Sleep profiles in patients with Essential Tremor and Essential Tremor Plus: Polysomnography Insights
Objective: This study aims to assess sleep disturbances in Essential tremor (ET) and its variant, ET plus, compared to healthy controls using Polysomnography (PSG), and…Application of Neurophysiology in the Clinical Evaluation of Pediatric and Adolescent Patients with Tremor
Objective: We explored the utility of noninvasive electrophysiological tremor studies in patients referred for evaluation by pediatric movement specialists following their clinical assessment . The…Complex Movement Disorders in Late Onset TPP1 Gene Mutation (Atypical Neuronal Ceroid Lipofuscinosis Type 2)
Objective: To describe an atypical late onset phenotypical presentation of a homozygous TPP1 mutation with complex movement disorders. Background: TPP1 mutations, lead to deficiency of…GBA1 deficiency differentially affects endolysosomal trafficking in neurons and astrocytes
Objective: To characterize how GBA1 deficiency alters endolysosomal trafficking in astrocytes versus neurons. Background: Mutations in the gene glucosidase, beta acid 1 (GBA1) not only increase risk…Disease Progression in Patients with PLA2G6-related Parkinsonism: A Longitudinal Study
Objective: To investigate disease progression of PLA2G6-related parkinsonism in a longitudinal study. Background: There is a paucity of follow-up studies on disease progression in PLA2G6-related…Genetic Modifiers of Age at Onset for Parkinson’s Disease in Chinese Population
Objective: This study aimed to identify novel genetic modifiers of age at onset (AAO) for Parkinson’s disease (PD) including common variants and rare variants using…Common Genetic Variation Associated with Parkinson’s Disease Biological Measures
Objective: To identify common genetic variants associated with biological measures that have been implicated in Parkinson’s disease and related synucleinopathies. Background: Alpha synucleinopathies, mainly including…Determining and Leveraging Local Ancestry to Assess Individual-Level Risk: from the Global Parkinson’s Genetics Program
Objective: We develop a scalable pipeline leveraging existing tools to determine local ancestry for all individuals in the Global Parkinson’s Genetics Program (GP2), aiming to…Expanding Phenotype of LRRK2 G2019S Mutation: Case Description of Two Sisters Showing Peculiar Phenomenological Traits
Objective: The aim of this case report is to describe and expand LRRK2 phenomenology, including clinical presentation and disease course. Background: LRRK2 is the most…Real-life experience of switching from D-penicillamine to trientine tetrahydrochloride – a nationwide registry study
Objective: Our aim was to assess the efficacy and safety of trientine tetrahydrochloride (TETA4HCL) in a cohort of neurological Wilson's disease (WD) patients transitioned from…
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