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