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”
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”
Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) Continue reading “Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)”
Jump for Dystonia competition in September Continue reading “Jump for Dystonia competition in September”
David Marsden Award 2021 – open call for submission Continue reading “David Marsden Award 2021 – open call for submission”
SCA & ARCA Global Online Conference 2020 – Abstract submission Continue reading “SCA & ARCA Global Online Conference 2020 – Abstract submission”
Webinars on Leukodystrophies by ELA Deutschland Continue reading “Webinars on Leukodystrophies by ELA Deutschland”
Results of EFNA’s survey on stigma & neurological disorder Continue reading “Results of EFNA’s survey on stigma & neurological disorder”
Share4Rare – new international patient registry for COVID-19 Continue reading “Share4Rare – new international patient registry for COVID-19”
EAN sets up the Ean NEuro-covid ReGistrY (ENERGY) Continue reading “EAN sets up the Ean NEuro-covid ReGistrY (ENERGY)”
#BrainLifeGoals campaign on World Brain Day 2020 Continue reading “#BrainLifeGoals campaign on World Brain Day 2020”
NEW ePAG patient advocate for Leukodystrophies from Germany Continue reading “NEW ePAG patient advocate for Leukodystrophies from Germany”
Research article: “COVID‑19 reveals influence of physical activity on symptom severity in hereditary spastic paraplegia” Continue reading “Research article: “COVID‑19 reveals influence of physical activity on symptom severity in hereditary spastic paraplegia””
SCA & ARCA Global online Conference – registration is open Continue reading “SCA & ARCA Global online Conference – registration is open”
EJP RD course “International Summer School on Rare Disease Registries and FAIRification of Data” Continue reading “EJP RD course “International Summer School on Rare Disease Registries and FAIRification of Data””
Research article: “Features of Speech and Swallowing Dysfunction in Pre-Ataxic Spinocerebellar Ataxia Type 2” Continue reading “Research article: “Features of Speech and Swallowing Dysfunction in Pre-Ataxic Spinocerebellar Ataxia Type 2””
Dystonia Europe & European Huntington Association receive #BrainLifeGoals project grant Continue reading “Dystonia Europe & European Huntington Association receive #BrainLifeGoals project grant”