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Johanna Ranta-Aho

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Current Opinion in Neurology|July 17, 2024
Current advance on distal myopathy geneticsJohanna Ranta-Aho, Mridul Johari, Bjarne Udd
Human Mutation|September 18, 2022
Mutation update for the ACTN2 geneJohanna Ranta-Aho, Montse Olive, Marie Vandroux, et al.
Annals of Clinical and Translational Neurology|August 3, 2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
Neuromuscular Disorders : NMD|November 13, 2025
Novel missense variants associated with GNE myopathyJohanna Ranta-Aho, Viviana Cetrangolo, Luca Bello, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Rare <i>ACTN2</i> Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein AggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Current Opinion in Neurology|July 17, 2024
Current advance on distal myopathy geneticsJohanna Ranta-Aho, Mridul Johari, Bjarne Udd
Human Mutation|September 18, 2022
Mutation update for the ACTN2 geneJohanna Ranta-Aho, Montse Olive, Marie Vandroux, et al.
Annals of Clinical and Translational Neurology|August 3, 2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
Neuromuscular Disorders : NMD|November 13, 2025
Novel missense variants associated with GNE myopathyJohanna Ranta-Aho, Viviana Cetrangolo, Luca Bello, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Rare <i>ACTN2</i> Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein AggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
Pageof 1