Per-Harald Jonson

13PUBLICATIONS
73CO-AUTHORS
Cell physiologyNeurology and neuromuscular diseasesMolecular targetsGene mappingMedical infection agents (incl. prions)
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Publications (13)

|Nov 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataract.

Jaakko Sarparanta, Per Harald Jonson, Anna Vihola

|Jun 14, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu

|Jan 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu

|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

|Aug 03, 2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Johanna Ranta-Aho, Kevin J Felice, Per Harald Jonson

|Apr 10, 2024
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.

Huahua Zhong, Veronica Sian, Mridul Johari

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Frequent Collaborators

8 joint publications

Marco Savarese

5 joint publications

Mridul Johari

4 joint publications

Anna Vihola

4 joint publications

Bjarne Udd