"Udd, Bjarne" - Selaus tekijän mukaan TUNICRIS-julkaisut

Viitteet 21-30 / 30

    • Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia 

      Periviita, Vesa; Männikkö, Roope; Jokela, Manu; Sud, Richa; Hanna, Michael G.; Udd, Bjarne; Palmio, Johanna (05 / 2025)
      article
      Background: This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. Methods: Ten patients from seven families underwent clinical, neurophysiological, ...

    • 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 ...

    • Optimizing 2D in vitro differentiation conditions for C2C12 murine myoblasts on gelatin hydrogel 

      Sian, Veronica; Jonson, Per Harald; Vainio, Anna; Luque, Helena; Gayathri, Swethaa Natraj; Hackman, Peter; Udd, Bjarne; Savarese, Marco; Sarparanta, Jaakko (09.10.2025)
      article
      Optimizing in vitro differentiation protocols for skeletal muscle cells is essential for producing mature, functional myotubes suitable for disease modeling and therapeutic screening. While C2C12 murine myoblasts are a ...

    • Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness 

      Savarese, Marco; Vihola, Anna; Jokela, Manu E.; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne (10 / 2021)
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    • Panorama of the distal myopathies 

      Savarese, Marco; Sarparanta, Jaakko; Vihola, Anna; Jonson, Per Harald; Johari, Mridul; Rusanen, Salla; Hackman, Peter; Udd, Bjarne (2020)
      article
      Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of muscle weakness (upper versus lower ...

    • Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation 

      Ranta-aho, Johanna; Felice, Kevin J.; Jonson, Per Harald; Sarparanta, Jaakko; Yvorel, Cédric; Harzallah, Ines; Touraine, Renaud; Pais, Lynn; Austin-Tse, Christina A.; Ganesh, Vijay S.; O'Leary, Melanie C.; Rehm, Heidi L.; Hehir, Michael K.; Subramony, Sub; Wu, Qian; Udd, Bjarne; Savarese, Marco (2024)
      article
      Objective: The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers ...

    • A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy 

      Lehtokari, Vilma Lotta; Sagath, Lydia; Davis, Mark; Ho, Desiree; Kiiski, Kirsi; Kettunen, Kaisa; Demczko, Matthew; Stein, Riki; Vatta, Matteo; Winder, Thomas L.; Shohet, Adi; Orenstein, Naama; Krcho, Peter; Bohuš, Peter; Huovinen, Sanna; Udd, Bjarne; Pelin, Katarina; Laing, Nigel G.; Wallgren-Pettersson, Carina (01 / 2023)
      article
      We describe three patients with asymmetric congenital myopathy without definite nemaline bodies and one patient with severe nemaline myopathy. In all four patients, the phenotype had been caused by pathogenic missense ...

    • A retrospective study of accuracy and usefulness of electrophysiological exercise tests 

      Periviita, Vesa; Jokela, Manu; Palmio, Johanna; Udd, Bjarne (04 / 2023)
      article
      OBJECTIVES: This study aimed to determine the usefulness of electrophysiological exercise tests. The significance of slightly abnormal exercise tests was also examined.METHODS: We identified all the patients who had undergone ...

    • Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions 

      Zhong, Huahua; Sian, Veronica; Johari, Mridul; Katayama, Shintaro; Oghabian, Ali; Jonson, Per Harald; Hackman, Peter; Savarese, Marco; Udd, Bjarne (2024)
      article
      Myopathy refers to a large group of heterogeneous, rare muscle diseases. Bulk RNA-sequencing has been utilized for the diagnosis and research of these diseases for many years. However, the existing valuable sequencing data ...

    • A Titin Truncating Variant Causing a Dominant Myopathy with Cardiac Involvement in a Large Family: The Exception That Proves the Rule 

      Claeys, Kristl G.; Savarese, Marco; Jonson, Per Harald; Goosens, Veerle; Topf, Ana; Vihola, Anna; Straub, Volker; Udd, Bjarne (12.08.2024)
      article
      Titin truncating variants (TTNtvs) have been repeatedly reported as causative of recessive but not dominant skeletal muscle disorders.ObjectiveTo determine whether a single heterozygous nonsense variant in TTN can be ...