Sini Penttilä

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

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie S. Tay, Peter Hackman et al. · The American Journal of Human Genetics · 2011 · 147 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16

Mutations in <i>HSPB8</i> causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer et al. · Neurology · 2015 · 135 citations · Full text

Medicine, Genetics, Neurology +17

Late onset spinal motor neuronopathy is caused by mutation in <scp><i>CHCHD</i></scp><i>10</i>

Sini Penttilä, Manu Jokela, Heidi Bouquin et al. · Annals of Neurology · 2014 · 120 citations

Life Sciences, Genetics, Neurology +17

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Youjin Lee, Per Harald Jonson, J. Sarparanta et al. · Journal of Clinical Investigation · 2018 · 109 citations · Full text

Life Sciences, Genetics, Neuroscience +17