Inferring disease course from differential exon usage in the wide titinopathy spectrum
Inferring disease course from differential exon usage in the wide titinopathy spectrum
About this item
Full title
Author / Creator
Di Feo, Maria Francesca , Oghabian, Ali , Nippala, Ella , Gautel, Mathias , Jungbluth, Heinz , Forzano, Francesca , Malfatti, Edoardo , Castiglioni, Claudia , Krey, Ilona , Gomez Andres, David , Brady, Angela F. , Iascone, Maria , Cereda, Anna , Pezzani, Lidia , Natera De Benito, Daniel , Nascimiento Osorio, Andres , Estévez Arias, Berta , Kurbatov, Sergei A. , Attie‐Bitach, Tania , Nampoothiri, Sheela , Ryan, Erin , Morrow, Michelle , Gorokhova, Svetlana , Chabrol, Brigitte , Sinisalo, Juha , Tolppanen, Heli , Tolva, Johanna , Munell, Francina , Camacho Soriano, Jessica , Sanchez Duran, Maria Angeles , Johari, Mridul , Tajsharghi, Homa , Hackman, Peter , Udd, Bjarne and Savarese, Marco
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Objective
Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult‐onset limb‐girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis an...
Alternative Titles
Full title
Inferring disease course from differential exon usage in the wide titinopathy spectrum
Authors, Artists and Contributors
Author / Creator
Oghabian, Ali
Nippala, Ella
Gautel, Mathias
Jungbluth, Heinz
Forzano, Francesca
Malfatti, Edoardo
Castiglioni, Claudia
Krey, Ilona
Gomez Andres, David
Brady, Angela F.
Iascone, Maria
Cereda, Anna
Pezzani, Lidia
Natera De Benito, Daniel
Nascimiento Osorio, Andres
Estévez Arias, Berta
Kurbatov, Sergei A.
Attie‐Bitach, Tania
Nampoothiri, Sheela
Ryan, Erin
Morrow, Michelle
Gorokhova, Svetlana
Chabrol, Brigitte
Sinisalo, Juha
Tolppanen, Heli
Tolva, Johanna
Munell, Francina
Camacho Soriano, Jessica
Sanchez Duran, Maria Angeles
Johari, Mridul
Tajsharghi, Homa
Hackman, Peter
Udd, Bjarne
Savarese, Marco
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_56fcca32800d4caeb1e23bc0b7d6e783
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_56fcca32800d4caeb1e23bc0b7d6e783
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.52189
