Clin Park Relat Disord
October 2023
Introduction: Cervical dystonia (CD) presents as a motor disorder but has a number of non-motor features. Studies have demonstrated diverse changes in cognition in patients with CD. The rarity of this disorder, phenotypic heterogeneity, and, in particular, a lack of consistency in cognitive testing measures limits clear definition of cognitive changes in this disorder.
View Article and Find Full Text PDFencodes the SHP2 protein tyrosine phosphatase that activates the mitogen-activated protein kinase (MAPK) pathway upstream of and MEK. /Shp2 somatic mutations occur frequently in Juvenile myelomonocytic leukaemia (JMML); however, the role of mutated in lung cancer tumourigenesis and its utility as a therapeutic target has not been fully addressed. We applied mass-spectrometry-based genotyping to DNA extracted from the tumour and matched the normal tissue of 356 NSCLC patients (98 adenocarcinomas (LUAD) and 258 squamous cell carcinomas (LUSC)).
View Article and Find Full Text PDFAdult-onset idiopathic focal dystonias (AOIFD) are the most common type of dystonia. It has varied expression including multiple motor (depending on body part affected) and non-motor symptoms (psychiatric, cognitive and sensory). The motor symptoms are usually the main reason for presentation and are most often treated with botulinum toxin.
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