LRRK2 in Parkinson’s Disease: A per-domain rare-variant burden study
Objective: To study rare variant burden in different LRRK2 domains to investigate domain-based associations with Parkinson’s Disease (PD) and to identify functional variants in LRRK2.…Parkinson’s disease associated SORL1 variants impair mitochondrial and endo-lysosomal function
Objective: We investigate the relationship between Sortilin-related receptor (SORL1) gene and PD, along with their functional implications. Background: Parkinson's disease (PD) is a common neurodegenerative…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…Clinical And Genetic Analysis Of Patients With Parkinson’s Disease -LRRK2 Variants From A Referral Centre In India
Objective: Our study aims to describe the clinical features and genetic profile of patients of PD carrying LRRK2 variants and draw correlation with genetic variants.…Readiness for genetic testing among Indian movement disorder patients:A tertiary centre experience
Objective: To assess knowledge & attitude of Indian patients with movement disorders and their caregivers to understand their readiness for genetic testing. Background: Genetic testing…GBA Mutation Profile in Parkinson’s Disease: Insights from a Movement Disorders Center in Brazil
Objective: To identify the prevalence of pathogenic variants of the GBA1 mutation among patients with parkinsonism who have undergone genetic testing. Background: GBA gene encodes…The NINDS Approach to Therapeutic Development for Ultra-Rare Neurological Disorders, Bridging Translational and Clinical Frontiers in Gene-based Therapy
Objective: To establish an innovative process for fast and efficient pathways of delivering gene-based therapy for ultra-rare neurological disorders from the lab to the clinic…SLC39A8-CDG with manganese deficiency in an adult individual: a case report
Objective: To report the case of an adult male with SLC39A8-CDG and evaluate the effects of manganese supplementation on clinical evolution of the patient. Background:…Understanding diffusion in extracellular space in synucleinopathy
Objective: To understand the extracellular space (ECS) diffusion in synucleinopathy. Background: The pathogenic mechanisms underlying synucleinopathies involve the spread and propagation of α-synuclein aggregates throughout…Abnormal Subthalamic Oscillations as Potential Biomarkers for Identifying the Dyskinesia-Inducing Region within the Subthalamic Nucleus in Parkinson’s Disease
Objective: To investigate the characteristics of local field potentials (LFPs) associated with the STN region that elicit stimulation-induced dyskinesia (SID) in PD patients. Background: Approximately 50%…
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