News – Page 5 – ERN-RND | European Reference Network on Rare Neurological Diseases

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””

ERN-RND November 2020 Newsletter

Research article: “Myoclonus‐Ataxia syndromes: a diagnostic approach”

Continue reading “Research article: “Myoclonus‐Ataxia syndromes: a diagnostic approach””

SARA training tool by DZNE

Continue reading “SARA training tool by DZNE”

EPNS Congress 2021 postponed

Continue reading “EPNS Congress 2021 postponed”

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””

New ERN-RND registry coordinator

Continue reading “New ERN-RND registry coordinator”

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”

ERN-RND September 2020 Newsletter

Continue reading “ERN-RND September 2020 Newsletter”

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

NEW ePAG patient advocate for Huntington’s disease from Bulgaria

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

Category: News

EURORDIS Black Pearl Awards 2021 – Submit your photo

EAN Congress 2021 goes virtual

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”

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”

Research article: “Diagnostic approach to paediatric movement disorders”

New research article: “Low-frequency oscillation suppression in dystonia: Implications for adaptive deep brain stimulation”

ERN-RND November 2020 Newsletter

Research article: “Myoclonus‐Ataxia syndromes: a diagnostic approach”

SARA training tool by DZNE

EPNS Congress 2021 postponed

EJP RD Fellowship experience in Tübingen, Germany

Research article: “Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3”

ERN animation clip subtitled and dubbed in EU languages

Research article: “Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy”

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”

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”

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

New ERN-RND registry coordinator

EJP RD open call for Selection of Topics for Research Training Workshops

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

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”

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

ERN-RND September 2020 Newsletter

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

NEW ePAG patient advocate for Huntington’s disease from Bulgaria