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,…Phenotypic variability of mitochondrial tRNA Ser(UCN) gene [MTTS1] mutation: First report from India
Objective: To describe a rare cause of mitochondrial ataxia in an Indian Agarwal family, associated with cytochrome c oxidase deficiency due to point mutation in…Association of Liver Fibrosis with Motor Deficits in Parkinson’s Disease
Objective: To determine the impact of liver fibrosis on motor symptoms in Parkinson’s disease Background: Parkinson’s disease motor symptoms can vary with systemic illnesses [1,2].…
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