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2017 Posters

Consortium (NeMusChALS), an integrated highly specialized and collaborative structure for clinical expertise, care and translational research for neuromuscular diseases from childhood to adulthood.


E-Health and Innovation to overcome barriers in neuromuscular diseases


European Reference Network for rare Neuromuscular Diseases: EURO-NMD


How has RD-ACTION supported the conceptualisation and implementation of European Reference Networks?


International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to identify Dystrophin mutations by NGS technologies in patients throughout European countries


Introduction of ERN NMD Centre in Prague, Czech Republic


Mitochondrial diseases : Transition from childhood into adulthood, a model of care


Molecular diagnosis of spinal muscular atrophy with lower extremity predominance by NGS analysis


Motor Neuron Diseases at the UMC of Utrecht


Neurological and Neuropathological Alterations in Nerve and Muscle Tissue in Nesprinopathies


Patient Advisory Board : The Voice of Patients with Rare Neuromuscular Diseases


Rare Commons: an innovative social media platform 2.0 for collaborative clinical research on pediatric rare diseases


Rare neuromuscular disease patient registries – key to diagnosis and novel therapies


Standardized analysis and sharing of genome-phenome data for neuromuscular and rare disease research through the RD-Connect platform


The contribution of Erasmus MC University Medical Center to the field of neuromuscular disorders.


The development of a mobile app for patients with Pompe disease and its possible clinical applications


The MYO-SEQ project: application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin


TREAT-NMD: Advancing Diagnosis, Treatment and Care in Neuromuscular Rare Diseases


Contact us

ERN EURO-NMD coordination
Institut de Myologie
GH Pitié-Salpêtrière
47-83, Bd de l’Hôpital
75013 Paris
France

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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“


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