News – ERN-RND | European Reference Network on Rare Neurological Diseases

Publication: “Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy”

Continue reading “Publication: “Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy””

Publication from the European Metachromatic Leukodystrophy initiative (MLDi)

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Publication: “Therapy Trial Design in Vanishing White Matter – An Expert Consortium Opinion”

Continue reading “Publication: “Therapy Trial Design in Vanishing White Matter – An Expert Consortium Opinion””

United Nations adopts Resolution on persons with rare diseases

Continue reading “United Nations adopts Resolution on persons with rare diseases”

33 new ERN-RND members!

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EURORDIS Photo Award

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New CPMS helpdesk

Continue reading “New CPMS helpdesk”

Editorial: Networks in Movement Disorders. To Move or Not to Move

Continue reading “Editorial: Networks in Movement Disorders. To Move or Not to Move”

Publication: “Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives”

Continue reading “Publication: “Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives””

Available from EJP RD: MOOC Diagnosing Rare Diseases: from the Clinic to Research and back

Continue reading “Available from EJP RD: MOOC Diagnosing Rare Diseases: from the Clinic to Research and back”

New EJP RD training: “Pluripotent stem cells for rare disease research: banking, data, application”

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Launch of the ERN Research Training Workshops funding opportunity

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

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

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

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

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

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

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

EURORDIS Black Pearl Awards – nominations open

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

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

Share your reason for Europe to take action on rare diseases!

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

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International Summer School on Rare Disease Registries and FAIRification of Data

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A first trial of Guanabenz in Vanishing White Matter

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

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

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

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

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

CPMS tutorial video for ERN-RND clinicians now available

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

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

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

OneNeurology Global Advocacy Workshop 2021

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

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

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

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

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

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