A Mcleod syndrome family and novel XK gene mutation in China mainland
Objective: To explore the clinical and genetic features of Mcleod syndrome caused by XK gene mutation. Background: A clincal case we observed in 2017. Methods:…Is primary writing tremor a form fruste of dystonia?
Objective: To investigate whether primary writing tremor (PWT) and dystonia share a common pathophysiology and clarify if they are different phenomenological expressions of the same…Screening study of COL6A3 in sporadic isolated dystonia
Objective: To verify the role of COL6A3 in isolated dystonia. Background: COL6A3 has recently been suggested to cause a form of autosomal recessive isolated dystonia.…Effects of balance training in patients with cervical dystonia
Objective: To investigate if patients with cervical dystonia (CD) show more subtle deficits in static and dynamic balance as well as learning a whole body…Start React Paradigm In Patients With Cervical Dystonia
Objective: Compare StartReact paradigm in cervical dystonia (CD) patients compared to matched healthy participants. Background: The voluntary response to vestibular stimulation is enhanced in CD…Prevalence of focal task specific lower extremity dystonia symptoms in runners
Objective: The objective of this study was to survey a group of self-identified runners to determine the prevalence of symptoms suspected to be lower extremity…Paroxysmal kinesigenic dyskinesia successfully treated with lamotrigine –description of 2 cases
Objective: To present 2 cases of our patients with paroxysmal kinesigenic dyskinesias (PKD) , who had intolerance or ineffectiveness of carbamazepine (CBZ), and presented good…Mortality from Parkinson’s disease in China: Findings from a Ten-year follow up study in Shanghai
Objective: To examine the outcome, including overall and cause-specific mortality, of PD patients subsequent to 10 years of surveillance in Shanghai, China. This is an…Cerebrospinal fluid proteomics reveals alterations of the renin-angiotensin system in Huntington’s disease
Objective: To identify new biomarkers of disease stage in HD. Background: Proteomic approaches for CSF studies in Huntington’s disease (HD) have so far yielded limited…Neurofilament light protein: An emerging clinical and translational biofluid biomarker for Huntington’s disease
Objective: To investigate whether neurofilament light protein (NfL) a potential prognostic marker of neurodegeneration with Huntington’s disease. Background: NfL, a component of the axonal cytoskeleton,…
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