Mitochondrial Diseases

The focus of the working group is to establish the harmonisation of patient care in the member countries by setting up care guidelines and by providing training opportunities. We will make a plan how an optimal mitochondrial disease centres should be structured and what are the essential facilities and stuff personal to run such a centres successfully. If patient referrals will be sent to the electronic database, we will work out the optimal way of work within mitochondrial disease.

 

Name Organisation
Anna Ardissone Fondazione IRCCS, Istituto Neurologico C.Besta
Rafa Artuch Hospital Sant Joan de Déu – Universidad de Barcelona
Luca Bello Azienda Ospedaliera – University of Padova
Gianna Berti Azienda Ospedaliera Universitaria Senese
Enrico Bertini Ospedale Bambino Gesu IRCCS
Giorgia Brigat Istituto Gaslini
Claudio Bruno Istituto Gaslini
Gunnar Buyse University Hospitals Leuven, Neuromuscular Reference Centre
Elena Cardaioli Azienda Ospedaliera Universitaria Senese
Filomena Caria ASST “Spedali Civili”
Brigitte Chabrol AP-HM
Teodora Chamova Expert Centre for Hereditary Neurologic and Metabolic Disorders
Annabelle Chaussenot CHU NICE
Jozsef Janszky University of Pécs
Kristl Claeys University Hospitals Leuven, Neuromuscular Reference Centre
Giacomo Comi Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy)
Stefania Corti Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy)
Stefano Cotti Piccinelli ASST “Spedali Civili”
Boel De Paepe UZ Gent
Liesbeth De Waele University Hospitals Leuven, Neuromuscular Reference Centre
Emma del Rey French Association for Mitochondrial Diseases
Adela Della Marina Childrens Clinic Essen University Hospital (University Hospital Germany)
Daria Diodato Ospedale Bambino Gesu IRCCS
Maria Terersa Dotti Azienda Ospedaliera Universitaria Senese
Martin Engvall Karolinska Universitetssjukhuset (University Hospital Sweden)
Massimiliano Filosto ASST “Spedali Civili”
Benoit Funalot Hôpital Raymond Poincaré, 92380 GARCHES
Serena Gallo Cassarino ASST “Spedali Civili”
Josep Gamez Hospital Universitari Vall d’Hebron
Daniele Ghezzi Fondazione IRCCS, Istituto Neurologico C.Besta
Nathalie Goemans University Hospitals Leuven, Neuromuscular Reference Centre
Granine Gorman Newcastle upon Tyne Hospitals NHS Foundation Trust
Kinga Hadzsiev University of Pécs
Anna Kaminska SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw
Ivan Karin Friedrich-Baur-Institute, Klinikum der LMU Munich
Biruta Kierdaszuk SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw
Thomas Klopstock Friedrich-Baur-Institute, Klinikum der LMU Munich
Thomas Klopstock Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University
Cornelia Kornblum University Hospital of Bonn
Norbert Kovacs University of Pécs
Costanza Lamperti Fondazione IRCCS, Istituto Neurologico C.Besta
Diana Lehmann Universitätsklinikum Ulm (UKU) in cooperation with the Universitäts- und Rehabilitationskliniken Ulm (RKU)
Anna Lusakowska SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw
Ester Maier Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University
Alessandro Malandrini Azienda Ospedaliera Universitaria Senese
Michelangelo Mancuso Azienda Ospedaliera Universitaria Pisana (AOUP)
Robert McFarland Newcastle upon Tyne Hospitals NHS Foundation Trust
Bela Melegh University of Pécs
Mariarosa Anna Beatrice Melone University Hospital ” Luigi Vanvitelli”
Maria Judit Molnar Semmelweis University
Tiziana Mongini Azienda Ospedaliera Universitaria Città della Salute edella Scienza di Torino
Vincenzo Montano Azienda Ospedaliera Universitaria Pisana (AOUP)
Francina Munell Hospital Universitari Vall d’Hebron
Olimpia Musumeci AOU Policlinico “G.Martino” Messina
Karin Naess Karolinska Universitetssjukhuset (University Hospital Sweden)
Damjan Osredkar University Medical Center Ljubljana
Endre Pál University of Pécs
Veronique Paquis CHU NICE
Francisco Javier Pérez-Mínguez Fundación Ana Carolina Díez Mahou
Lorenzo Peverelli Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy)
Zoltan Pfund University of Pécs
Gauthier Remiche Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles
Marlene Rio Hôpital Raymond Poincaré, 92380 GARCHES
Angela Rosenbohm Universitätsklinikum Ulm (UKU) in cooperation with the Universitäts- und Rehabilitationskliniken Ulm (RKU)
Sabrina Sacconi CHU NICE
Emmanuelle Salort-Campana AP-HM
Maria Salvado Hospital Universitari Vall d’Hebron
Piero Santantonio
Andy Schaefer Newcastle upon Tyne Hospitals NHS Foundation Trust
Ulrike Schara Childrens Clinic Essen University Hospital (University Hospital Germany)
Monica Sciacco Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy)
Serenella Servidei Fondazione Policlinico Universitario A. Gemelli
Bert Smeets Maastricht UMC+
Kalliopi Sofou Sahlgrenska University Hospital (University Hospital Sweden)
Göran Solders Karolinska Universitetssjukhuset (University Hospital Sweden)
Robert W Taylor Newcastle upon Tyne Hospitals NHS Foundation Trust
Agnes Till University of Pécs
Valeria Tiranti Fondazione IRCCS, Istituto Neurologico C.Besta
Doug Turnbull Newcastle upon Tyne Hospitals NHS Foundation Trust
Rudy Van Coster UZ Gent
Philip Van Damme University Hospitals Leuven, Neuromuscular Reference Centre
Anneke van der Kooi AMC Amsterdam
Liliana Vercelli Azienda Ospedaliera Universitaria Città della Salute edella Scienza di Torino
Luisa Villa CHU NICE
Ekkehard Wilichowski University Medical Center Goettingen
Judith Zima University of Pécs

Guidelines recommended by the Mitochondrial Diseases Working Group group


Revisiting mitochondrial diagnostic criteria in the new era of genomics

Genetics in Medicine – October, 2017


Patient Care Standards for Primary Mitochondrial Disease: A Consensus Statement from the Mitochondrial Medicine Society

Genetics in Medicine – July, 2017


Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults

Neuromuscular Disorders – December, 2017


Common data elements for clinical research in mitochondrial disease

Journal of Inherited Metabolic Disease – May, 2017


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EU Commission


“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern