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…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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