Jaakko Sarparanta
4PUBLICATIONS
46CO-AUTHORS
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Publications (4)
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|Nov 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.Milla Laarne, Manu Jokela, Fang Zhao
|Nov 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataract.Jaakko Sarparanta, Per Harald Jonson, Anna Vihola
|Mar 01, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.Ana Töpf, Dan Cox, Irina T Zaharieva
|Nov 01, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.Peter Hackman, Salla M Rusanen, Mridul Johari
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Frequent Collaborators
3 joint publications
Peter Hackman
3 joint publications
Anna Vihola
3 joint publications
Per Harald Jonson
2 joint publications
Mridul Johari
2 joint publications
Bjarne Udd
1 joint publications
Salla M Rusanen
1 joint publications
Kati Donner
1 joint publications
Ibrahim Mahjneh
1 joint publications
Mari Auranen
1 joint publications
Meharji Arumilli
