Implementation of a mobile application in the Luxembourg Parkinson’s study for identification and validation of disease stage and variation
Objective: The project focuses on integrating a mobile application (mPower) into the Luxembourg Parkinson's cohort (HELP-PD) to monitor frequency and degree of variation in symptoms…Development of the UK hereditary spastic paraplegia registry: Analysis of SPAST patients reveals high rate of psychiatric comorbidities
Objective: To (1) describe the genetic variability, phenotype and epidemiology of spastin mutation in HSP patients (2) create the UK HSP register with a focus…Genetic analysis of eighty-seven multiple system atrophy patients
Objective: To analyze candidate genes in a cohort of 87 patients with a clinical diagnosis of probable MSA. Background: Multiple System Atrophy (MSA) is a…Response to thermal and pain stimulation and genetic variance for pain in patients with Parkinson’s disease – Are they all related?
Objective: To examine whether there is a connection between clinical findings, genetics and QST data of Parkinson's disease(PD) patients and to characterize the genetic mechanisms…Hereditary atypical parkinsonism with novel mutation of the VPS35 and FBXO7 genes
Objective: To determine the genetic background of hereditary atypical parkinsonism in an isolated region of the Czech Republic. Background: A higher prevalence of parkinsonism was…C9ORF72 intermediate repeat copies as a rare genetic cause of atypical Parkinsonian syndromes or Parkinson’s disease complicated by psychosis in a Sardinian population
Objective: To screen for the presence of C9ORF72 repeat expansions in patients affected by atypical parkinsonism syndromes and PD complicated by psychosis or dementia, and…Coding and non-coding glucocerebrosidase variants have an impact on cognitive decline in Parkinson’s disease
Objective: To evaluate the impact of genetic variants in the Glucocerebrosidase gene (GBA) on cognitive impairment in a large cohort of Parkinson's disease (PD) patients…Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Objective: To describe a family with two siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. Background: ECHS1 encodes a mitochondrial…Generation of human induced pluripotent stem cells carrying a safety bet for cell-based therapy in Parkinson’s disease
Objective: To increase the safety of future cell-based therapy in Parkinson's disease, we generated human induced pluripotent stem cells (hiPSCs) possessing a safety switch via…Sonographic investigation of Pisa syndrome in Parkinson’s disease
Objective: We hypothesized that the trunk muscles might have an impact on Pisa syndrome, so we performed a sonographic investigation of the trunk muscles of…
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