ArticleFrontiers in genetics2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
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Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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49citing papers in PubMed
4.6field-weighted citation impact, top 4% of its field
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49 citing papers in PubMed, 84 citations in OpenAlex.
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- Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants.SAGE open medical case reports · 2025Article
- Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.The application of clinical genetics · 2025Article
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- Incidental finding of aFrontiers in pediatrics · 2025Article
- Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.European journal of pediatrics · 2024Article
- Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.Journal, genetic engineering & biotechnology · 2024Article
- Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells.Skeletal muscle · 2024Article
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- A novel deep intronic variant introduceHeliyon · 2024Article
- Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.European journal of medical research · 2024Article
- The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.Journal of neuromuscular diseases · 2024Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies.Scientific reports · 2023Article
- NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.BMC medical genomics · 2023Article
- Alu-Mediated Insertions in theInternational journal of molecular sciences · 2023Article
- Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.Journal of personalized medicine · 2023Article
- A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring.International journal of molecular sciences · 2023Article
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Authors and funding
55 authors at 20 institutions in 2 countries.
Marcella NeriUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Rachele RossiUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Cecilia TrabanelliUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Antonio MauroUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Rita SelvaticiUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Maria Sofia FalzaranoUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Noemi SpedicatoUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Alice MarguttiUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Paola RimessiUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Fernanda FortunatoUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Marina FabrisUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Francesca GualandiUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Giacomo ComiNeuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Silvana TedeschiLaboratory of Medical Genetics, IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Manuela SeiaLaboratory of Medical Genetics, IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Chiara FiorilloPaediatric Neurology and Muscular Diseases Unit, University of Genoa and G. Gaslini Institute, Genoa, Italy.
Monica TraversoPaediatric Neurology and Muscular Diseases Unit, University of Genoa and G. Gaslini Institute, Genoa, Italy.
Claudio BrunoCenter of Translational and Experimental Myology, IRCCS Gaslini, Genova, Italy.
Emiliano GiardinaMolecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
Maria Rosaria PiemonteseDivision of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
Giuseppe MerlaDivision of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
Milena CauLaboratory of Genetics and Genomics, Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.
Monica MaricaClinica Pediatrica e Malattie Rare, Brotzu, Cagliari, Italy.
Carmela ScuderiUnit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Troina, Italy.
Eugenia BorgioneUnit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Troina, Italy.
Alessandra TessaDepartment of Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Guia AstreaDepartment of Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Filippo Maria SantorelliDepartment of Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Luciano MerliniDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Marina MoraNeuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pia BernasconiNeuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Sara GibertiniNeuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Valeria SansoneNeurorehabilitation Unit, Department Biomedical Sciences for Health, University of Milan, Milan, Italy.
Tiziana MonginiNeuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Turin, Italy.
Angela BerardinelliChild Neurology and Psychiatry Unit, "Casimiro Mondino" Foundation, Pavia, Italy.
Antonella PiniChild Neurology Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
Rocco LiguoriDepartment of Biomedical and Neuro Motor Sciences, University of Bologna, Bologna, Italy.
Massimiliano FilostoLaboratory of Medical Genetics, IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Sonia MessinaDepartment of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center, Messina, Italy.
Gianluca VitaDepartment of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center, Messina, Italy.
Antonio ToscanoDepartment of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center, Messina, Italy.
Giuseppe VitaDepartment of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center, Messina, Italy.
Marika PaneCentro Clinico Nemo, Policlinico A. Gemelli, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Serenella ServideiUOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
Elena PegoraroDepartment of Neurosciences, University of Padua, Padua, Italy.
Luca BelloDepartment of Neurosciences, University of Padua, Padua, Italy.
Lorena TravagliniUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy.
Enrico BertiniUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy.
Adele D'AmicoUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy.
Manuela ErgoliCardiomiology and Medical Genetics, University of Campania "Luigi Vanvitelli, Naples, Italy.
Luisa PolitanoCardiomiology and Medical Genetics, University of Campania "Luigi Vanvitelli, Naples, Italy.
Annalaura TorellaDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli, Naples, Italy.
Vincenzo NigroDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli, Naples, Italy.
Eugenio MercuriCentro Clinico Nemo, Policlinico A. Gemelli, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Alessandra FerliniUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
University of Ferrara · ITUniversity of Campania "Luigi Vanvitelli" · ITUniversity of Messina · ITBambino Gesù Children's Hospital · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITFondazione Stella Maris · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITCasa Sollievo della Sofferenza · ITCentro Clinico Nemo · ITFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITUniversity of Bologna · ITUniversity of Genoa · ITUniversity of Padua · ITAzienda Ospedaliera G. Brotzu · ITFerrari (Italy) · ITFondazione Istituto Neurologico Nazionale Casimiro Mondino · ITFondazione Santa Lucia · ITIstituto delle Scienze Neurologiche di Bologna · ITOasi Maria SS · ITOspedale Maggiore · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (
Indexed as
dystrophinexon skipping therapymuscular dystrophynationwide studyread-through therapy
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