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Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea, Guja; Romano, Alessandro; Angelini, Corrado; Antozzi, Carlo Giuseppe; Barresi, Rita; Battini, Roberta; Battisti, Carla; Bertini, Enrico; Bruno, Claudio; Cassandrini, Denise; Fanin, Marina; Fattori, Fabiana; Fiorillo, Chiara; Guerrini, Renzo; Maggi, Lorenzo; Mercuri, Eugenio; Morani, Federica; Mora, Marina; Moro, Francesca; Pezzini, Ilaria; Picillo, Esther; Pinelli, Michele; Politano, Luisa; Rubegni, Anna; Sanseverino, Walter; Savarese, Marco; Striano, Pasquale; Torella, Annalaura; Trevisan, Carlo Pietro; Trovato, Rosanna; Zaraieva, Irina; Muntoni, Francesco; Nigro, Vincenzo; D'Amico, Adele; Santorelli, Filippo M.
Afiliação
  • Astrea G; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy. gastrea@fsm.unipi.it.
  • Romano A; Neuropathology Unit, Institute of Experimental Neurology and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Angelini C; Fondazione San Camillo Hospital IRCCS, Lido Venice, Italy.
  • Antozzi CG; Department of Neuroimmunology and Neuromuscular Disorders, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy.
  • Barresi R; Rare Diseases Advisory Group Service for Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital, and The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
  • Battini R; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.
  • Battisti C; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Bertini E; Department of Medical, Surgical and Neurosciences, University of Siena, Siena, Italy.
  • Bruno C; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
  • Cassandrini D; Center of Myology and Neurodegenerative Disorders, G. Gaslini Institute, Genoa, Italy.
  • Fanin M; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.
  • Fattori F; Neurological Science Department and Venetian Institute of Molecular Medicine, University of Padua, Padua, Italy.
  • Fiorillo C; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
  • Guerrini R; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genoa, Italy.
  • Maggi L; Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Mercuri E; Department of Neuroimmunology and Neuromuscular Disorders, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy.
  • Morani F; Pediatric Neurology Unit, Department of Women's and Children's Health, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Mora M; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.
  • Moro F; Department of Neuroimmunology and Neuromuscular Disorders, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy.
  • Pezzini I; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.
  • Picillo E; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.
  • Pinelli M; Cardiomyology and Genetic Section, Department of Internal and Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Politano L; Department of Translational Medicine, Federico II University, Naples, Italy.
  • Rubegni A; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Sanseverino W; Cardiomyology and Genetic Section, Department of Internal and Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Savarese M; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.
  • Striano P; Sequentia Biotech SL, Barcelona, Spain.
  • Torella A; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Trevisan CP; Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.
  • Trovato R; Folkhälsan Institute of Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
  • Zaraieva I; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genoa, Italy.
  • Muntoni F; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Nigro V; Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.
  • D'Amico A; Department of Neurological and Psychiatric Sciences, University of Padua, Padua, Italy.
  • Santorelli FM; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.
Orphanet J Rare Dis ; 13(1): 170, 2018 09 26.
Article em En | MEDLINE | ID: mdl-30257713
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Distrofias Musculares Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Distrofias Musculares Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido