Distinct patterns of Gene Expression in Skin-biopsy Derived Fibroblasts of Patients with Parkinson’s disease
Objective: In this study, we aimed to investigate global gene expression alterations in cultured skin fibroblasts from individuals with idiopathic Parkinson’s disease (PD) compared to…Understanding the earliest phases of Parkinson’s disease (PD) – an expanding opportunity to study ‘at-risk’/early/prodromal PD in the Global Parkinson’s Genetics Program (GP2)
Objective: To identify and recruit at-risk/early/prodromal Parkinson’s disease (PD) cohorts around the world to the Global Parkinson’s Genetics Program (GP2, http://gp2.org/) and build a global…Genetic Study of polymorphism of cytokines in Parkinson’s disease.
Objective: The aim of our study was to conduct a cohort that demonstrates genetic variations in cytokines genes involved in the physiopathology, the development and…Long-read sequencing to identify unrevealed second hit in autosomal recessive Parkinson’s disease
Objective: Identify unrevealed variants in PRKN and PINK1 genes from young onset Parkinson’s disease (YOPD) patients. Background: Long-read sequencing has identified pathogenic repeats and structural…Candidate biomarkers of EV-microRNA in detecting REM sleep behavior disorder and Parkinson’s disease
Objective: Accessible and reliable biomarkers for early diagnosis of PD and iRBD are urgently needed to identify candidate therapeutic targets and to monitor disease progression…ATP8A2 Mutation in a Tunisian Family : Expanding The Clinical Spectrum
Objective: Our aim was to report the clinical and paraclinical findings from two siblings who presented with a new phenotype of ATP8A2 gene mutation. Background:…Identification and Screening of Candidate Genes for Paroxysmal Movement Disorders by Next Generation Sequencing Approach for Developing Molecular Diagnostics.
Objective: To explore the clinical and genetic features of Paroxysmal Movement Disorders by using Whole Exome Sequencing. Background: Paroxysmal movement disorders (PMDs) comprise both paroxysmal…Improving Work Up amongst Patients with Rare Movement Disorders according to Diagnostic Yield Findings– Update from Single Center Neurogenetic Clinic
Objective: We present the genetic testing diagnostic yield in a tertiary center Neurogenetic Clinic, focusing on rare movement disorders. Background: The diagnostic yield of genetic…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…Writing dystonia in children improves after chronic stimulation of globus pallidus internus
Objective: To analyze clinical characteristics of writing dystonia in a pediatric cohort, and test clinical efficacy of globus pallidus internus (GPi) chronic deep brain stimulation…
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