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…Decreased blood beta-Glucosidase activity and GBA mutations in Dystonia
Objective: To report on the observation of decreased levels of GCase in peripheral blood in patients presenting with dystonia without signs of parkinsonism. Background: Glucocerebrosidase…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…Sensory trick phenomenon in cervical dystonia: a functional MRI study
Objective: This study investigates the patterns of brain functional MRI (fMRI) during resting-state (RS) with and without sensory trick (ST) and during the ST imagination…Somatosensory Mismatch Negativity is abnormal in Cervical Dystonia.
Objective: Here, we hypothesised that somatosensory abnormality in patients with dystonia relates to a more general deficit in pre-attentive error/deviant detection . Background: Dystonia is a common…
- « Previous Page
- 1
- …
- 9
- 10
- 11
- 12
- 13
- 14
- Next Page »