Tremor and dizziness in a psychiatric patient
Objective: We want to report a case of a patient with anxiety whose neurological symptoms were due to a basal ganglia cavernous malformation. Background: Tremor…Genetic Heterogeneity in Chorea-Acanthocytosis Revealed by Varying VPS13A Mutations Within a Consanguineous Family
Objective: To present a case of a chorea-Acanthocytosis patient genetically confirmed within a recognized consanguineous family, yet displaying a distinct mutation within the VPS13A gene.…Validation of Inertial Measurement Units and an application compared with the reference system to assess the gait in hereditary spastic paraplegia
Objective: To assess the reliability of spatiotemporal parameter measurements in HSP patients obtained from an inertial system and an application compared with the conventional motion…MDSGene Update and Expansion: Clinical and Genetic Spectrum of LRRK2 Variants in Parkinson´s Disease
Objective: To provide a comprehensive and systematic overview of published data on carriers of pathogenic variants in the LRRK2 gene, including demographic, clinical, and genetic…Distinct patterns of Gene Expression in Skin-biopsy Derived Fibroblasts of Patients with Parkinson’s disease
Objective: In this study, we aimed to investigate global gene expression alterations in cultured skin fibroblasts from individuals with idiopathic Parkinson’s disease (PD) compared to…Studying monogenic Parkinson’s disease by building a global cohort of mutation carriers
Objective: ObjectiveTo build a multi-ancestry cohort of individuals with pathogenic variants in genes known to cause Parkinson’s disease (PD) to study monogenic PD at a…RAB32 variant p.Ser71Arg in the ROstock PArkinson’s Disease Study (ROPAD)
Objective: To identify and characterize PD patients with RAB32 variant p.Ser71Arg in the ROstock PArkinson’s Disease Study (ROPAD; ClinicalTrials.gov NCT03866603). Background: A recent preprint provided…Screening for newly PD-associated RAB32 p.S71R variant in Latin America
Objective: Our aim was to identify whether a novel putative pathogenic variant in RAB32, a gene recently associated with familial forms of Parkinson’s Disease (PD),…DPPX Autoimmune Encephalitis Associated with Severe Multifocal Dystonia.
Objective: To describe a novel motor phenomenology in an individual diagnosed with anti-DPPX encephalitis at our institution and to compare it with previously known phenotypic…Therapeutic challenges of long-standing chelator therapy in Wilson’s Disease
Objective: To determine the frequency of side effects of long-term copper chelation therapy in Wilson’s disease (WD). Background: WD is a neurometabolic autosomal recessive disorder…
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