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…Can membrane association of α-synuclein aggregates lead to stress in the astrocytic endoplasmic reticulum?
Objective: To study the association extracellularly added wildtype-WT and A30P/A53T mutant α-synuclein aggregates with the astrocytic membrane and to evaluate the effect of these peptides…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…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…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…Exosomes from human dental pulp stem cells as a cell-free drug delivery vehicle in vitro and in vivo chronic PD rat model through the intranasal route targeting efficacy & bio-distribution.
Objective: To evaluate the drug encasement in human dental pulp stem cell derived exosomes and its delivery in vitro in single cell level using fluorescence…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…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…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)…High frequency neck vibration changes the pallidal activity in cervical dystonia
Objective: The aim of the current study is to characterize changes in spontaneous pallidal neuronal activity during modulation of peripheral proprioceptive input by means of…
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