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.

 

Below you find the list of experts that take part in the activities of the Mitochondrial Disorders Working Group

First Name Surname Centre Country Email
Anna Ardissone Fondazione IRCCS, Istituto Neurologico C.Besta IT anna.ardissone@istituto-besta.it
Rafa Artuch Hospital Sant Joan de Déu – Universidad de Barcelona SP Rartuch@sjdhospitalbarcelona.org
Luca Bello Azienda Ospedaliera – University of Padova IT luca.bello@unipd.it
Gianna Berti Azienda Ospedaliera Universitaria Senese IT gianna.berti@unisi.it
Enrico Bertini Ospedale Bambino Gesu IRCCS IT enricosilvio.bertini@opbg.net
Stefen Brady Oxford Neuromuscular Centre (Regional Hospital UK) GB Stefen.Brady@ouh.nhs.uk
GIORGIA BRIGATI ISTITUTO GASLINI IT giorgia.brigati@gmail.com
CLAUDIO BRUNO ISTITUTO GASLINI IT claudiobruno@gaslini.org
Gunnar Buyse University Hospitals Leuven, Neuromuscular Reference Centre BE Gunnar.Buyse@uzleuven.be
Elena Cardaioli Azienda Ospedaliera Universitaria Senese IT cardaioli@unisi.it
Brigitte CHABROL AP-HM FR brigitte.chabrol@ap-hm.fr
Teodora Chamova Expert Centre for Hereditary Neurologic and Metabolic Disorders BG teodoratch@abv.bg
Kristl Claeys University Hospitals Leuven, Neuromuscular Reference Centre BE Kristl.Claeys@uzleuven.be
Giacomo Comi Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital ltaly IT giacomo.comi@policlinico.mi.it
Sandra Coppens Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles BE sacoppen@ulb.ac.be
Stefania Corti Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital ltaly IT stefania.corti@unimi.it
Stefano Cotti Piccinelli ASST “Spedali Civili” IT stefanocottipiccinelli@gmail.com
Liesbeth De Waele University Hospitals Leuven, Neuromuscular Reference Centre BE Liesbeth.Dewaele@uzleuven.be
Nicolas Deconinck Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles BE Nicolas.DECONINCK@huderf.be
Emma del Rey emma.delrey31@gmail.com
Adela Della Marina Children’s Clinic Essen University DE adela.dellamarina@uk-essen.de
Daria Diodato Ospedale Bambino Gesu IRCCS IT daria.diodato@opbg.net
Maria Terersa Dotti Azienda Ospedaliera Universitaria Senese IT maria.dotti@unisi.it
Massimiliano Filosto ASST “Spedali Civili” IT massimiliano.filosto@unibs.it
Carl Fratter carl.fratter@ouh.nhs.uk
Benoit FUNALOT Hôpital Raymond Poincaré, 92380 GARCHES FR benoit.funalot@gmail.com
Josep Gamez Hospital Universitari Vall d’Hebron SP josepgamez.bcn@gmail.com
Daniele Ghezzi Fondazione IRCCS, Istituto Neurologico C.Besta IT daniele.ghezzi@istituto-besta.it
Nathalie Goemans University Hospitals Leuven, Neuromuscular Reference Centre BE Nathalie.Goemans@uzleuven.be
Grainne Gorman Newcastle upon Tyne Hospitals NHS Foundation Trust GB grainne.gorman@newcastle.ac.uk
Kinga Hadzsiev University of Pécs HU hadzsiev.kinga@pte.hu
Rita Horvath Cambridge University GB rh732@medschl.cam.ac.uk
Anna Kaminska SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw PL amkaminska@wum.edu.pl
Ivan KARIN Friedrich-Baur-Institute, Klinikum der LMU Munich DE ivan.karin@med.uni-muenchen.de
Biruta Kierdaszuk SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw PL bkierdaszuk@wum.edu.pl
Thomas Klopstock Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University DE thomas.klopstock@med.uni-muenchen.de
Thomas KLOPSTOCK Friedrich-Baur-Institute, Klinikum der LMU Munich DE thomas.klopstock@med.uni-muenchen.de
Samuel Komoly University of Pécs HU komoly.samuel@pte.hu
Cornelia Kornblum University Hospital of Bonn DE cornelia.kornblum@ukbonn.de
Norbert Kovacs University of Pécs HU kovacs.norbert@pte.hu
Ferenc Kover University of Pécs HU kover.ferenc@pte.hu
Costanza Lamperti Fondazione IRCCS, Istituto Neurologico C.Besta IT costanza.lamperti@istituto-besta.it
Anna Lusakowska SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw PL alusakowska@wum.edu.pl
