Whole genome sequencing aids in diagnosing GCH1 dopa responsive dystonia in two Peruvian patients and influences medical management
Objective: To describe the clinical features and treatment response of two Peruvian patients with GHC1 dopa responsive dystonia diagnosed by whole genome sequencing. Background: Pathogenic variants in…Multifractal spectrum width of pallidal activity correlates with dystonic severity
Objective: To examined whether multifractal properties of pallidal activity correlate with dystonic symptom severity across patients. Background: The internal segment of globus pallidus (GPi) is…Prevalence of Essential Tremors in Rural Gujarat, India
Objective: With India’s diverse population, existing epidemiological surveys about neurologic disorders like essential tremors (ET) cannot be accurately extrapolated, presenting a need for population-based surveys…Mortality of people with Parkinson’s disease in a large population-based cohort study. Time trends and relationship to disease progression.
Objective: To explore how PD mortality rates have changed over time and their relationship to disease progression, age, gender and social deprivation using a large…Yoga for Functional Neurological Disorder – Two Case Descriptions
Objective: To describe key components of a yoga program for two individuals with Functional Neurological Disorder (FND). Background: FND is the second most common reason…Mutation analysis of BSN gene in patients with multiple system atrophy
Objective: To investigate the mutations of the BSN gene in patients with multiple system atrophy (MSA). Background: We have reported some mutations in the bassoon…Genetic features and long-term outcome of Korean patients with Huntington’s disease.
Objective: To investigate the genetic characteristics and long-term outcome of Korean patients with Huntington’s disease. Background: Huntington’s disease is an autosomal dominant neurodegenerative disease, which…Burden of illness among US Medicare beneficiaries with late-onset Huntington’s disease
Objective: Examine healthcare resource utilization (HRU) and costs among US Medicare beneficiaries with late-onset Huntington’s disease (LoHD). Background: Huntington’s disease (HD) is a genetic, neurodegenerative…The Burst Duration in Cortical Myoclonus Patients, What is the Cut-Off?
Objective: The aim of this study is to identify a cut-off value for the burst duration of cortical myoclonus in a large cohort of myoclonus…Efficacy of Incobotulinumtoxin/A Treatment for Children/Adolescents with Sialorrhea associated with Neurological Disorders
Objective: The SIPEXI (Sialorrhea Pediatric Xeomin Investigation) study investigated efficacy and safety of intraglandular incobotulinumtoxinA (incoBoNT/A) injections in children/adolescents with sialorrhea associated with neurological disorders…
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