Machine learning reveals candidate genes from Parkinson’s disease associated loci
Objective: To prioritize candidate genes from Parkinson's disease (PD) genome-wide association studies (GWAS) for future functional studies. According to PubMed, most of the field still…Preliminary evidence for evolution of myoinositol and N-acteylaspartate as biomarkers of disease severity in early-stage multiple system atrophy
Objective: To quantify the longitudinal evolution of metabolic indicators of gliosis and neuronal integrity in patients with multiple system atrophy (MSA) over one year. Background:…Spinal cord stimulation for gait in Parkinsons disease in subthreshold settings
Objective: To assess optimal parameters for tonic spinal cord stimulation (SCS) for Parkinson’s Disease (PD) gait disorders in blinded settings. Background: SCS is a promising…Generalized chorea, cerebellar ataxia and spastic tetraparesis with a genetic mutation in FAT2 gene – coincidence or a new SCA45 phenotype?
Objective: To present what might be a new phenotype of spinocerebellar ataxia type 45. Background: Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant,…Comparing neuromelanin intensity estimation techniques for Parkinson’s disease image analysis
Objective: The objective of this study is to compare robust neuromelanin (NM) substantia nigra pars compacta (SN) and locus coeruleus (LC) quantification techniques captured in…Diabetic striatopathy presenting without hyperkinetic movements
Objective: To demonstrate a case of Diabetic striatopathy presenting without hyperkinetic movements Background: Diabetic striatopathy is an uncommon neurological complication associated with poorly controlled Diabetes Mellitus…Botulinum toxin treatment for focal dystonia in a Tunisian cohort
Objective: Our aim was to report the etiology, management and outcome of patients with focal dystonia. Background: Focal dystonia (FD) is characterized by involuntary muscle…Analysis of a wearable sensor, STAT-on®, to detect motor complications in patients with Parkinson´s disease (PDp)
Objective: Analysis of the use of a personalized monitoring device, STAT-on®, to detect motor complications in PDp and its impact on the therapeutic approach. Background:…Chorea as a clinical manifestation in adult-onset of metachromatic leukodystrophy
Objective: Here we want to present a patient with chorea as part of clinical manifestation of adult onset of metachromatic leukodystrophy. Background: Metachromatic leukodystrophy is…Are patients presenting earlier in time? Secular changes in REM sleep behavior disorder
Objective: To determine if secular changes occur in REM sleep behavior disorder (RBD). Background: RBD is the strongest clinical marker of prodromal synucleinopathy, and provides…
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