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.

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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

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article

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8

Alessandro Prigione, Gian Nicola Gallus, Rebecca D. Ganetzky, Anna Ardissone et al.
11 citations
Neurology
Mitochondrial Function and Pathology
8.87
article

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8

Alessandro Prigione, Gian Nicola Gallus, Rebecca D. Ganetzky, Anna Ardissone, Diego Martinelli, Thomas Klopstock, Alessandro Malandrini, Pablo Serrano‐Lorenzo, Caterina Garone, Guido Primiano, Chiara La Morgia, Cristina Domínguez‐González, Markus Schuelke, Michelangelo Mancuso, Sara Carli, Enrico Bertini, Boriana Büchner, Valério Carelli, Daria Diodato, Diego Lopergolo, Miguel A. Martı́n, Li Zeng, Costanza Lamperti, Valeria Nicoletta, Anna Levarlet
article en
11 citations

Abstract

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.

NeurologyVol. 104(7)
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)
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
Zero hunger
Openalex Percentile: Top 2%
Mitochondrial Function and Pathology
8.87
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