Improvement in the handicap is maintained after 5 years of deep brain stimulation in Parkinson’s disease
Objective: To characterize the handicap after 4.8 years of DBS-STN and to compare with pre-surgery data. Background: The London Handicap Scale (LHS) provide an overall…Loneliness/Social Isolation as a Risk Factor for Worsened Parkinson Disease Severity
Objective: The goal of this project was to evaluate the association between self-reported loneliness, quality of life, and patient-reported symptoms of Parkinson’s disease (PD) severity.…PKAN is associated with significant peripheral metabolic alterations in the Dominican Republic cohort
Objective: Applying segmental bioimpedance testing to assess peripheral metabolic alterations in PKAN. Background: PKAN is a rare autosomal recessive disorder with >50 different mutations in…Olfactory impairment in Wilson’s disease
Objective: Olfactory dysfunction is a very common and early sign of many neurodegenerative disorders, but little is known about olfactory dysfunction in Wilson’s disease (WD).…Adrenoleukodystrophy Spastic Gait: Treatment with Fampridine
Objective: Report a possible alternative treatment for spastic gait in 2 adult patients with adrenoleukodystrophy. Background: X-linked adrenoleukodystrophy is a peroxisomal hereditary disease with tissue…SYNGAP1-related intellectual disability with ataxia and late onset of epileptic seizures
Objective: To characterize seizures in a patient with SYNGAP1 mutation and the efficacy of antiepileptic drugs (AEDs). Background: SYNGAP1-related intellectual disability is characterized by developmental…Phenotypic analysis of subjects with homozygous and compound heterozygous PANK2 mutations in a single extended pedigree from the Dominican Republic (DR) PKAN cohort
Objective: Whole exome sequencing and genotypic screening of homozygous and heterozygous PANK2 mutations in the Dominican Republic. Background: PKAN affects 1 in 1,000,000 people worldwide,…Comprehensive Screening of Genetic, Genomic, Mitochondrial, and Microbiome Associations with Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: Establish novel molecular predictors of phenotypic variation using screening of genomic, transcriptomic, mitochondrial, microbiome, and clinical features. Background: Pantothenate Kinase Associated Neurodegeneration (PKAN), also…KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?
Objective: To report the association of lysine-specific histone-methyltransferase 2B gene (KMT2B)-related dystonia (DYT28) and Klippel-Feil Syndrome (KFS). Background: Dystonia is a hyperkinetic movement disorder characterized…Mcleod syndrome: Systematic review with meta-analysis
Objective: Analyze, review and describe the pathognomonic or characteristic signs and symptoms of Mcleod syndrome. Background: Mcleod syndrome is caused due to a mutation of…
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