Description Genotype/phenotype of patients with Parkinson’s disease. Report of an Argentinean cohort included in the LARGE PD Consortium.
Objective: To characterize the genetic and phenotypic profile of Argentinean Parkinson's patients and contribute to the understanding of the genetic heterogeneity of this disease. Background:…A unique genetic duality: GAK and SCN4A Mutations in Myasthenic Syndrome and Early-Onset Parkinsonism in a Peruvian woman: A Case Report
Objective: To present the first genetically characterized non-linear summative damage characterized case resulting in early-onset parkinsonism associated with congenital myasthenia Background: The GAK (Cyclin G…Unveiling Parkinson’s Disease Variants in the Chinese Population: The CPD10KGP Study
Objective: In response to these limitations, we are proposing the China Parkinson’s Disease 10,000 Genomes Project (CPD10KGP), which aims to delineate the genetic architecture of…Revealing Novel Genetic Contributors to Parkinson’s Disease in a Chinese Cohort: An Elaborate Examination within the CPD10KGP
Objective: This study employs next-generation sequencing (NGS) and long-read sequencing data (LRS) in Chinese AR-PD families to uncover novel genes, enhancing our genetic comprehension of PD. Background:…Genetic Architecture Of Movement Disorder And Its Association With Consanguinity In Pashtoon Population
Objective: Purpose of the study was to improve the understanding on genetic basis of movement disorders and use of this information for protective measurements like…Genetic Analysis of UK Kindreds with Familial Tremor in The Global Parkinson’s Genetics Progam (GP2)
Objective: To gain a better understanding of the genetic basis of familial tremor syndromes. Background: The genetic basis of tremor is poorly understood and familial…Expanding the Neurogenetic Spectrum: A Case of DEPDC5 Mutation Presenting with Unilateral Tremor and Cognitive Decline
Objective: Here, we report a novel presentation of DEPDC5-related disorders in a 41-year-old patient with unilateral tremors and delayed cognitive decline. Background: DEPDC5 mutations are…RAB32 c.213C>G (p.Ser71Arg) explains Parkinson’s disease in two UK families: description of the clinical and biochemical features
Objective: To describe the clinical features, family structure of two families identified to have the recently described pathogenic variant RAB32 c.213C>G (p.Ser71Arg). Background: Genetic mutations…Utility of using long-read whole genome sequencing to solve exome negative early-onset and familial Parkinson’s disease: a series of 106 individuals
Objective: (i) To identify complex variants usually not visible by short-read whole exome sequencing in known genes of Parkinson’s disease (PD) such as structural variants…Contribution of Genetics to Onset of PD with Leg Tremor
Objective: To determine frequency and determinants of resting tremor in the leg as first motor symptom in Parkinson Disease (PD), especially as related to age…
- « Previous Page
- 1
- 2
- 3
- 4
- …
- 7
- Next Page »