Interpreting Genetic Variants in Titin in Patients With Muscle Disorders-Reference-Cited by-同舟云学术

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Published:2018-05-01 Issue:5 Volume:75 Page:557
ISSN:2168-6149
Container-title:JAMA Neurology
language:en
Short-container-title:JAMA Neurol

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)

Reference43 articles.

1. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.;Bang;Circ Res,2001

2. Titin, a central mediator for hypertrophic signaling, exercise-induced mechanosignaling and skeletal muscle remodeling.;Krüger;Front Physiol,2016

3. The rapidly evolving role of titin in cardiac physiology and cardiomyopathy.;Gerull;Can J Cardiol,2015

4. A rising titan: TTN review and mutation update.;Chauveau;Hum Mutat,2014

5. Increasing role of titin mutations in neuromuscular disorders.;Savarese;J Neuromuscul Dis,2016

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