Author: ERN-RND

Continue reading “Research article: “Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients””

Continue reading “Research article: “Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia””

Continue reading “Research video: “Criss-cross gait A clue to glucose transporter type 1 deficiency syndrome””

Continue reading “New ERN-RND registry coordinator”

Continue reading “EJP RD open call for Selection of Topics for Research Training Workshops”

Continue reading “Research article: “Huntington’s disease alters human neurodevelopment””

Continue reading “Research article: “Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study””

Continue reading “Research article: “Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders””

Continue reading “European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) –lay summary of the results of this 4-year Consortium study”

Continue reading “ERN-RND September 2020 Newsletter”

Continue reading “Research article: “Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study””

Continue reading “NEW ePAG patient advocate for Huntington’s disease from Bulgaria”

Continue reading “Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)”

Continue reading “Jump for Dystonia competition in September”

Continue reading “David Marsden Award 2021 – open call for submission”

Continue reading “New FTD website by FTD talk team”

Continue reading “SCA & ARCA Global Online Conference 2020 – Abstract submission”

Continue reading “Webinars on Leukodystrophies by ELA Deutschland”

Continue reading “Results of EFNA’s survey on stigma & neurological disorder”