S. Penttilä

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 · 117 citations

Life Sciences, Genetics, Molecular Genetics +15

Novel mutations in <i>DNAJB6</i> cause <scp>LGMD</scp>1D and distal myopathy in French families

Per Harald Jonson, Johanna Palmio, Mridul Johari et al. · European Journal of Neurology · 2018 · 33 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Late-onset lower motor neuronopathy

Manu Jokela, S. Penttilä, Sanna Huovinen et al. · Neurology · 2011 · 25 citations

Medicine, Genetics, Neurology +17

Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy

Anna Vihola, H. Luque, Marco Savarese et al. · Neuropathology and Applied Neurobiology · 2017 · 23 citations

Life Sciences, Biochemistry, Molecular Biology +17

Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy

Anni Evilä, S. Penttilä, Peter Hackman et al. · Neuromuscular Disorders · 2015 · 11 citations

Life Sciences, Genetics, Molecular Genetics +9