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Dear EURO-NMD board representatives, affiliated partners and executive committee members, On behalf of Teresinha Evangelista and the Paris coordination team, it’s a great pleasure to…

Please note that due to unpublished data presented, this webinar was not recorded and it is not possible to watch it on-demand. Thank you for…

Quality assurance, variant interpretation and data management in the NGS diagnostics era The 5th International Training Course on “Quality assurance, variant interpretation and data management…

…TIMESLOT: October 12th 2023 at 16:00 Paris Time …THEME: Treatment of Charcot-Marie-Tooth …PRESENTER: Dr. Davide Pareyson (Fondazione IRCCS, Istituto Neurologico C.Besta, Italy) …BIOSKETCH: Davide Pareyson…

Hypotonia is a frequent clinical manifestation at birth or in early infancy. Some of the conditions causing hypotonia are unfortunately not treatable- but several are.…

…TIMESLOT: October 4th 2023 at 16:00 Paris Time …THEME: Pathomechanisms of Charcot-Marie-Tooth …PRESENTER: Dr. Stefano Carlo Previtali (IRCCS Ospedale San Raffaele, Italy) …BIOSKETCH: Dr. Stefano…

Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) is a rare lysosomal storage disease caused by a deficiency in TPP1 enzyme activity. Lack of disease awareness and…

…THEME: Mitochondrial Myopathies​ …PRESENTER: Prof. Dr. Anders Oldfors (University of Gothenburg and Sahlgrenska University Hospital, Sweden) …BIOSKETCH: Anders Oldfors studied medicine in Gothenburg, Sweden between…

Delivered by Prof Nens van Alfen Nens van Alfen MD PhD is an associate professor of Neurology and clinical neurophysiologist from the Radboud university medical…