First case of sporadic ATP6AP2 Mutation reported in Asia in a Parkinson’s Disease patient
Objective: Genetic analysis of Parkinson's Disease (PD) with features of spasticity by Whole Exome Sequencing (WES) and use of its result for treatment modification to…Deep Brain Stimulation in Parkinson’s Disease Patients: A One Year Follow-up in the Understudied Geography of Brazil
Objective: This study aimed to evaluate the role of deep brain stimulation (DBS) in the improvement of health-related quality of life (HR QoL) outcomes in…Evaluation of a novel Phosphodiesterase 5 inhibitor as a potential therapeutic agent in P301S transgenic mouse model of tauopathy.
Objective: In the current study, we evaluated a newly developed compound with a 1,3,5-trisubstituted pyrazoline scaffold with an improved PDE5 inhibitory potency as a potential…Concordant RNA patterns in Parkinson’s disease brain and peripheral blood.
Objective: To investigate the molecular correlates of clinical heterogeneity in Parkinson’s disease (PD) in the striatum and peripheral blood. Background: The molecular basis for clinical…Neuroimaging and correlation with functional status in children with cerebral palsy
Objective: To analyse the neuroimaging findings and to establish a correlation between clinical features and magnetic resonance imaging (MRI) patterns in children with cerebral palsy…Heterozygous aprataxin gene mutation associated with atypical multiple system atrophy phenotype: a case report
Objective: We describe a 73-year old patient carrying a heterozygous mutation in aprataxin (APTX) gene presenting multiple system atrophy-parkinsonian variant (MSA-P). Background: Ataxia with oculomotor…Presence of neuropathy in most frequent hereditary cerebellar ataxia SCA1, SCA2 and FRDA in Serbian population
Objective: The aim of our study is to determine the frequency and pattern of neuropathy in patients with the most frequent hereditary ataxias in Serbian…Benefit of multiple incobotulinumtoxinA injections for pain reduction in adults with cervical dystonia: an analysis of pooled data
Objective: To assess the long-term effects of repeated incobotulinumtoxinA (inco-A) injections on cervical dystonia (CD)-related pain in a pooled analysis of studies in adults with…p.Gln257Profs*27 mutation in progranulin gene in a patient with corticobasal syndrome – the importance of family history
Objective: To report a case of a family with a mutation in progranulin gene manifesting as corticobasal syndrome, frontotemporal dementia and parkinson's disease. Background: Corticobasal syndrome (CBS) is mostly…Impulse control disorder related to dopaminergic therapy in progressive supranuclear palsy
Objective: To report a patient with progressive supranuclear palsy (PSP) in whom an impulse control disorder (ICD) was triggered by a dopaminergic therapy. Background: ICDs…
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