Manu Jokela

7PUBLICATIONS
73CO-AUTHORS
Neurology and neuromuscular diseasesStructural properties of condensed matterCancer geneticsExercise physiologyAnimal growth and development
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Publications (7)

|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 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Milla Laarne, Manu Jokela, Fang Zhao

|Apr 08, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

|Dec 06, 2023
A retrospective study of accuracy and usefulness of electrophysiological exercise tests.

Vesa Periviita, Manu Jokela, Johanna Palmio

|Apr 10, 2019
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.

Manu Jokela, Sara Lehtinen, Johanna Palmio

|Mar 08, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Manu Jokela, Giorgio Tasca, Anna Vihola

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Frequent Collaborators

3 joint publications

Bjarne Udd

2 joint publications

Anna Vihola

2 joint publications

Mridul Johari

2 joint publications

Johanna Palmio