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Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

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作者单位: 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. [1] Neuropathology Unit, Institute of Experimental Neurology and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. [2] Fondazione San Camillo Hospital IRCCS, Lido Venice, Italy. [3] Department of Neuroimmunology and Neuromuscular Disorders, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy. [4] 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. [5] Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy. [6] Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. [7] Department of Medical, Surgical and Neurosciences, University of Siena, Siena, Italy. [8] Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. [9] Center of Myology and Neurodegenerative Disorders, G. Gaslini Institute, Genoa, Italy. [10] Neurological Science Department and Venetian Institute of Molecular Medicine, University of Padua, Padua, Italy. [11] Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genoa, Italy. [12] Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy. [13] Pediatric Neurology Unit, Department of Women's and Children's Health, Università Cattolica del Sacro Cuore, Rome, Italy. [14] Cardiomyology and Genetic Section, Department of Internal and Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy. [15] Department of Translational Medicine, Federico II University, Naples, Italy. [16] Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy. [17] Sequentia Biotech SL, Barcelona, Spain. [18] Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy. [19] Folkhälsan Institute of Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland. [20] Department of Neurological and Psychiatric Sciences, University of Padua, Padua, Italy. [21] Dubowitz Neuromuscular Centre (F. Muntoni), UCL Great Ormond Street Institute of Child Health, London, UK. [22] NIHR Great Ormond Street Hospital Biomedical Research Centre, 30 Guilford Street, London, WC1N 1EH, UK. [23] Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy. filippo3364@gmail.com. [24]
DOI 10.1186/s13023-018-0863-x
PMID 30257713
发布时间 2022-04-10
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Orphanet journal of rare diseases

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