Publications by authors named "Tamara Barcos-Rodriguez"
Article Synopsis
- Sporadic inclusion body myositis (sIBM) is a type of inflammatory muscle disease that shares molecular features with Alzheimer's disease (AD) and Type 2 Diabetes Mellitus (T2DM), suggesting potential connections between these conditions.
- A study involving 14 sIBM patients analyzed cognitive function, brain imaging, and various biomarkers to assess comorbidity with AD and T2DM, but found no signs of AD comorbidity.
- Results indicated that sIBM patients had imbalances in glucose metabolism, with laboratory tests showing impaired respiratory function and increased reliance on anaerobic metabolism in sIBM fibroblasts under different glucose conditions.
Recessive mutations are associated with a severe neurodevelopmental disorder (OMIM: 616756). However, the physiopathologycal bases of the disease are yet to be completely clarified. Whole-exome sequencing identified homozygous mutations (c.
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