Atypical parkinsonism due to a mutation in the SLC9A6 gene
Objective: Expanding phenotypic spectrum in christianson syndrome (CS). Background: CS is an X-linked neurodevelopmental disorder characterized by intellectual disability combined with microcephaly, cognitive impairment, ataxia,…Multi-level and multi-pattern lower- and upper-limb spasticity treatment with incobotulinumtoxinA in children and adolescents with cerebral palsy
Objective: Assess efficacy and safety of incobotulinumtoxinA in lower-limb (LL) or combined LL/upper-limb (LL/UL) spasticity in children and adolescents with cerebral palsy (CP). Background: Ambulant…Movement Disorders Analysis Using a Deep Learning Approach
Objective: Using a deep learning inspired approach, we developed a tool to compute an objective score of bradykinesia. Background: Bradykinesia is defined as a motor…SLC20A2 mutation manifesting as very-late onset orofacial dyskinesia
Objective: We report two cases of genetically confirmed PFBC with a SLC20A2 mutation that presented with very-late onset orofacial dyskinesia. Background: Primary familial brain calcification…A Virtual Speech Therapist for Parkinson’s Disease
Objective: This study was designed as a pilot investigation to explore the use of virtual therapy in the delivery of LSVT LOUD ® (Lee Silverman…Preferences for exercise in people with Parkinson’s disease: A discrete choice experiment
Objective: To identify attributes of evidence-based exercise programs associated with the willingness of people with Parkinson’s disease (PD) to engage in additional exercise. Background: People…Quality of Life Study of Patients Living with Parkinson’s Disesae in Sub-Saharan Africa
Objective: The objective is to assess the quality of life of patients with Parkinson's disease followed in Senegal. Background: Parkinson's disease is a neurodegenerative disease,…PKAN is associated with significant peripheral metabolic alterations in the Dominican Republic cohort
Objective: Applying segmental bioimpedance testing to assess peripheral metabolic alterations in PKAN. Background: PKAN is a rare autosomal recessive disorder with >50 different mutations in…PNPLA6-related Disorder With Expanded Phenotype Including Parkinsonism, Dystonia, And Abnormal Dopamine Transporter Imaging
Objective: To present a case of PNPLA6-related disorder with an expanded phenotype. Background: PNPLA6-related are autosomal recessive disorders with heterogeneous clusters of cerebellar ataxia, upper…Ambulatory Capacity Measure derived from the Movement Disorders Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS)
Objective: (1) Construct a measure of ambulatory capacity derived from the MDS-UPDRS that is similarly structured to the original Ambulatory Capacity Measure (ACM) derived from…
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