Pallidal deep brain stimulation improves dystonia in Woodhouse-Sakati syndrome
Objective: To describe a patient with a rare genetic disorder, Woodhouse-Sakati Syndrome, treated with deep brain stimulation (DBS) for dystonia. Background: Woodhouse-Sakati Syndrome (WSS) is…Expanding the spectrum of ATP1A3 related disorders: Continuum from alternating hemiplegia of childhood to rapid-onset dystonia parkinsonism?
Objective: To report clinical and molecular features of a family showing intrafamilial phenotypic diversity where a novel ATP1A3 mutation was found. Background: Originally there have…The anatomical basis of genetic dystonia: A multimodal MRI study
Objective: We aimed at investigating structural and functional alterations in asymptomatic (aDYT) and symptomatic dystonia (sDYT) mutation carriers. Background: Most of DYT genotypes follow an…The relevance of movement disorders gene panels in clinical practice: How many patients are we sorting out?
Objective: To investigate the impact of movement disorder gene panels in clinical practice and the proportion of patients receiving a definite genetic diagnosis through Next…Symptoms of dystonia in a mouse with mutation in Lamb1
Objective: A mouse model that exhibits symptoms appropriate to dystonia will allow investigation underlying circuit abnormalities. Here we tested two hypotheses with the lamb1t mouse:…
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