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…Dopamine-responsive x-linked parkinsonism-epilepsy due to phosphoglycerate kinase-1 deficiency
Objective: To describe the phenotype of three siblings with early-onset parkinsonism and epilepsy due to an x-linked phosphoglycerate kinase 1 deficiency, expanding our understanding of…Impacts of mutations in Parkinson’s disease-related genes on telomere maintenance
Objective: To investigate the correlation between telomere length (TL) and Parkinson’s disease (PD), and whether the change in telomere biology participates in PD pathogenesis. Background:…Altered cognitive control processes in the prodromal phase of X-linked dystonia-parkinsonism (XDP)
Objective: Investigating non-manifesting carriers (NMC) of the TAF1 gene mutation causing X-linked dystonia-parkinsonism to reveal a potential change in the neural basis of cognitive control processes during…
- « Previous Page
- 1
- …
- 3
- 4
- 5
- 6
- 7
- …
- 16
- Next Page »