Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Author:

Savarese Marco123,Maggi Lorenzo4,Vihola Anna1,Jonson Per Harald1,Tasca Giorgio5,Ruggiero Lucia6,Bello Luca7,Magri Francesca8,Giugliano Teresa23,Torella Annalaura23,Evilä Anni1,Di Fruscio Giuseppina23,Vanakker Olivier9,Gibertini Sara4,Vercelli Liliana10,Ruggieri Alessandra4,Antozzi Carlo4,Luque Helena1,Janssens Sandra9,Pasanisi Maria Barbara4,Fiorillo Chiara11,Raimondi Monika12,Ergoli Manuela13,Politano Luisa13,Bruno Claudio14,Rubegni Anna15,Pane Marika16,Santorelli Filippo M.15,Minetti Carlo11,Angelini Corrado17,De Bleecker Jan18,Moggio Maurizio19,Mongini Tiziana10,Comi Giacomo Pietro8,Santoro Lucio6,Mercuri Eugenio16,Pegoraro Elena7,Mora Marina4,Hackman Peter1,Udd Bjarne120,Nigro Vincenzo23

Affiliation:

1. Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland

2. Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania “Luigi Vanvitelli,” Napoli, Italy

3. Telethon Institute of Genetics and Medicine, Pozzuoli, Italy

4. Neuromuscular Diseases and Neuroimmunology Unit, Institute for Research and Health Care Foundation Neurological Institute C. Besta, Milan, Italy

5. Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario “A. Gemelli,” Rome, Italy

6. Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche, Università degli Studi di Napoli “Federico II,” Napoli, Italy

7. Neuromuscular Center, Dipartimento di Neuroscienze, Università di Padova, Padova, Italy

8. Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Università degli Studi di Milano, Fondazione Institute for Research and Health Care Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy

9. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

10. Neuromuscular Unit, Department of Neurosciences, Rita Levi Montalcini, University of Torino, Torino, Italy

11. Pediatric Neurology and Neuromuscular Disorders Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health; University of Genoa, Istituto G. Gaslini, Genova, Italy

12. Clinica Moncucco, Lugano, Switzerland

13. Dipartimento di Medicina Sperimentale, Cardiomiologia e Genetica Medica, Università degli Studi della Campania “Luigi Vanvitelli,” Napoli, Italy

14. Center of Myology and Neurodegenerative Disease, Istituto Giannina Gaslini, Genova, Italy

15. Medicina Molecolare, Institute for Research and Health Care Fondazione Stella Maris, Pisa, Italy

16. Department of Pediatric Neurology, Catholic University and Nemo Roma Center for Neuromuscular Disorders, Rome, Italy

17. Fondazione Hospital S.Camillo Institute for Research and Health Care, Venezia, Italy

18. Department of Neurology, Ghent University Hospital, Ghent, Belgium

19. Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze, Università degli Studi di Milano, Fondazione Institute for Research and Health Care Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy

20. Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland

Publisher

American Medical Association (AMA)

Subject

Neurology (clinical)

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