J. Sarparanta

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori et al. · The American Journal of Human Genetics · 2002 · 479 citations · Full text

Developmental Biology, Skeletal Muscle, Genetic Disorder +8

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

Autophagy Regulates the Liver Clock and Glucose Metabolism by Degrading CRY1

Míriam Toledo, Ana Batista‐González, Emilio Merheb et al. · Cell Metabolism · 2018 · 165 citations · Full text

Energy Homeostasis, Mitophagy, Cell Autophagy +15

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

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

Bjarne Udd, Anna Vihola, J. Sarparanta et al. · Neurology · 2005 · 134 citations