Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Objective: We aimed to characterize cognitive functions of patients with pure and complicated HSP, and to determine the frequency of abnormal cognitive performances in the…Clinical outcome in early-treated Sepiapterine Reductase Deficiency (SRD): A case report
Objective: To report the outcome of a 6.3-year-old girl with SRD diagnosed and treated since the fifth month of life. Background: Sepiapterin reductase deficiency (SRD)…MDS Rare Movement Disorders Study Group Global Genetic Testing Survey: exploring the unmet needs
Objective: To better understand access to genetic testing at the international level. Background: One of the objectives of the Rare Diseases Study Group (RDSG) of…Prevalence of Restless Leg Syndrome in the general population of Montevideo, Uruguay in 2018
Objective: A transverse study was projected in order to determine the prevalence of Restless Leg Syndrome in the general population of Montevideo, estimate the severity…Entity of excessive daytime sleepiness in Parkinson’s disease
Objective: To examine frequency and reasons of excessive daytime sleepiness (EDS) in patients with Parkinson’s disease (PD). Background: Neurodegeneration and dopaminergic medications are known to…Sleep quality in Turkish patients with Parkinson’s disease
Objective: The aim of our study is to investigate the quality of sleep and the prevalence of excessive daytime sleepness(EDS) and nighttime problems in patients…Safinamide in the treatment of URINARY symptoms in PARKinson’s disease (SURINPARK)
Objective: We compared the effects of safinamide on the urinary symptoms of Parkinson's disease with other therapies. Background: Urinary symptoms (US) are common, disabling and…A Smart Device System (Wearable technology band) to Identify New Phenotypical Characteristics in Parkinson‘s disease patients
Objective: To develop methods for analyzes and monitor of gait data via smart device system and identify new phenotypical characteristics in PD patients. Background: Parkinson's…The Impact of Progressive Supranuclear Palsy (PSP) Disease Severity on Caregivers
Objective: To quantify the impact of varying severity levels on caregivers’ burden and health-related quality of life (HRQoL). Background: PSP is a progressive disease. Patients…
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