EJP RD research training workshop – call open Continue reading “EJP RD research training workshop – call open”
EURORDIS Leadership School – applications open Continue reading “EURORDIS Leadership School – applications open”
Review article: “The European Reference Network for Rare Neurological Diseases” Continue reading “Review article: “The European Reference Network for Rare Neurological Diseases””
Research article: “Lower urinary tract and bowel dysfunction in spinocerebellar ataxias” Continue reading “Research article: “Lower urinary tract and bowel dysfunction in spinocerebellar ataxias””
Virtual Meeting on How to Improve Access to Care for Huntington Families – recording available Continue reading “Virtual Meeting on How to Improve Access to Care for Huntington Families – recording available”
Review article: “Hypomyelinating leukodystrophies — unravelling myelin biology” Continue reading “Review article: “Hypomyelinating leukodystrophies — unravelling myelin biology””
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”
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””