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.…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…Phenotypic Variability of PRNP and Related Movement Disorders
Objective: Delineation of clinical and genetic features of PRNP-related movement disorders in two families. Background: Genetic prion disease can have a variable and overlapping phenotypic presentation…The Intention Component of Postural Tremor in Essential Tremor
Objective: This study seeks to better characterize postural tremor in ET and to investigate the effect of intention and visual input on the amplitude and…The functional consequences of the ‘African GBA1 allele’ of rs3115534 in Parkinson’s Disease
Objective: To gain insights into the pathophysiology by which the G-allele of rs3115534 confers risk for PD. Background: A recent paper defined the G-allele of…Do Lower Doses of Botulinum Neurotoxin Type-A Offer a Longer Duration of Effect and Superior Efficacy in Patients with Cervical Dystonia?
Objective: To determine if there is a difference in efficacy and duration of effect between high-dose and low-dose botulinumtoxin neurotoxin type-A for cervical dystonia. Background:…A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism
Objective: The current study was designed to investigate the genetic cause of atypical Parkinsonism is a multigenerational Pakistani family Background: Hereditary Diffuse Leucoencephalopathy with axonal…Identification of Compound Heterozygous and Novel Deep-Intronic TH Mutations in a Chinese Patient with Dopa-Responsive Dystonia
Objective: This study aims to delineate the genetic underpinnings of a case affected by dopa-responsive dystonia (DRD), characterized by novel compound heterozygous mutations within the…Deep Brain Stimulation in Tourette Syndrome: Characteristics of Three Patients Pre and Post Implantation
Objective: To elucidate how deep brain stimulation (DBS) for Tourette’s syndrome (TS) impacts psychiatric comorbidities including attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, and depression.…Social Media Listening Study to Understand the Journey and Unmet Needs of Patients Living With PSS
Objective: To employ social media listening to uncover insights into poststroke spasticity (PSS) patient experiences, unmet needs, and impact on quality of life. Background: PSS…
- « Previous Page
- 1
- …
- 174
- 175
- 176
- 177
- 178
- …
- 1554
- Next Page »