Johanna Palmio
4PUBLICATIONS
58CO-AUTHORS
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Publications (4)
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|May 10, 2024
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity.Johanna Palmio, Panu Kiviranta, Päivi H Hartikainen
|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
|Jan 23, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.Johanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi
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Frequent Collaborators
2 joint publications
Manu Jokela
2 joint publications
Bjarne Udd
1 joint publications
Vesa Periviita
1 joint publications
A Reghan Foley
1 joint publications
Véronique Bolduc
1 joint publications
Fady Guirguis
1 joint publications
Sandra Donkervoort
1 joint publications
Rotem Orbach
1 joint publications
Apurva Sarathy
1 joint publications
Gina Norato
