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…CCDC88C p.R464H likely cause a novel late-onset parkinsonism phenotype
Objective: We describe two sisters with late-onset parkinsonism associated with a CCDC88C variant (p.R464H). Background: Tsoi et al. (2014) identified a heterozygous missense mutation in the CCDC88C gene (R464H), by…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…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…Verifying imaging accuracy for targeting and lead positioning in DBS: a phantom study.
Objective: In this phantom study we created an overview of the accuracy of four different modalities frequently used in DBS surgery and investigated the influence…Alteration of the fecal microbiota in Turkish patients with idiopathic Parkinson’s disease
Objective: To determine whether the gut microbiota is altered in Turkish patients with Parkinson Disease (PD) and the potential effect of gut microbiota on pre-motor…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…Psychotherapy as a potential treatment for neuropsychiatric startle syndromes of Latah – a case report
Objective: Our report aims to discuss psychotherapy as a treatment modality for Latah. Background: Latah is a culture-specific startle syndrome (classically identified in Malaysian/Indonesian patients)…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…Evaluation of α-synuclein pathology and function in dopaminergic neurons derived from LRRK2 I1371V PD patient iPSCs
Objective: To evaluate cellular pathogenesis in DA neuron function, and α-synuclein pathology using LRRK2-I1371V PD iPSC. Background: It is reported for complex-neurodegenerative disorders like PD,…
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