini A; Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy. Goemans N; Pediatric Neurology KU Gasthuisberg, Leuven, Belgium. Mercuri E; Department of Paediatric Neurology, Catholic University, Rome, Italy.
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Źródło:
PloS one [PLoS One] 2014 Jan 08; Vol. 9 (1), pp. e83400. Date of Electronic Publication: 2014 Jan 08 (Print Publication: 2014).
Typ publikacji:
Clinical Trial; Journal Article; Observational Study; Research Support, Non-U.S. Gov't
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