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,…The Dystonia Coalition Natural History Project: An Available Research Resource
Objective: The purpose of this collaborative, international effort is to provide an available resource containing clinical and video data along with biospecimens for dystonia research.…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…Dystonia as a main clinical feature of AAMR with a novel GMPPA mutation:A case report
Objective: To extend the spectrum of clinical phenotype in the alacrima, achalasia and mental retardation syndrome(AAMR) by reporting a case. Background: AAMR is a newly…Structural network fingerprints for GPI-DBS in dystonia
Objective: Here, we investigate whether patients who respond to GPi-DBS present different brain global and local network organization and structural MRI fingerprints as derived from…Neuromuscular electrical stimulation for the treatment of jaw-closing dystonia
Objective: To measure whether neuromuscular electrical stimulation (NMES) increases jaw-opening distance and improves quality-of-life in jaw-closing dystonia patients. Background: An index case with progressive supranuclear…The Dutch Yips Study
Objective: To investigate the prevalence of the Yips in a well-defined group of golfers and to determine potential risk factors. Background: The Yips is a…Non-motor Symptoms in Hyperkinetic Movement Disorders
Objective: To evaluate the frequencies and clinical features of non-motor symptoms in several different hyperkinetic movement disorders and compare them with the healthy age- and…Different clinical entities of Segawa syndrome within a family
Objective: We report two cases of mother and daughter, both having different expressions of dystonic movements. Background: One of rare dystonic disorders is Segawa syndrome…Dystonic storm with a change of stimulation from constant voltage to constant current
Objective: Deep brain stimulation (DBS) is a FDA approved treatment for dystonia. Medtronic pulse generator (IPG), constant voltage (CV) stimulation and Boston Scientific generator, constant…
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