Sara Lehtinen

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 · 272 citations

Genome Instability, Skeletal Muscle, Genetics +7

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

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Anni Evilä, Johanna Palmio, Anna Vihola et al. · Molecular Neurobiology · 2016 · 49 citations · Full text

Genetic Disorder, Genetics, Pathology +4

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

Marco Savarese, Mridul Johari, Katherine Johnson et al. · Journal of Neuromuscular Diseases · 2020 · 25 citations

An unusual ryanodine receptor 1 (RYR1) phenotype

Manu Jokela, Giorgio Tasca, Anna Vihola et al. · Neurology · 2019 · 21 citations · Full text