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CORDIS - EU research results
CORDIS

Impact of α-spectrin mutations on the cytoskeleton and organelle organization in neurodegeneration

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Deliverables

Data Management Plan (opens in new window)

The Data Management Plan describes the data management life cycle for all data sets that will be collected, processed or generated by the action. It is a document describing what data will be collected, processed or generated and following what methodology and standards, whether and how this data will be shared and/or made open, and how it will be curated and preserved.

Communication, Dissemination & Exploitation Plan (opens in new window)

The plan describes the planned measures to maximize the impact of the project, including the dissemination and exploitation measures that are planned, and the target group(s) addressed. Regarding communication measures and public engagement strategy, the aim is to inform and reach out to society and show the activities performed, and the use and the benefits the project will have for citizens.

Publications

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy (opens in new window)

Author(s): Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen, Tanya Stojkovic, Peter Hackman, Mridul Johari, Johanna Palmio, Megan A. Waldrop, Alayne P. Meyer, Stefan Nicolau, Kevin M. Flanigan, Ana Töpf, Jordi Diaz-Manera, Volker Straub, Cheryl Longman, Catherine A. McWilliam, Rotem Orbach, Sumit Verma, Regina Laine, Sandra Donkervoort, Carsten G. Bonnemann, Adriana Rebelo, Stephan Züchner, Tiffany Grider, Michael E. Shy, Isabelle Maystadt, Florence Demurger, Anita Cairns, Sarah Beecroft, Chiara Folland, Willem De Ridder, Gina Ravenscroft, Gisèle Bonne, Bjarne Udd, Jonathan Baets
Published in: Genetics in Medicine, Issue 27, 2025, ISSN 1098-3600
Publisher: Elsevier BV
DOI: 10.1016/J.GIM.2025.101399

Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis (opens in new window)

Author(s): Geert M. de Vries, Bob Asselbergh, Alice Monticelli, Peter De Jonghe, Stuart Maudsley, Peter Y. K. Van Den Bergh, Anne Bigot, Jan L. De Bleecker, Biljana Ermanoska, Willem De Ridder, Jonathan Baets
Published in: Journal of Cachexia, Sarcopenia and Muscle, Issue 16, 2025, ISSN 2190-5991
Publisher: Wiley
DOI: 10.1002/JCSM.13845

Nonmuscle myosin II regulates presynaptic actin and neuronal mechanobiology in <i>Drosophila</i> (opens in new window)

Author(s): Biljana Ermanoska, Jonathan Baets, Avital A. Rodal
Published in: Journal of Cell Biology, Issue 224, 2025, ISSN 0021-9525
Publisher: Rockefeller University Press
DOI: 10.1083/JCB.202501211

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