Neuromuscular Junction Defects

Neuromuscular Junction Working Group – Myasthenia Gravis (MG) and Congenital Myasthenic Syndromes (CMS)

Existing guidelines have been collected for MG (Europe, US, UK, Germany, Italy, France) and a gap analysis was carried out. There are few if any guidelines for paediatric MG and for CMS. In addition, the need to provide guidelines and standardization for antibody testing in MG was highlighted and will be addressed separately. An ENMC workshop for guidelines in paediatric CMS will be convened in early 2019. Further topics of interest to the group are standardization of serological diagnosis in MG, gene discovery and diagnosis in CMS, data sharing, electrophysiology and imaging. Patients with CMS/MG should get access to clinical research including registries, biobanks, natural history studies and clinical trials.

 

Name Organisation
Angela Abicht Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University
Shahram Attarian AP-HM
Christine Barnerias Hôpital Raymond Poincaré, 92380 GARCHES
Luis Bataller Hospital Universitario y Politécnico La Fe
Carla Battisti Azienda Ospedaliera Universitaria Senese
Gunnar Buyse University Hospitals Leuven, Neuromuscular Reference Centre
Kristl Claeys University Hospitals Leuven, Neuromuscular Reference Centre
Giacomo Comi Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy)
Pedro Rodriguez Cuz Oxford University Hospitals NHS Foundation Trust
Jan De Bleecker UZ Gent
Anna De Rosa Azienda Ospedaliera Universitaria Pisana (AOUP)
Liesbeth De Waele University Hospitals Leuven, Neuromuscular Reference Centre
Nicolas Deconinck Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles
Della Marina Childrens Clinic Essen University Hospital (University Hospital Germany)
Maria Terersa Dotti Azienda Ospedaliera Universitaria Senese
Emmeline Lagrange Rhône Alpes neuromuscular center
Teresinha Evangelista Newcastle upon Tyne Hospitals NHS Foundation Trust
Amelia Evoli Fondazione Policlinico Universitario A. Gemelli
Bruno Ferrero Azienda Ospedaliera Universitaria Città della Salute edella Scienza di Torino
Massimiliano Filosto ASST “Spedali Civili”
Marguerite Friconneau AFM-Téléthon
Petra Fuchsová Faculty Hospital Motol, Prague
Josep Gamez Hospital Universitari Vall d’Hebron
Fabio Giannini Azienda Ospedaliera Universitaria Senese
Federica Ginanneschi Azienda Ospedaliera Universitaria Senese
Nathalie Goemans University Hospitals Leuven, Neuromuscular Reference Centre
Melania Guida Azienda Ospedaliera Universitaria Pisana (AOUP)
Agnes Herczegfalvi Semmelweis University
Isabel Illa Sendra Hosipital de la Santa Creu i Sant Pau
Anna Kostera-Pruszczyk SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw
Pascal Laforet Hôpital Raymond Poincaré, 92380 GARCHES
Diana Lehmann Universitätsklinikum Ulm (UKU) in cooperation with the Universitäts- und Rehabilitationskliniken Ulm (RKU)
Isabel Leite Oxford University Hospitals NHS Foundation Trust
Marta Lipowska SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw
Ivan Litvinenko Expert Centre for Hereditary Neurologic and Metabolic Disorders
Albert C Ludolph Universitätsklinikum Ulm (UKU) in cooperation with the Universitäts- und Rehabilitationskliniken Ulm (RKU)
Michelangelo Maestri Azienda Ospedaliera Universitaria Pisana (AOUP)
Magda Horakova University Hospital Brno
Marion Main Great Ormond Street Hospital
Alessandro Malandrini Azienda Ospedaliera Universitaria Senese
Renato Mantegazza Fondazione IRCCS, Istituto Neurologico C.Besta
Nicolas Mavroudakis Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles
Tiziana Mongini Azienda Ospedaliera Universitaria Città della Salute edella Scienza di Torino
Wolfgang Müller-Felber Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University
Francina Munell Faculty Hospital Motol, Prague
Pinki Munot Great Ormond Street Hospital
Andrés Nascimento Hospital Sant Joan de Déu – Universidad de Barcelona
Daniel Natera Hospital Sant Joan de Déu – Universidad de Barcelona
Lorenzo Peverelli Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy)
Matthew Pitt Great Ormond Street Hospital
Anna Potulska-Chromik SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw
Angela Puma CHU NICE
Hayley Ramjattan Oxford University Hospitals NHS Foundation Trust
Gauthier Remiche Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles
Roberta Ricciardi Azienda Ospedaliera Universitaria Pisana (AOUP)
Stephanie Robb Great Ormond Street Hospital
Carmelo Rodolico AOU Policlinico “G.Martino” Messina
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 Faculty Hospital Motol, Prague
Ulrike Schara Childrens Clinic Essen University Hospital (University Hospital Germany)
Beate Schlotter-Weigel Friedrich-Baur-Institute, Klinikum der LMU Munich
Jens Schmidt University Medical Center Goettingen
Benedikt Schoser Friedrich-Baur-Institute, Klinikum der LMU Munich
Monica Sciacco Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy)
Claudio Semplicini Azienda Ospedaliera – University of Padova
Jan Senderek Friedrich-Baur-Institute, Klinikum der LMU Munich
Francesco Sicurelli Azienda Ospedaliera Universitaria Senese
Stanislav Vohanka University Hospital Brno
Piotr Szczudlik SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw
Gioacchino Tedeschi University Hospital ” Luigi Vanvitelli”
Vincenzo Todisco University Hospital “Luigi Vanvitelli”
Ivailo Tournev Expert Centre for Hereditary Neurologic and Metabolic Disorders
Rudy Van Coster UZ Gent
Philip Van Damme University Hospitals Leuven, Neuromuscular Reference Centre
Anneke van der Kooi AMC Amsterdam
Juan J Vílchez Hospital Universitario y Politécnico La Fe
Luisa Villa CHU NICE
Irene Volonghi ASST “Spedali Civili”
Daniela Botikova University Hospital Brno

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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).
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