Satu Sandell

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio et al. · Nature Genetics · 2012 · 276 citations

Medicine, Genetics, Molecular Biology +7

Atypical phenotypes in titinopathies explained by second titin mutations

Anni Evilä, Anna Vihola, J. Sarparanta et al. · Annals of Neurology · 2014 · 94 citations

Life Sciences, Genetics, Molecular Genetics +16

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Johanna Palmio, Satu Sandell, Tiina Suominen et al. · Neuromuscular Disorders · 2011 · 67 citations

Life Sciences, Genetics, Molecular Genetics +7

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Satu Sandell, Sanna Huovinen, Johanna Palmio et al. · Acta Neuropathologica Communications · 2016 · 50 citations · Full text

Medicine, Genetics, Pathology +15

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

Johanna Palmio, Per Harald Jonson, Anni Evilä et al. · Neuromuscular Disorders · 2015 · 46 citations · Full text

Medicine, Genetics, Molecular Genetics +12