PostersMolecular diagnosis of spinal muscular atrophy with lower extremity predominance by NGS analysisNov 2017 Michela Catteruccia EURO-NMD 1st Annual Meeting – Freiburg, Germany See the publication
PostersMitochondrial diseases : Transition from childhood into adulthood, a model of careNov 2017 Costanza Lamperti EURO-NMD 1st Annual Meeting – Freiburg, Germany See the publication
PostersPatient Advisory Board : The Voice of Patients with Rare Neuromuscular DiseasesNov 2017 Francois Lamy EURO-NMD 1st Annual Meeting – Freiburg, Germany See the publication
PostersConsortium (NeMusChALS), an integrated highly specialized and collaborative structure for clinical expertise, care and translational research for neuromuscular diseases from childhood to adulthood.Nov 2017 B Eymard EURO-NMD 1st Annual Meeting – Freiburg, Germany See the publication
PostersInternational-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to identify Dystrophin mutations by NGS technologies in patients throughout European countriesNov 2017 Fernanda Fortunato EURO-NMD 1st Annual Meeting – Freiburg, Germany See the publication
PostersE-Health and Innovation to overcome barriers in neuromuscular diseasesNov 2017 Sabrina Sacconi EURO-NMD 1st Annual Meeting – Freiburg, Germany See the publication
PostersStandardized analysis and sharing of genome-phenome data for neuromuscular and rare disease research through the RD-Connect platformNov 2017 Hanns Lochmüller EURO-NMD 1st Annual Meeting – Freiburg, Germany See the publication
PostersThe MYO-SEQ project: application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown originNov 2017 Katherine Johnson EURO-NMD 1st Annual Meeting – Freiburg, Germany See the publication
