Temporal discrimination threshold in musician’s dystonia – an endophenotype?
Objective: To compare the temporal discrimination threshold (TDT) between musician's dystonia (MD) patients and healthy controls, and between dystonic and non-dystonic fingers of musicians with…Frequency and Phenoptypic Spectrum of KMT2B Mutations in Childhood-Onset Dystonia: Results from a Single-Centre Cohort Study
Objective: To assess the frequency of KMT2B mutations in a cohort of patients with childhood-onset dystonia and characterize the related molecular and phenotypic spectrum. Background:…Impaired reaching movements in idiopathic cervical dystonia patients
Objective: Aim of the current study is to describe how patients with idiopathic cervical dystonia (CD) perform reaching movements with their upper limb (i.e. a…Cohort profile of the Japan Dystonia Consortium: Genetic diagnosis and characteristics of movement disorders in Japan
Objective: To reveal molecular epidemiology of hereditary dystonia through resequencing of the currently-known dystonia genes and identification of novel genetic defects. Background: The Japan Dystonia…Spectrum of movement disorders with anti-neuronal antibodies: Case series
Objective: To study the spectrum of clinical features of antineuronal antibody associated neurological syndromes presenting at a tertiary care centre in North India. Background: Movement…Reversible Extrapyramidal features as unusual presentation of central pontine myelinolysis: A case report
Objective: To be acquainted with the extrapyramidal symptoms developed during the course of central pontine myelinolysis. To emphasize the importance of neuroimaging in the diagnosis…Generation and in-depth characterization of induced pluripotent stem cell (iPSC) lines from 10 affected and unaffected carriers of THAP1 mutations
Objective: To establish induced pluripotent stem cells (iPSCs) of affected and unaffected Mutation carriers to investigate disease mechanisms of THAP1 in dystonia. Background: Mutations in…Does ‘DYT23’ exist? Report of a second family with adult- onset focal dystonia and a CACNA1AB mutation – causative or coincidental?
Objective: To describe clinical and genetic findings in a patient with focal adult-onset primary cranial dystonia and chorea, and a mutation in CACNA1B (also referred…Prominent extensor truncal and cervical dystonia induced by mirtazapine
Objective: Truncal and Our aim is to report unusual case of man who developed prominent extensor truncal and cervical dystonia induced by mirtazapine. Background: Truncal…Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability
Objective: To investigate the genetic defect in patients with early-onset dystonia and myoclonus accompanying various neurological features. Background: Unlike other Mendelian disorders, dystonia genetics has…
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