"Tolva, Johanna" - Selaus tekijän mukaan TUNICRIS-julkaisut

Viitteet 1-2 / 2

    • Inferring disease course from differential exon usage in the wide titinopathy spectrum 

      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; Savarese, Marco (2024)
      article
      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 ...

    • OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development 

      Oghabian, Ali; Jonson, Per Harald; Gayathri, Swethaa Natraj; Johari, Mridul; Nippala, Ella; Andres, David Gomez; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Hackman, Peter; Savarese, Marco; Udd, Bjarne (2025)
      article
      Background: Highly expressed in skeletal muscles, the gene Obscurin (i.e. OBSCN) has 121 non-overlapping exons and codes for some of the largest known mRNAs in the human genome. Furthermore, it plays an essential role in ...