"Nigro, Vincenzo" - Selaus tekijän mukaan TUNICRIS-julkaisut

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    • 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 ...

    • 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)
      article