Heterozygous TUBB4A knock-out impairs mitochondrial motility in human neuronal model of DYT4
Objective: To study the role of tubulin beta 4A (TUBB4A) in mitochondrial motility in isogenic induced pluripotent stem cells (iPSC)-derived neurons. Background: Heterozygous mutations in…Brain networks revealed by resting state functional MRI in familial and sporadic primary dystonia
Objective: To identify disease-related brain networks in hereditary and sporadic primary dystonia using resting state fMRI (rs-fMRI). Background: Abnormalities of the cerebello-thalamo-cortical (CbTC) pathways have…Striatal postsynaptic dysfunction in X-linked dystonia-parkinsonism is associated with disease progression
Objective: To assess pre- and postsynaptic dopaminergic function in X-linked dystonia-parkinsonism (XDP). Background: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative adult-onset movement disorder associated with striatal…Axial prominent, delayed onset dystonia in cerebral palsy: Highlights on a distinct phenotype with favorable outcome following deep brain stimulation
Objective: To report on a subgroup of DCP patients with delayed onset of dystonia who received DBS therapy. Background: Dyskinetic cerebral palsy (DCP) is the…Impaired processing of visuo-spatial information in cervical dystonia patients
Objective: The goal of our study was to investigate the spatial distribution of visual processing resources in cervical dystonia (CD) patients with a pure left…Multi-parameter imaging in hemidystonia responsive to GPi deep brain stimulation
Objective: To present i) imaging data in a case of hemidystonia using structural (diffusion tensor imaging-DTI and fiber tractography-FT) and functional (functional MRI-fMRI and magnetoencephalography-MEG)…Temporal discrimination threshold and the menstrual cycle
Objective: To demonstrate the absence of any significant difference in weekly TDT values during two consecutive menstrual cycles in healthy female volunteers. Background: Temporal discrimination…The sense of agency is altered in cervical dystonia
Objective: We investigated whether deficits in motor representation are associated with alterations of the sense of agency in dystonic patients. Background: Abnormalities of the cognitive…A functional magnetic imaging study of the response in the superior colliculus to looming stimuli in cervical dystonia patients and their relatives
Objective: To demonstrate the functional magnetic resonance imaging response to looming stimuli in the superior colliculus of cervical dystonia patients and their relatives with and…Temporal dynamics of pallidal low-frequency oscillations in dystonia
Objective: To assess the occurrence and volatility of 4-12 Hz oscillations in local field potentials (LFPs) recorded in the internal globus pallidus (GPi) of dystonia…
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