Identification of two novel patients with VPS13D-related disease and characterization of a +3 splice site variant
Objective: To identify the underlying genetic cause of a childhood-onset spasticity-ataxia-tremor syndrome in a 31-year-old woman. Background: Biallelic variants in VPS13D have been linked to…Distribution of rapid eye movement (REM) sleep without atonia (RWA) across the REM cycles.
Objective: This study aimed to evaluate whether rapid eye movement )REM( sleep without atonia )RWA( is similar throughout multiple REM cycles during one night. Background:…Multimodal assessment of nigrostriatal degeneration in de novo Parkinson’s disease
Objective: To study nigrostriatal changes with a multifactorial neuroimaging approach in order to further characterize early abnormalities in Parkinson’s Disease (PD). Background: Imaging techniques allow…Social cognition and emotional processing in functional movement disorders
Objective: Our objective was to assess the social cognition (Theory of Mind) and emotional processing (alexithymia) in patients with functional movement disorders (FMD). Background: The…The Correlation Analyses of Parkinson’s Disease with Serum Homocysteine, Folic Acid and Vitamin B12
Objective: To explore the associations of serum homocysteine (Hcy), folic acid (FA) and vitamin B12 (VitB12) levels with the severity of Parkinson's disease (PD), as…Binaural acoustic stimulation reduces tremor severity in patients suffering from Parkinson’s disease
Objective: To assess the effects of BBS on motor symptoms in PD. Background: Acoustic stimulation (AS) can improve motor symptoms in Parkinson’s disease (PD) and…Voluntary saccades slowness in parkinson disease and multiple system atrophy
Objective: This study aimed to explore and compare visually-guided and memory-guided saccades in PD and MSA. Background: Parkinson’s disease (PD) produced oculomotor alterations such as…Aromatic L-amino acid decarboxylase deficiency: A rare disease case report and literature review
Objective: We review the presentation of a 3-month-old patient who came to our institution with symptoms of dystonia, oculogyric crises, hypotonia, developmental delay, and dysphagia,…Defining and restoring the underlying neural circuitry of hypersexuality in Parkinson’s Disease
Objective: To define the neural circuitry underlying hypersexuality in Parkinson’s disease and to provide novel therapeutic options by employing neuromodulatory techniques. Background: The balance between…Validating a virtual Timed Up and Go (vTUG) test in Parkinson’s Disease.
Objective: To validate the vTUG as a means of remotely monitoring patient gait and balance in the home. Background: The current regulatory gold standard for…
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