Comparative assessment of cognitive functions of patients with ET and ET plus.
Objective: to conduct a comparative analysis of changes in neurological status and cognitive decline of various types of essential tremor (ET). Background: in the new…Delineating the Molecular and Clinical Spectrum of Epilepsy-Dyskinesia Syndromes in Children (The Epilepsy-Dyskinesia Spectrum Study)
Objective: To understand the spectrum and association of movement and seizure disorders on a clinical and molecular level. Background: Epilepsy-Dyskinesia Syndromes (EDS) are neurological conditions…Clinico- radiological profile of four patients with CSF1R- related leukoencephalopathy: A case series from India
Objective: We aimed to describe the clinical, radiological and genetic profile of patients with CSF1R- related leukoencephalopathy. Background: CSF1R- related leukoencephalopathy is a rare dominantly…Prevalence of Parkinson’s Disease and Possible Parkinsonian Syndrome in Gaucher Disease: Data From the ICGG Gaucher Registry
Objective: To estimate the age-specific risk of Parkinson’s disease (PD) and possible parkinsonian syndrome (pPS) in Gaucher disease (GD) based on registry data. Background: While…PD GENEration: a genetic analysis beyond the classical 7 Parkinson’s disease genes
Objective: To expand the analysis of whole-exome sequencing (WES) data from patients with Parkinson’s Disease (PD) from the PD GENEration cohort. We looked for variants…Expanding the Spectrum of Autosomal Recessive Genes Responsible for Parkinson’s Disease in the Chinese Population
Objective: We aimed to identify novel candidate autosomal recessive (AR) genes combining whole-exome sequencing (WES) and long-read sequencing data (LRS) in autosomal recessive Parkinson’s disease (AR-PD) families and sporadic early-onset…Investigating Copy Number Variations in SNCA and PRKN in a Cohort of Kazakhstani Patients with Parkinson’s Disease and Healthy Controls
Objective: To investigate the frequency of copy number variations (CNVs) in SNCA and PRKN in a cohort of Parkinson’s disease (PD) patients and healthy controls…The Black and African American Connections to Parkinson’s Disease Study
Objective: BLAAC PD is a multi-center study recruiting Black and African American individuals with Parkinson’s Disease (PD) and healthy controls. The ultimate goal is to…A Rare Case of Parkinson’ s Disease Associated With Heterozygous ATP13A2 Gene Mutation: What If There Are No Atypical Features with a Later Onset?
Objective: Autosomal recessive mutations in ATP13A2 gene is a rare cause of levodopa-responsive parkinsonism with atypical features of supranuclear gaze palsy, spasticity, dystonia, dementia, myoclonus,…Cardiovascular Risk Profile in Patients with Primary Familial Brain Calcification
Objective: To explore the cardiovascular risk profile of patients with Primary Familial Brain Calcification (PFBC) and Fahr’s syndrome. Background: PFBC, also known as Fahr’s disease,…
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