No deal Brexit could have detrimental impact for four million people in UK living with a rare disease Continue reading “No deal Brexit could have detrimental impact for four million people in UK living with a rare disease”
EURORDIS Black Pearl Awards 2021 – Submit your photo Continue reading “EURORDIS Black Pearl Awards 2021 – Submit your photo”
Research article: “Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology” Continue reading “Research article: “Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology””
Review article: “A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders” Continue reading “Review article: “A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders””
Manifesto for a European Health Union – please SIGN Continue reading “Manifesto for a European Health Union – please SIGN”
Research article: “A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype” Continue reading “Research article: “A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype””
Research article: “Diagnostic approach to paediatric movement disorders” Continue reading “Research article: “Diagnostic approach to paediatric movement disorders””
New research article: “Low-frequency oscillation suppression in dystonia: Implications for adaptive deep brain stimulation” Continue reading “New research article: “Low-frequency oscillation suppression in dystonia: Implications for adaptive deep brain stimulation””
Research article: “Myoclonus‐Ataxia syndromes: a diagnostic approach” Continue reading “Research article: “Myoclonus‐Ataxia syndromes: a diagnostic approach””
EJP RD Fellowship experience in Tübingen, Germany Continue reading “EJP RD Fellowship experience in Tübingen, Germany”
Research article: “Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3” Continue reading “Research article: “Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3””
ERN animation clip subtitled and dubbed in EU languages Continue reading “ERN animation clip subtitled and dubbed in EU languages”
Research article: “Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy” Continue reading “Research article: “Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy””
EJP RD open call for Research Mobility Fellowships Continue reading “EJP RD open call for Research Mobility Fellowships”
Research article: “Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases” Continue reading “Research article: “Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases””
Research article: “Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients” Continue reading “Research article: “Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients””
Research article: “Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia” Continue reading “Research article: “Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia””
Research video: “Criss-cross gait A clue to glucose transporter type 1 deficiency syndrome” Continue reading “Research video: “Criss-cross gait A clue to glucose transporter type 1 deficiency syndrome””
EJP RD open call for Selection of Topics for Research Training Workshops Continue reading “EJP RD open call for Selection of Topics for Research Training Workshops”
Research article: “Huntington’s disease alters human neurodevelopment” Continue reading “Research article: “Huntington’s disease alters human neurodevelopment””
Research article: “Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study” Continue reading “Research article: “Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study””
Research article: “Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders” Continue reading “Research article: “Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders””
European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) –lay summary of the results of this 4-year Consortium study Continue reading “European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) –lay summary of the results of this 4-year Consortium study”