Genetic and clinical investigation of young onset dystonia in Korea: What can we learn?
Objective: In this study, we performed whole exome sequencing (WES) in Korean patients with young-onset dystonia, and investigated important factors associated with WES in dystonia.…The spectrum of involuntary vocalizations in humans
Objective: To provide a detailed overview of the wide spectrum of involuntary vocalizations in humans, their etiologies and treatment recommendations. Background: Abnormal vocalizing behaviors are…Depression and cognitive impairment in isolated focal-onset dystonia: prevalence and risk factors in a group of Romanian patients
Objective: To assess the prevalence of depression and cognitive impairment and their potential risk factors in a group of Romanian patients with isolated focal-onset dystonia…The ultrasound image of the nuclei raphes changes in the group of depressed patients with cervical dystonia and blepharospasm
Objective: The ultrasound image of the nuclei raphes changes in the group of depressed patients with cervical dystonia and blepharospasm Background: Nuclei raphe - a…A software framework for objective and quantitative audio-analysis of Embouchure Dystonia (ED)
Objective: Development of an automated audio-analysis software framework for aiding in biomarker identification to objectively quantify ED severity. Background: ED, the second most common phenotype…Geste antagoniste in Catalan art – Santiago Rusiñol’s Laughing Girl
Objective: Our aim is to analyze how the Catalan picture Laughing Girl (La Risueña)could be a depiction of geste antagoniste. Background: Santiago Rusiñol was a…Oromandibular Dystonia: Clinical Data from 68 Patients
Objective: To determine the demographic and clinical data of patients with oromandibular dystonia (OMD). Background: Dystonia is a type of movement disorder characterized by sustained,…Genotype-phenotype relations for the isolated Dystonia Genes TOR1A, THAP1, GNAL, ANO3, KMT2B, PRKRA and HPCA: MDSGene Systematic Review
Objective: To systematically review genotypes and phenotypes of monogenic isolated dystonia. Background: The Movement Disorder Society Genetic mutation database (MDSGene at www.mdsgene.org) provides an overview…Pregnancy and Delivery Complications in Women with Inherited Isolated Dystonia
Objective: To determine whether female mutation carriers of inherited dopa-responsive (DRD) and DYT/TOR1A genes had higher pregnancy and delivery complications than non-carriers Background: Women with…Neurology Residents Versus a Mobile Medical Application in deducing differential diagnoses in Movement Disorders: A multi-center, cross-sectional, observational study
Objective: To test the hypothesis that the differentials generated by the Mobile Medical Application are more clinically relevant and complete to the ones derived by…
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