Using whole genome sequencing and intronic sequence analysis to identify pathogenic variants in Parkin-related Parkinson’s Disease
Objective: To clarify the genetic cause of autosomal recessive early-onset Parkinson’s Disease (EOPD) for which only a single heterozygous coding mutation could be identified. Background:…Longitudinal DNA methylation changes, in blood, associated with Parkinson’s disease progression
Objective: To determine if whole blood DNA methylation profiles could distinguish Parkinson's disease from controls and whether any changes correlate with disease progression. Background: Parkinson’s…The role of LRP10 mutations in Parkinson’s Disease and Dementia with Lewy Bodies
Objective: To test LRP10 in a cohort of Italian patients, with a clinical diagnosis of either Parkinson’s Disease (PD) (n=316) or Dementia with Lewy Bodies…Expression profiles from CD14+ monocytes in PD patients with GBA mutations
Objective: To study the pathogenic mechanisms associated with mutations of the GBAgenes in Parkinson’s disease (PD). Background: Mutation of GBA(encoding for glucocerebrosidase, GCase) is one of…Identification of genetic alterations and SNCA mutation in Parkinson’s disease patients of Coimbatore Population, India
Objective: The aim of the study is to analyze the genetic alterations in SNCA gene and dopamine transporter in 22 PD patients of Coimbatore population.…Wislon disease: clinical specificities of the disease course under normal ceruloplasmin in the blood, a clinical case from Kyrgyzstan
Objective: Apparent clinical picture of Wilson's disease with normal blood ceruloplasmin levels in young patients with Wilson's disease. Background: Wilson's disease is a hereditary disease…Dysphagia in Adults with Niemann-Pick Disease Type C
Objective: We aimed to (1) characterise baseline swallow function in people with NPC and (2) evaluate the impact of Miglustat treatment on the swallowing process.…X-chromosomal Dystonia-Parkinsonism: a systematic review of published and unpublished clinical data
Objective: To summarize and curate all published clinical data on x-chromosomal dystonia-parkinsonism (XDP) patients; identify relevant researches working on XDP and contact them for additional…TFEB-driven expression prevents neurodegeneration in a multiple system atrophy mouse model
Objective: To explore the potential neuroprotective effects of overexpressing the transcription factor EB in a MSA mouse model . Background: Synucleinopathies are neurodegenerative diseases characterized…Prevalence of Rem Behavior Disorder (RBD) in different motor subtypes of Parkinson`s Disease corroborated by Polisomnography
Objective: The objective is to compare the prevalence of RBD in the different motor subtypes of Parkinson`s disease (PD), using polysomnography as the gold standard.…
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