"Mauri, Eleonora" - Selaus tekijän mukaan TUNICRIS-julkaisut

Viitteet 1-1 / 1

    • Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 

      Johari, Mridul; Sarparanta, Jaakko; Vihola, Anna; Jonson, Per Harald; Savarese, Marco; Jokela, Manu; Torella, Annalaura; Piluso, Giulio; Said, Edith; Vella, Norbert; Cauchi, Marija; Magot, Armelle; Magri, Francesca; Mauri, Eleonora; Kornblum, Cornelia; Reimann, Jens; Stojkovic, Tanya; Romero, Norma B.; Luque, Helena; Huovinen, Sanna; Lahermo, Päivi; Donner, Kati; Comi, Giacomo Pietro; Nigro, Vincenzo; Hackman, Peter; Udd, Bjarne (2021)
      article
      <p>Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations ...