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| http://dx.doi.org/10.1016/j.jns.2024.122915 | DOI Listing |
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Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy characterized by sensory dysfunction and muscle weakness, manifesting in the most distal limbs first and progressing more proximal. Over a hundred genes are currently linked to CMT with enrichment for activities in myelination, axon transport, and protein synthesis. Mutations in tRNA synthetases cause dominantly inherited forms of CMT and animal models with CMT-linked mutations in these enzymes display defects in neuronal protein synthesis.
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To investigate multi-system involvement in Kennedy's disease and its association with disease progression. We retrospectively reviewed the clinical, laboratory, and electrophysiological data from 48 genetically confirmed patients with Kennedy's disease at the Department of Neurology, First Medical Center of the Chinese PLA General Hospital, between February 2016 and February 2024. The disease progression rate was calculated based on the functional scores at baseline and follow-up.
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View Article and Find Full Text PDFIncreased all-cause mortality following proximal humerus fractures in Danish adults: a register-based matched cohort study of 93,952 fracture cases and 469,760 controls.
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Unlabelled: Mortality after proximal humerus fractures (PHF) has received less attention compared to hip fractures. We found higher all-cause mortality among PHF patients in Denmark compared to matched controls, with the highest rates within 30 days post-fracture, especially in men. Further research is needed to identify factors associated with this increased mortality.
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