Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

• Maria Carmela Pera ,

  Roles Conceptualization, Data curation, Investigation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  ¶‡ MCP and GC contributed equally as co-first authors.

  Affiliation Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy

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• Giorgia Coratti ,

  Roles Conceptualization, Data curation, Formal analysis, Methodology, Writing – original draft, Writing – review & editing

  ¶‡ MCP and GC contributed equally as co-first authors.

  Affiliation Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy

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• Beatrice Berti,

  Roles Investigation, Validation, Writing – review & editing

  Affiliation Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy

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• Adele D’Amico,

  Roles Conceptualization, Data curation, Methodology, Writing – original draft, Writing – review & editing

  Affiliation Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy

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• Maria Sframeli,

  Roles Conceptualization, Data curation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Department of Neurosciences, and Centro Clinico Nemo Sud, University of Messina, Messina, Italy

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• Emilio Albamonte,

  Roles Conceptualization, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Neurorehabilitation Unit, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, University of Milan, Milan, Italy

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• Roberto de Sanctis,

  Roles Conceptualization, Data curation, Investigation, Methodology, Writing – review & editing

  Affiliation Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy

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• Sonia Messina,

  Roles Conceptualization, Data curation, Investigation, Methodology, Writing – original draft, Writing – review & editing

  Affiliation Department of Neurosciences, and Centro Clinico Nemo Sud, University of Messina, Messina, Italy

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• Michela Catteruccia,

  Roles Conceptualization, Data curation, Investigation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy

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• Giorgia Brigati,

  Roles Data curation, Methodology, Validation, Writing – review & editing

  Affiliation Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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• Laura Antonaci,

  Roles Data curation, Methodology, Validation, Writing – review & editing

  Affiliation Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy

  http://orcid.org/0000-0003-4753-8441

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• Simona Lucibello,

  Roles Data curation, Formal analysis, Methodology, Writing – original draft, Writing – review & editing

  Affiliation Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy

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• Claudio Bruno,

  Roles Conceptualization, Data curation, Investigation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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• Valeria A. Sansone,

  Roles Conceptualization, Data curation, Investigation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Neurorehabilitation Unit, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, University of Milan, Milan, Italy

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• Enrico Bertini,

  Roles Conceptualization, Data curation, Investigation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy

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• Danilo Tiziano,

  Roles Data curation, Investigation, Methodology, Supervision, Validation, Writing – review & editing

  Affiliation Institute of Genomic Medicine, Università Cattolica del Sacro Cuore Fondazione, Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy

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• Marika Pane,

  Roles Conceptualization, Data curation, Investigation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy

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•  [ ... ],
• Eugenio Mercuri

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing

  * E-mail: eugeniomaria.mercuri@unicatt.it

  Affiliations Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy, Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy

  http://orcid.org/0000-0002-9851-5365

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