• Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D 

      Sandell, Satu; Huovinen, Sanna; Palmio, Johanna; Raheem, Olayinka; Lindfors, Mikaela; Zhao, Fang; Haapasalo, Hannu; Udd, Bjarne (2016)
      Limb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function ...
    • Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders 

      Jokela, Manu; Huovinen, Sanna; Raheem, Olayinka; Lindfors, Mikaela; Palmio, Johanna; Penttilä, Sini; Udd, Bjarne (2016)
      The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal ...
    • Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy 

      Screen, Mark; Raheem, Olayinka; Holmlund-Hampf, Jeanette; Jonson, Per Harald; Huovinen, Sanna; Hackman, Peter; Udd, Bjarne (2014)
      Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations ...
    • Molecular basis of myotonic disorders and new diagnostic techniques 

      Raheem, Olayinka
      Acta Electronica Universitatis Tamperensis : 1258 (Tampere University Press, 2012)
      Myotoniset sairaudet ovat lihastauteja, joihin liittyy myotoniaa. Myotonia on tila, jossa lihaksen tahdonalaisen supistuksen jälkeinen rentoutuminen viivästyy. Tyypin 1 (DM1) ja tyypin 2 (DM2) myotoniset dystrofiat ovat ...