Diagnostic algorithm in recessive and sporadic early-onset ataxias
Objective: To develop a diagnostic algorithm that allows to differentiate recessive or sporadic ataxias by the clinical phenotype, biochemical markers and neuroimaging studies of the…Burden of COVID-19 among patients with Parkinson’s disease and associated clinical outcomes: Evidence from a meta-analysis
Objective: To understand the burden of covid-19 among patients with Parkinson’s disease and associated clinical outcomes. Background: COVID-19 has affected millions of patients around the…Cerebellar and other motor symptoms relationship with MRI features in Huntington disease.
Objective: To analyze the relationship between motor scales and brain magnetic resonance imaging (MRI) features in a cohort of Huntington disease (HD) patients. Background: Cerebellar…BRAT1 associated neurodegeneration and review of literature
Objective: To describe the phenotype and genotype of a Mexican patient with epilepsy, mioclono and ataxia with a heterozygote polymorphism in the BRAT1 gene c.453_454insATCTTCTC…Mutational effects of LRRK2 I1371V in astrocytes derived from patient specific iPSCs
Objective: To identify the LRRK2 I1371V mutational effects on astroglial biology involving glutamate metabolism and glutathione machinery. Background: The underlying cause of most of the familial…Availability and accessibility of medicines for patients with Parkinson’s disease in Kyrgyzstan
Objective: The aim of the study was to assess the availability and accessibility of medicines for patients with Parkinson’s disease (PD) in Kyrgyzstan. Background: After…Fundamental changes in Nerve Conduction Velocity and hyperpolarization latency of action potential of Sciatic nerve at the pre-motor phase in a chronic PD in vivo model: a neurotool for Parkinson’s disease diagnosis
Objective: To evaluate the changes in NCV and hyperpolarization latency of action potential of Sciatic nerve at the pre-motor phase in MPTP induced chronic PD…GLUT1 Deficiency Syndrome with Novel mutation responsive to GPi DBS
Objective: To describe a case of a patient with a progressive primary isolated generalized dystonia of childhood onset associated to a novel SLC2A1 mutation with…Chorea Hyperglycemic Basal Ganglia syndrome(CHBG) with Diabetic Lumbosacral Radiculoplexus Neuropathy – A rare case presentation
Objective: To demonstrate that metabolic derangement can lead to choreiform movement disorder. Background: Hemichorea are involuntary, non-patterned movement disorders caused by lesions of the contralateral…Temporal segmentation of FOG using AFSD algorithm on RGB data and on walkway pressure data
Objective: Identify and quantify FOG episodes on RGB, walkway pressure data and display the results in a web interface. Background: Freezing of Gait is a…
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