The Clinical and Genetic Characteristics of HSP Patients by WES Sequencing Combined with MLPA
Objective: We aim to clarify the phenotype and gene spectrum of hereditary spastic paraplegia (HSP) and improve the molecular diagnosis. Background: Next-generation sequencing-based molecular assessment…Deep Brain Stimulation in Tourette Syndrome: Characteristics of Three Patients Pre and Post Implantation
Objective: To elucidate how deep brain stimulation (DBS) for Tourette’s syndrome (TS) impacts psychiatric comorbidities including attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, and depression.…The Fazekas scale score and the occurrence of adverse events after MRgFUS thalamotomy, is there a relationship?
Objective: To analyse whether the score on the Fazekas scale (FS) correlates with an increased risk of adverse effects (AEs) after unilateral magnetic resonance-guided focused…Characteristics and Treatment Patterns of Patients Newly Diagnosed With Essential Tremor: A Retrospective Claims Database Analysis in the US
Objective: To understand patient characteristics and real-world medication patterns of patients with essential tremor (ET) being initiated on treatment in the US. Background: ET is…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…
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