PRECISE-PD: From pathophysiology to precision medicine for Parkinson’s disease
Objective: To propose a mechanism-based progression model of Parkinson’s disease (PD) by combining genetic, imaging, and longitudinal clinical data from a large cohort of patients.…Is the gene expression of TAF1 modified by the X-linked dystonia-parkinsonism-associated hexanucleotide repeat?
Objective: To investigate the impact of the hexanucleotide repeat within the X-linked dystonia-parkinsonism-associated haplotype on endogenous TAF1expression. Background: X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative movement…Dementia with Lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile
Objective: Whether GBA1 mutations are associated with a CSF alpha-synuclein profile in DLB. Background: Patients with dementia with Lewy bodies (DLB) reveal a variable pathology…Genetic analysis of DNA methylation and hydroxymethylation genes in Parkinson’s disease
Objective: To investigate the relationship between DNA methylation/hydroxymethylation genes and Parkinson’s disease (PD), we conducted genetic analysis in a relatively large Chinese population. Background: PD…Clinicopathologic Characterization and Abnormal Autophagy of HDLS
Objective: We aimed to investigate clinical and pathological characteristics in hereditary diffuse leukoencephalopathy with spheroids (HDLS) patients and explore the potential impact of colony-stimulating factor…Distinct phenotypic expression in a large PKAN cohort in the Dominican Republic
Objective: Analysis of a large genetically homogenous PKAN population, assessing demographics, clinical features, and rating scales to characterize observed phenotypic heterogeneity. Background: PKAN is an…Movement disorders in late-onset inborn errors of metabolism – a new diagnostic algorithm
Objective: We propose a novel diagnostic algorithm to help clinicians to diagnose inborn errors of metabolism (IEM) in adolescents and adults that present with a…Familial Creutzfeldt-Jakob disease with D178N and Met129Val
Objective: Fatal familial insomnia (FFI) and Creutzfeldt-Jakob disease (CJD) are two phenotypes that share a common point mutation at codon 178 of the prion protein…Clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) studied with whole exome sequencing (WES)
Objective: We aim to investigate the clinical and genetic features of PKD in a large cohort of patients in with WES. Background: PKD is a…Spinal Cord Stimulation for Severe Restless Leg Syndrome
Objective: Objectives: To report the use of spinal cord stimulation (SCS) in a patient with severe and refractory familial Restless Leg Syndrome (RLS). Background: RLS…
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