News 2020 – ERN-RND | European Reference Network on Rare Neurological Diseases

Research article: “Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C”

Continue reading “Research article: “Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C””

Registration and abstract submission for the EAN Congress 2021 are open

Continue reading “Registration and abstract submission for the EAN Congress 2021 are open”

Research article: “Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes”

Continue reading “Research article: “Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes””

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”

ERN-RND December 2020 Newsletter

Continue reading “ERN-RND December 2020 Newsletter”

EURORDIS Black Pearl Awards 2021 – Submit your photo

Continue reading “EURORDIS Black Pearl Awards 2021 – Submit your photo”

EAN Congress 2021 goes virtual

Continue reading “EAN Congress 2021 goes virtual”

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”

Category: News 2020

Virtual Meeting on How to Improve Access to Care for Huntington Families – recording available

Review article: “Hypomyelinating leukodystrophies — unravelling myelin biology”

Research article: “Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C”

Registration and abstract submission for the EAN Congress 2021 are open

Research article: “Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes”

No deal Brexit could have detrimental impact for four million people in UK living with a rare disease

ERN-RND December 2020 Newsletter

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