Author: ERN-RND

Continue reading “Review article: “Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies””

Continue reading “Research article: “Biallelic PI4KA variants cause neurological, intestinal and immunological disease””

Continue reading “Research article: “Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy””

Continue reading “New interview available – meet Nicole Wolf from Emma Children’s Hospital/Amsterdam University Medical Centers, the Netherlands”

Continue reading “EURORDIS Black Pearl Awards – nominations open”

Continue reading “Solve-RD experts team up to share and analyse data from unsolved rare disease patients”

Continue reading “Share your reason for Europe to take action on rare diseases!”

Continue reading ““Quality assurance, variant interpretation and data management in the NGS diagnostics era” training”

Continue reading “International Summer School on Rare Disease Registries and FAIRification of Data”

Continue reading “A first trial of Guanabenz in Vanishing White Matter”

Continue reading “The Value of Treatment for Brain Disorders: Case Studies on Rare Diseases & Mental Disorders present findings at  Synthesis Meeting”

Continue reading “ERN-RND webinar on “MRI pattern recognition in leukodystrophies” – MRI upload by participants”

Continue reading “CPMS tutorial video for ERN-RND clinicians now available”

Continue reading “Research article: “Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3””

Continue reading “OneNeurology Global Advocacy Workshop 2021”

Continue reading “EJP RD Workshop: Clinical Research with databases: The Basics & Beyond Workshop in clinical epidemiological research for ERNs”

Continue reading “Research article: “A de novo STUB1 variant associated with an early adult‑onset multisystemic ataxia phenotype””

Continue reading “ERN-RND webinar “MR Biomarkers in Spinocerebellar Ataxias” – recording available”

Continue reading “ERN-RND  webinar “Challenges in Frontotemporal Dementia: clinical, genetic and pathological heterogeneity” – recording available”

Continue reading “‘Meet the members’ – interview with Sylvia Boesch, University Hospital Innsbruck, Austria”