35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
June 2025 in “Frontiers in Immunology” This study reported that anti-Ku-positive patients exhibited heterogeneous muscular features, primarily characterized by necrotizing fibers and vacuolar changes, and suggested that autophagy could be a significant mechanism involved in the pathogenesis.
March 2024 in “Cosmoderma” This review discusses various extra facial esthetic indications of botulinum toxin, like neck rejuvenation and calf slimming, and reports no clinical results; essential tips for each indication are included.
65 citations
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September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
39 citations
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October 2015 in “Case Reports” In this case series, four adults developed severe, disabling multisymptom illness potentially linked to fluoroquinolone use, which persisted and progressed even after discontinuation of the drug.