Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, Helena Luque, Sandra Janssens, Maria Barbara PasanisiChiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M. Santorelli, Carlo Minetti, Corrado Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo Pietro Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalJAMA neurology
Volume75
Issue number5
Pages (from-to)557-565
Number of pages9
ISSN2168-6149
DOIs
Publication statusPublished - May 2018
MoE publication typeA1 Journal article-refereed

Fields of Science

  • TIBIAL MUSCULAR-DYSTROPHY
  • C-TERMINAL TITIN
  • TRUNCATING MUTATIONS
  • DISTAL MYOPATHY
  • TTN
  • CARDIOMYOPATHY
  • TITINOPATHY
  • PHENOTYPES
  • SEQUENCE
  • ISOFORM
  • 3112 Neurosciences
  • 3124 Neurology and psychiatry
  • 3111 Biomedicine

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