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…Stimulus-induced paroxysmal cranial dyskinesia and Nail Patella Syndrome in a multigenerational family with a novel mutation in the LMX1B gene
Objective: To perform a genetic linkage study with the aim to identify the cause of dyskinesia in a large family with affected members in several…Combined Botulinum Toxin and Gpi DBS therapy in intractable cervical dystonia
Objective: To test whether the reintroduction of Botulinum Toxin Injections (BTI) after Globus pallidus interna Deep Brain Stimulation (Gpi-DBS) for intractable cervical dystonia synergistically improves…Cerebellar brain inhibition and cervical dystonia: exploring clinico-electrophysiological associations
Objective: To examine the association between clinical features of cervical dystonia (CD) and cerebellar inhibition of the motor cortex (M1). Background: The involvement of cerebellar…Pantothenate kinase-associated neurodegeneration in Tunisian families
Objective: To describe clinical features, imaging and genetic findings of 6 Tunisian families diagnosed with PKAN. Background: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive…The impact of physical activity and exercise on people living with dystonia
Objective: The objective was to conduct a survey to elucidate the impact of exercise and physical activity on dystonia and identify barriers to participation. Background:…Domain-specific impact of mood/anxiety disorders on quality of life in idiopathic dystonia
Objective: To evaluate the relationship between mood/anxiety disorder severity and quality of life (QoL) domains in adult-onset idiopathic dystonia (AOID). Background: Depression and anxiety exert…Physiotherapy in cervical dystonia with focus on clinical assessments on ICF
Objective: It is to assess if the results of the common clinical evaluation of patients with cervical dystonia can be summarized in an objective observation…
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