Merging global cohorts of manifesting and non-manifesting carriers of pathogenic variants in known Parkinson’s disease genes
Objective: To create a global cohort of manifesting and non-manifesting carriers of pathogenic variants in known monogenic Parkinson's disease (PD) genes, such as LRRK2, PRKN, and PINK1, to better…DaTscan striatal binding ratio dynamics in mutations carriers at risk for Parkinson’s disease: A 2-year prospective study
Objective: To investigate the temporal dynamics of striatal binding ratios (SBRs) among individuals with Parkinson's disease (PD)-related mutations and its' association with likelihood ratio (LR)…The frequency of glucocerebrosidase mutations in a subgroup of early-onset Parkinson’s disease patients in the Korean population
Objective: We investigated the frequency of GBA mutations in the Korean patients with early-onset Parkinson’s disease (PD). Background: Glucocerebrosidase (GBA) mutations are associated with increased…PHENOTYPIC DESCRIPTION OF TWO UNREPORTED FAMILIES WITH ANO3 DYSTONIA
Objective: This is the phenotypic description of two families affected by hereditary dystonia associated to gene ANO3 mutation (DYT24), one with a heterozygous verisimilarly pathogenic…Post deep brain stimulation cognitive decline in GBA-related Parkinson’s disease
Objective: Neurocognitive deterioration study in GBA-related Parkinson’s disease (GBA-PD) following Deep Brain stimulation Surgery of the Sub Thalamic Nuclei (STN-DBS) Background: A faster progress of Parkinson’s…Longitudinal white matter microstructural changes in the prodromal phase of PD: A 2 year prospective study
Objective: To prospectively investigate white matter (WM) alterations in non-manifesting carriers (NMCs) of Parkinson's disease (PD)-related mutations, and its association with likelihood ratio (LR) scores.…Mechanisms and Consequences of Weight Gain After Deep Brain Stimulation of the Subthalamic Nucleus in Patients with Parkinson’s Disease
Objective: To identify stimulation-dependent effects of deep brain stimulation (DBS) on body weight and energy metabolism depending on the electrode position within the subthalamic nucleus…A child with infantile onset paroxysmal episodes of jerks and stiff limbs
Objective: To present a child with ADCY5 related movement disorder having clinical response to steroids. Background: A 17 year old female, with delayed developmental milestones…The brain-age framework in Parkinson’s disease: evaluating MRI morphometry and sex-dimorphism
Objective: We aimed to develop an MRI brain-age prediction (BAP) model to evaluate differences between Parkinson’s disease (PD) and healthy controls (HC). We further evaluated…Relative bioavailability of levodopa administered as a subcutaneous infusion with ND0612 versus oral immediate-release levodopa/carbidopa tablets
Objective: To determine the relative bioavailability of levodopa when administered as a subcutaneous (SC) levodopa/carbidopa (LD/CD) infusion with ND0612 versus levodopa derived from oral immediate-release…
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