Rare GBA c.1157T>G (p.F386C) Variant in Parkinson’s Disease. Case study.
Objective: To describe the clinical phenotype of a patient with Parkinson's disease who carries a rare heterozygous variant of GBA c.1157T>G (p.F386C) and to analyze…Genetic Architecture of Essential Tremor: Clinical Misdiagnosis and Structural Variant Contributions to Neurobiological Pathways
Objective: To determine the proportion of other neurological disorders mimicking essential tremor (ET) and investigate the contribution of structural variants (SVs) to ET pathogenesis. Background:…Investigation of the Mendelian contribution of parkinsonism associated genes to Parkinson’s disease
Objective: To explore the diagnostic yield and clinical relevance of Parkinsonism associated genes (PAGs) screening in Parkinson’s disease (PD). Background: The contribution of well-known PD…A retrospective Chart Review of Clinical and Demographic Patterns in Essential Tremor
Objective: Essential tremor (ET) is the most common movement disorder, primarily affecting the upper limbs and often impairing daily functioning. Understanding the demographic and clinical…Association study of genetic variants with Essential Tremor
Objective: Using a large case-control study to examine the association of rs17590046 (PPARGC1A) and rs28562175 (LOC) with ET in an Asian cohort. Background: Essential tremor…Evaluation of Polygenic Risk Scores Derived from an Updated Cross-European GWAS for Parkinson’s Disease Prediction in European and Ashkenazi Jewish Populations
Objective: To evaluate whether polygenic risk scores (PRS) derived from a recent genome-wide association study (GWAS) improve Parkinson’s disease (PD) prediction compared with PRS derived…Genetic Disorders Presenting With Tremor at Onset: MDSGene systematic literature review
Objective: We reviewed the Movement Disorder Society Genetic mutation database (MDSGene) to evaluate the prevalence, clinical features and evolution of genetic conditions presenting with isolated…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:…
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