Jaakko Sarparanta

Helsinki, Finland

Last Updated: 09/26/2026

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Found 25 publications

Fiber type-specific expression of LACTB leverages a function in oxidative metabolism.

Fiber type-specific expression of LACTB leverages a function in oxidative metabolism.

Journal: Histochemistry and cell biology

Published: January 26, 2026

Optimizing 2D in vitro differentiation conditions for C2C12 murine myoblasts on gelatin hydrogel.

Optimizing 2D in vitro differentiation conditions for C2C12 murine myoblasts on gelatin hydrogel.

Journal: Journal of muscle research and cell motility

Published: August 04, 2025

Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Journal: Journal of neurology

Published: July 01, 2025

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.

Journal: Journal of neuromuscular diseases

Published: May 21, 2025

C-terminal extension of HSPB6 in a family with myopathy and cataract.

C-terminal extension of HSPB6 in a family with myopathy and cataract.

Journal: Human molecular genetics

Published: April 25, 2025

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Journal: Annals of clinical and translational neurology

Published: February 25, 2024

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.

Journal: medRxiv : the preprint server for health sciences

Published: January 31, 2024

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

Journal: Human molecular genetics

Published: January 17, 2023

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.

Journal: Journal of neurology

Published: October 15, 2021

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.

Journal: Neurology. Genetics

Published: July 21, 2021

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Journal: Nature genetics

Published: March 29, 2021

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

Journal: Autophagy

Published: February 26, 2021

Showing 1-12 of 25

Last Updated: 09/26/2026