ERN-RND is a network of 32 Healthcare Providers from 13 EU member states. ERN-RDN builds on existing expert centres and mature networks dedicated to rare neurological diseases (RND) as well as established rare disease infrastructures such as Orphanet, EURORDIS and RD-Connect.
Articles
- Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia
- COVID-19 reveals influence of physical activity on symptom severity in hereditary spastic paraplegia
- PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes
- FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome
- Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset
- Validation of the Movement Disorder Society Criteria for the Diagnosis of 4‐Repeat Tauopathies
- Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
- Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy
- Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia
- Transcriptomic differences in MSA clinical variants
- Validation Study of a German Cognitive Battery for Huntington’s Disease: Relationship Between Cognitive Performance, Functional Decline, and Disease Burden
- Prediagnostic motor and non-motor symptoms in progressive supranuclear palsy: The step-back PSP study
- Brain 5‐HT1A Receptor Binding in Multiple System Atrophy: An [18F]‐MPPF PET Study
- Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases
- RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum
- Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study
- Distribution patterns of tau pathology in progressive supranuclear palsy
- NfL and pNfH are increased in Friedreich’s ataxia
- Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy
- Genome sequencing in persistently unsolved white matter disorders
- Onset features and time to diagnosis in Friedreich’s Ataxia
- MCT8 Deficiency: The Road to Therapies for a Rare Disease
- Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
- Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
- 3 Hz postural tremor: A specific and sensitive sign of cerebellar dysfunction in patients with cerebellar ataxia
- Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement
- Hemichorea as Presentation of Acute Cortical Ischemic Stroke. Case Series and Review of the Literature
- Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation
- Enlargement of peripheral nerves in Krabbe disease: The diagnostic value of nerve ultrasound
- How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy
- Prominent White Matter Involvement in Multiple System Atrophy of Cerebellar Type
- Cerebrospinal fluid cytokines in multiple system atrophy: A cross-sectional Catalan MSA registry study
- A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
- Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging
- International Guidelines for the Treatment of Huntington's Disease
- Disentangling brain functional network remodeling in corticobasal syndrome – A multimodal MRI study
- Efficient RT-QuIC seeding activity for α-synuclein in olfactory mucosa samples of patients with Parkinson’s disease and multiple system atrophy
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
- The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration
- POLR3A variants with striatal involvement and extrapyramidal movement disorder
- Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration
- Relations of non-motor symptoms and dopamine transporter binding in REM sleep behavior disorder
- Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study
- Setting in motion physiotherapy for MSAp
- GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models
- Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study
- Effect of pallidal deep-brain stimulation on articulation rate in dystonia
- Distinctive speech signature in cerebellar and parkinsonian subtypes of multiple system atrophy
Details
- Publication date
- 4 February 2021