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:…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…Cerebrotendinous xanthomatosis without tendon xanthoma: a diagnostic challenge.
Objective: To describe the case of Cerebrotendinous xanthomatosis (CTX) without tendon xanthoma, highlighting the diagnostic challenge due to its rarity, as well as the importance…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…Intermuscular and cortico-muscular coherence of patients with writer’s cramp
Objective: We present our pilot data on the Intermuscular coherence (IMC) and cortico-muscular coherence (CMC) pattern in writer’s cramp (WC) patients, healthy participants and patients…Striatal Cholinergic Neurons in Cervical Dystonia
Objective: To determine if there is cholinergic neuronal loss in the putamen in cervical dystonia. Background: The etiology of cervical dystonia is unknown. Striatal cholinergic…Disrupted superior collicular activity may reveal cervical dystonia disease pathomechanisms
Objective: To assess by functional magnetic resonance imaging, the response of the superior colliculi to a looming stimulus in cervical dystonia patients and their unaffected…
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