NUS1 Mutation Causing Ataxia, Myoclonus, and Progressive Encephalopathy
Objective: Describe a rare cause of progressive myoclonus, ataxia, developmental delay Background: 37-year-old man with normal birth but delays in developmental milestones presented for evaluation…Cerebellar and other motor symptoms in Huntington’s Disease: A multiple scale correlation study
Objective: To describe the cerebellar symptoms and other accompanying movement disorders in Huntington's Disease (HD). Background: HD is a pathological entity whose etiological substrate is…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…Multi-modal MRI features and their relationship with clinical scales in Parkinson disease and Atypical Parkinsonian Syndromes
Objective: To compare MRI sings and volumetric measurements in Parkinson disease (PD), Progressive Supranuclear Palsy (PSP), and Multiple System Atrophy (MSA) and their relationship with…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…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…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,…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…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…Absence of nigrosome as a finding in a patient with suspected atypical parkinsonism.
Objective: Reviewing typical neuroimaging features of the substantia nigra.Noting that the absence of nigrosome 1 has also been seen in atypical parkinsonisms. Background: It is…
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