Anni Evilä

Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1

Peter Hackman, J. Sarparanta, Sara Lehtinen et al. · Annals of Neurology · 2012 · 152 citations

Titin mutation segregates with hereditary myopathy with early respiratory failure

Gerald Pfeffer, Hannah R. Elliott, Helen Griffin et al. · Brain · 2012 · 137 citations · Full text

Genetics, Distal Myopathy, Pathology +17

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 · 133 citations · Full text

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by <i>ANO5</i>

S. Penttilä, Johanna Palmio, Tiina Suominen et al. · Neurology · 2012 · 116 citations

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Youjin Lee, Per Harald Jonson, J. Sarparanta et al. · Journal of Clinical Investigation · 2018 · 106 citations · Full text

Genetics, Pathology, Disease Gene Identification +17