Mutations of COX20 affect the assembly and function of complex IV causing early onset ataxia, dystonia and neuropathy
Objective: To find the causes of an early onset complex movement disorder in two sisters from a non-consanguineous family, and confirm the COX20 variants responsible for such mitochondrial…Clinical progression of Parkinson’s disease: insights from the NINDS common data elements
Objective: To synchronize data collection, the National Institute of Neurological Disorders and Stroke recommended Common Data Elements (CDEs) for use in Parkinson’s disease (PD) research.…Home validation of a smartphone-based tapping task to assess medication responsiveness in Parkinson’s disease
Objective: To validate a timed tapping task (TTT) on a smartphone to ascertain differences in OFF- and ON-phases in Parkinson’s disease (PD) in the home…The impact of motor and non-motor symptoms on walking capacity in people with Parkinson’ disease
Objective: This study aimed to evaluate the motor and non-motor factors associated with walking capacity in people with Parkinson’s disease (PwPD). Background: Walking over short…Do improvements to primary symptoms from sensory training differ in Parkinson’s disease ON vs. OFF dopaminergic medications?
Objective: Investigate whether the effects of sensory training differ ON vs. OFF medication in Parkinson’s disease using the Unified Parkinson’s Disease Rating Scale (UPDRS-III). Background:…Quantifying the incremental burden of advancing Parkinson’s disease in patients meeting the “5-2-1” Criteria: Results from an international dataset from G7 countries
Objective: Quantify the incremental clinical and humanistic burden of advancing Parkinson’s disease (PD) in patients meeting the “5-2-1” criteria. Background: The burden of PD worsens…Cooper-deficiency myeloneuropathy in Wilson´s Disease as a result of D-penicillamine treatment: A case report
Objective: To present a case of subacute combined degeneration of the spinal cord secondary to iatrogenic copper deficiency as a result of D-penicillamine therapy. Background:…Clinical Dementia Rating Scale Sum of Boxes (CDR-SOB) in Parkinson’s Disease: Longitudinal Results
Objective: To assess the change over time (1-2 years) on the Clinical Dementia Rating Sum of Boxes (CDR-SOB) in Parkinson's disease (PD). Background: The CDR-SOB…High prevalence of REM sleep behavior disorder (RBD) in advanced, fluctuating Parkinson’s disease (PD) patients: comparison of clinical parameters between PD patients with and without RBD
Objective: The aim of this study was to investigate the prevalence of RBD in advanced PD patients and to compare the clinical characteristics of advanced…A case report of myoclonus-dystonia with isolated myoclonus phenotype and novel mutation successfully treated with deep brain stimulation
Objective: Report the case of a patient with a novel SGCE gene mutation and isolated myoclonus phenotype who was successfully treated with deep brain stimulation…
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