Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8
Our results define a more accurate classification based on the age at onset for MT-ATPase deficiency and provide fundamental clinical and biochemical data for disease management.
Authors
- Alessandro Prigione (ORCID: https://orcid.org/0000-0001-9457-1952)
- Gian Nicola Gallus (ORCID: https://orcid.org/0000-0001-5801-223X)
- Rebecca D. Ganetzky (ORCID: https://orcid.org/0000-0001-6238-8109)
- Anna Ardissone (ORCID: https://orcid.org/0000-0003-1969-0147)
- Diego Martinelli
- Thomas Klopstock (ORCID: https://orcid.org/0000-0003-2805-4652)
- Alessandro Malandrini (ORCID: https://orcid.org/0000-0003-1034-0845)
- Pablo Serrano‐Lorenzo (ORCID: https://orcid.org/0000-0002-5661-7574)
- Caterina Garone (ORCID: https://orcid.org/0000-0003-4928-1037)
- Guido Primiano (ORCID: https://orcid.org/0000-0001-7616-7008)
- Chiara La Morgia (ORCID: https://orcid.org/0000-0002-4639-8929)
- Cristina Domínguez‐González (ORCID: https://orcid.org/0000-0001-5151-988X)
- Markus Schuelke (ORCID: https://orcid.org/0000-0003-2824-3891)
- Michelangelo Mancuso (ORCID: https://orcid.org/0000-0003-2738-8562)
- Sara Carli (ORCID: https://orcid.org/0000-0001-8130-5364)
- Enrico Bertini (ORCID: https://orcid.org/0000-0001-9276-4590)
- Boriana Büchner
- Valério Carelli (ORCID: https://orcid.org/0000-0003-4923-6404)
- Daria Diodato (ORCID: https://orcid.org/0000-0003-3607-8523)
- Diego Lopergolo (ORCID: https://orcid.org/0000-0003-2256-0482)
- Miguel A. Martı́n (ORCID: https://orcid.org/0000-0003-4741-772X)
- Li Zeng (ORCID: https://orcid.org/0000-0002-9039-6509)
- Costanza Lamperti
- Valeria Nicoletta
- Anna Levarlet
Institutions
- University of Siena (IT)
- University of Pisa (IT)
- Children's Hospital of Philadelphia (US)
- German Center for Neurodegenerative Diseases (DE)
- Agostino Gemelli University Polyclinic (IT)
- Humboldt-Universität zu Berlin (DE)
- Düsseldorf University Hospital (DE)
- Hospital Universitario 12 De Octubre (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Munich Cluster for Systems Neurology (DE)
- Centro de Investigación Biomédica en Red (ES)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Bambino Gesù Children's Hospital (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- Heinrich Heine University Düsseldorf (DE)
- Freie Universität Berlin (DE)
- Charité - Universitätsmedizin Berlin (DE)
- University of Pennsylvania (US)
- Ludwig-Maximilians-Universität München (DE)
- University of Bologna (IT)
Publication Details
- Journal
- Neurology
- Published
- 2025-03-20
- DOI
- https://doi.org/10.1212/wnl.0000000000213462
- Citations
- 11
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 8.87
Funders
- United Mitochondrial Disease Foundation
- European Commission
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Ministerio de Ciencia e Innovación
- HORIZON EUROPE Framework Programme
- Instituto de Salud Carlos III
- European Regional Development Fund