Correlation between neurological phenotype, neuroimaging and clinical outcome in a single centre Wilson disease cohort.
Objective: Correlate brain MRI features with the clinical phenotype and outcomes in chronically treated Wilson Disease (WD). Background: Neurological WD is characterised by a variety…Establishing a Natural History of X-linked Dystonia Parkinsonism
Objective: Our main objective is to establish a comprehensive, quantitative assessment of movement dysfunction and bulbar motor impairments that are sensitive and specific to disease…Multimodal imaging analysis of autosomal recessive Parkinson’s disease.
Objective: To explore whether autosomal recessive forms of monogenic PD (mPD) might lead to cortical and white matter (WM) abnormalities in addition to dopaminergic denervation.…Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches
Objective: The aim of this study is the identification of progression and treatment response outcomes for POLR3A-associated spastic ataxia caused by the recurrent intronic c.1909+22G>A…Kufor-Rakef syndrome, report of two unrelated cases from Chile studied with DAT-PET
Objective: To describe two previously unreported, unrelated cases of atypical parkinsonism caused by mutations in ATP13A2gene. Background: ATP13A2 gene, previously known as PARK 9, has recently…Using Long read sequencing to identify complex structural variants in PRKN-PD
Objective: Identify complex structural variants in PRKN gene from Parkinson’s disease patients. Background: PRKN is the most frequent causative gene in young onset Parkinson's disease…Transition among HD-ISS stages as an endpoint in clinical trials for HD
Objective: Investigate the time to the event of HD-ISS Stage 3 transition (functional change) as an endpoint for clinical trials in Huntington’s disease (HD) and…Whole exome sequencing of 67 Swedish Parkinson patients identifies a family with VPS35 D620N
Objective: To determine the usefulness of WES in the diagnostic evaluation of Parkinson’s disease (PD) patients and to set up computational pathways for the identification…RNF216–associated neurodegeneration: Is it a new NBIA disorder?
Objective: To describe certain unique clinical and imaging features in a patient with RNF216-associated neuro degeneration (RNF216-AN) Background: RNF216-AN, known as Gordon Holmes syndrome is…Functional brain network alterations in the prodromal phase of X-linked dystonia-parkinsonism
Objective: To determine whether functional connectivity changes are already present in non-manifesting carriers (NMCs) of the TAF1 gene mutation causing X-linked dystonia-parkinsonism (XDP). Background: XDP…
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