Krabbe disease: A systematic review and evidence-based guideline for diagnosis
Objective: To summarize and analyze the clinical and genetic profile of patients with Krabbe disease worldwide, and further explore the genotype-phenotype relationships. Background: Krabbe disease…Randomized Controlled Trial of Supplementary Motor Area Transcranial Direct Current Stimulation in Tourette Syndrome
Objective: To investigate the effect of cathodal transcranial direct current stimulation (tDCS) over the supplementary motor area (SMA) on tic severity in Tourette syndrome (TS).…REM sleep behavior disorder and Prodromal Parkinson’s Disease in patients with Essential Tremor
Objective: To assess the prevalence of REM sleep behaviour disorder (RBD) and Prodromal Parkinson's Disease (PPD) in Essential Tremor (ET) and to characterize these sub-groups…Low intensity focused pulsed ultrasound as a treatment of essential tremor: a case series
Objective: This open label clinical trial evaluates the symptomatic motor improvement induced by Low Intensity Focused Ultrasound on essential tremor through clinical performance assessment in…Is essential tremor-plus phenotype a prodromal phase of Parkinson’s disease ?
Objective: To study the probability of conversion of essential tremor (ET) and ET-plus patients to Parkinson's disease (PD). Background: ET-plus syndrome represents a wide spectrum…Bi-allelic BORCS5 Variants Result In A Wide Spectrum of Progressive Neurodevelopmental Disorders via Lysosomal Dysfunction
Objective: To characterize a new brain disorder associated with BORCS5 variants, elucidating their effect on lysosomal distribution and activity Background: BORCS5 encodes a subunit of…ATP1A3-related disorder overlapping syndrome: a case report
Objective: The phenotypic spectrum in dystonic syndromes in ATP1A3-related disorders is wide. History of drug-refractory seizures, developemental delay, incoordination, dysarthria and dysphagia and movement disorders…Lysosomal network defects in parkinsonian patients carrying rare variants in lysosomal hydrolytic enzyme genes
Objective: Functional validation of rare variants of lysosomal genes potentially associated with early onset Parkinson's disease (EOPD) Background: The genetic load in EOPD is high;…Increased alpha-internexin levels are associated with a higher risk of Parkinson’s disease
Objective: This study aims to evaluate the causal relationship between plasma alpha-internexin levels and the risk of Parkinson’s disease (PD). Background: Alpha-internexin, implicated in neuronal…Contribution of Genetics to Onset of PD with Leg Tremor
Objective: To determine frequency and determinants of resting tremor in the leg as first motor symptom in Parkinson Disease (PD), especially as related to age…
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