Bjarne Udd
14PUBLICATIONS
63CO-AUTHORS
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Publications (14)
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|Feb 17, 2026
Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy.Maria Francesca Di Feo, Giuliana Capece, Marco Savarese
|Nov 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataract.Jaakko Sarparanta, Per Harald Jonson, Anna Vihola
|Mar 05, 2025
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort.Victoria Lillback, Gaber Bergant, Maria Francesca Di Feo
|Jan 14, 2025
<i>TTN</i>-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.Katrin Õunap, Tiia Reimand, Eve Õiglane-Shlik
|Oct 08, 2024
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.Kristl G Claeys, Marco Savarese, Per Harald Jonson
|May 10, 2024
Homozygosity of a Founder Variant c.1508dupC in <i>DOK7</i> Causes Congenital Myasthenia With Variable Severity.Johanna Palmio, Panu Kiviranta, Päivi H Hartikainen
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Frequent Collaborators
9 joint publications
Marco Savarese
4 joint publications
Anna Vihola
4 joint publications
Per-Harald Jonson
3 joint publications
Manu Jokela
3 joint publications
Giorgio Tasca
3 joint publications
Maria Francesca Di Feo
2 joint publications
Salla Välipakka
2 joint publications
Mridul Johari
2 joint publications
Peter Hackman
2 joint publications
Jaakko Sarparanta
