280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024

Authors:

Michelangelo Mancuso 1 , Piervito Lopriore 2 , Luisa Semmler 3 , Cornelia Kornblum 4 ; 280th ENMC workshop study group
Collaborators, Affiliations collapse
Collaborators

280th ENMC workshop study group: Rafael Artuch 5 , Marcello Bellusci 6 , Enrico Bertini 7 , Valerio Carelli 8 , Felix Distelmaier 9 , Michio Hirano 10 , Rita Horvath 11 , Mirian Ch Janssen 12 , Amel Karaa 13 , Thomas Klopstock 14 , Cornelia Kornblum 15 , Costanza Lamperti 16 , Piervito Lopriore 17 , Robert McFarland 18 , Yi Shiau Ng 18 , Michelangelo Mancuso 17 , Holger Prokisch 19 , Shamima Rahman 20 , Manuel Schiff 21 , Luisa Semmler 3 , Servidei Serenella 22 , Tanja Taivassalo 23 , John Vissing 24 , Jelle van den Ameele 11 , Katie Waller 25
Affiliations

1 Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy. Electronic address: michelangelo.mancuso@unipi.it.
2 Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy; PhD School in Translational Medicine, Scuola Superiore Sant’Anna, Pisa, Italy.
3 Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
4 Department of Neuromuscular Diseases, Center for Neurology, University Hospital Bonn, Germany.
5 Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III and Hospital Sant Joan de Déu, Barcelona, Spain.
6 Reference Center for Inherited Metabolic Disorders MetabERN, Mitochondrial Disorders Research Group (imas12), ’12 de Octubre’ University Hospital, Madrid, Spain.
7 Bambino Gesù Hospital IRCCS, Rome, Italy.
8 IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital and Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; Patrick Chinnery, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
9 University Children’s Hospital, Düsseldorf, Germany.
10 Columbia University Irving Medical Center, New York, USA.
11 Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
12 Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
13 Mass General Hospital/Harvard Medical School, Boston USA.
14 Department of Neurology, Friedrich-Baur-Institute, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
15 Department of Neuromuscular Diseases, Center for NeurologyUniversity Hospital Bonn, Bonn, Germany.
16 Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
17 University of Pisa, Italy.
18 Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
19 School of Medicine, Technical University of Munich, Munich, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Munich, Munich, Germany; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany.
20 UCL Great Ormond Street Institute of Child Health, London, UK.
21 Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Cité, MetabERN, Paris; 22INSERM UMRS_1163, Imagine Institute, Paris, France.
22 Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.
23 Department of Physiology and Aging, Clinical Translational Research Building, University of Florida, 2004 Mowry Road, Gainesville, FL, USA.
24 Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
25 Lily Foundation, UK.