Impaired Nt-acetylation and the Golgi, a new disease mechanism leading to autosomal recessive primary familial brain calcifications
Objective: To identify new disease-gene in unsolved autosomal recessive primary familial brain calcifications. Background: Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain,…Use of stimview technology in deep brain stimulation of Parkinson´s disease patients
Objective: We present our experience of Stimview technology in the neurostimulation of 5 patients with Parkinson´s disease (PD). Background: It is common to make adjustments…Genetic study of early-onset Parkinson’s disease in the Malaysian population
Objective: This study aimed to investigate the genetic architecture of EOPD in a multi-ethnic Malaysian cohort. Background: About 5-10% of Parkinson’s disease (PD) cases are…Course of HIV-associated cerebellar ataxia on the background of antiretroviral therapy: clinical cases of 5 patients
Objective: To evaluate the effect of antiretroviral therapy (ART) on the course of HIV-associated cerebellar ataxia. Background: Cerebellar ataxia is a rare manifestation of HIV…Bilateral staged MR-guided focused ultrasound thalamotomy for Essential Tremor: one-year follow-up results
Objective: To evaluate the safety and efficacy outcomes of bilateral staged magnetic resonance guided focused ultrasound (MRgFUS) thalamotomy for medication-refractory essential tremor (ET) and ET…Early functional disruption in body-first compared to brain-first Parkinson’s disease
Objective: To analyze differences in functional connectivity (FC) between Parkinson’s disease (PD) patients with and without premotor REM behavior disorder (pRBD), by means of high-density…Continuity and presence of side effects of continuous subcutaneous apomorphine infusion and levodopa-carbidopa intestinal gel infusion in advanced Parkinson’s disease, in a movement disorder unit in Spain
Objective: To determine the number of patients that maintain infusion therapies (continuous subcutaneous apomorphine infusion (CSAI) and levodopa-carbidopa intestinal gel (LCIG)) as treatment for advanced…Diaphragmatic flutter – when the diaphragm does not obey
Objective: clonic twitching of the rectus abdominis muscle and tonic spasm of the diaphragm Background: 61-year-old patient seeking medical help for difficulties lasting about a…Plasma biomarkers in iRBD patients serve as potential markers of early PD and motor severity
Objective: We aimed to investigate biomarkers of inflammation and neuroaxonal damage in people with isolated REM sleep behaviour disorder (iRBD) compared to controls, and understand…Failure of model-based outcome monitoring in Parkinson’s Disease Apathy
Objective: To investigate the neural basis of apathy in Parkinson’s Disease (PD). Background: Apathy is a debilitating and poorly understood syndrome characterised by a reduction…
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