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…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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