Esther Maier Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University DE esther.maier@med.uni-muenchen.de
Alessandro Malandrini Azienda Ospedaliera Universitaria Senese IT Alessandro.malandrini@unisi.it
Michelangelo Mancuso Azienda Ospedaliera Universitaria Pisana (AOUP) IT mancusomichelangelo@gmail.com
Mattia Marchesi ASST “Spedali Civili” IT m.marchesi008@studenti.unibs.it
Nicolas Mavroudakis Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles BE Nicolas.Mavroudakis@erasme.ulb.ac.be
Robert McFarland Newcastle upon Tyne Hospitals NHS Foundation Trust GB robert.mcfarland@newcastle.ac.uk
Bela Melegh University of Pécs HU melegh.bela@pte.hu
Mariarosa Anna Beatrice Melone University Hospital “Luigi Vanvitelli” IT MariarosaAnnaBeatrice.MELONE@unicampania.it
Maurizio Moggio Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital ltaly IT maurizio.moggio@policlinico.mi.it
Maria Judit Molnar Semmelweis University HU molnarmj@gmail.com
Tiziana Mongini Azienda Ospedaliera Universitaria Città della Salute  edella Scienza di Torino IT tizianaenrica.mongini@unito.it
Francina Munell Hospital Universitari Vall d’Hebron SP francina.munell@vhir.org
Francina Munell Hospital Universitari Vall d’Hebron SP francina.munell@vhir.org
Olimpia Musumeci AOU Policlinico “G.Martino” Messina IT omusumeci@unime.it
Damjan Osredkar University Medical Center Ljubljana SI damjan.osredkar@kclj.si
Endre Pál University of Pécs HU pal.endre@pte.hu
Francisco Javier Pérez-Mínguez javierperezminguez@gmail.com
Zoltan Pfund University of Pécs HU pfund.zoltan@pte.hu
Angela Puma Sabrina Sacconi FR puma.a@chu-nice.fr
Gauthier Remiche Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles BE gauthier.remiche@erasme.ulb.ac.be
Marlene RIO Hôpital Raymond Poincaré, 92380 GARCHES FR marlene.rio@aphp.fr
Angela Rosenbohm Universitätsklinikum Ulm (UKU) in cooperation with the Universitäts- und Rehabilitationskliniken Ulm (RKU) DE angela.rosenbohm@uni-ulm.de
Sabrina Sacconi Sabrina Sacconi FR sacconi.s@chu-nice.fr
Emmanuelle SALORT-CAMPANA AP-HM FR emmanuelle.salort-campana@ap-hm.fr
Maria Salvado Hospital Universitari Vall d’Hebron SP msalvado@gmail.com
Maria Salvado Hospital Universitari Vall d’Hebron SP msalvado@gmail.com
Piero Santantonio p.santantonio@igeam.it
Ulrike Schara Children’s Clinic Essen University DE ulrike.schara@uk-essen.de
Monica Sciacco Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital ltaly IT monica.sciacco@policlinico.mi.it
Serenella Servidei Fondazione Policlinico Universitario A. Gemelli IT serenella.servidei@policlinicogemelli.it
Bert Smeets Maastricht UMC+ the Netherlands bert.smeets@maastrichtuniversity.nl
Valentine Tahon UZ Gent BE valentine.tahon@uzgent.be
Robert W. Taylor Newcastle upon Tyne Hospitals NHS Foundation Trust GB robert.taylor@ncl.ac.uk
Agnes Till University of Pécs HU till.agnes@pte.hu
Valeria Tiranti, Fondazione IRCCS, Istituto Neurologico C.Besta IT valeria.tiranti@istituto-besta.it
Antonio Toscano AOU Policlinico “G.Martino” Messina IT atoscano@unime.it
Doug TurnBGll Newcastle upon Tyne Hospitals NHS Foundation Trust GB doug.turnBGll@newcastle.ac.uk
Philip Van Damme University Hospitals Leuven, Neuromuscular Reference Centre BE Philip.Vandamme@uzleuven.be
Anneke van der Kooi AMC Amsterdam NL a.j.kooi@amc.uva.nl
Arnaud Van Lander UZ Gent BE arnaud.vanlander@ugent.be
Liliana Vercelli Azienda Ospedaliera Universitaria Città della Salute  edella Scienza di Torino IT lilliana.vercelli@unito.it
Luisa villa Sabrina Sacconi FR villa.l@chu-nice.fr
Ekkehard Wilichowski University Medical Center Goettingen DE ewilich@med.uni-goettingen.de

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

Vice-Chair

Rita Horvath

The ERNs are co-funded by the
European Union (Health Programme and CEF)

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“