Publications by authors named "L Kalaydjieva"
Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the , SGCB, and genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigrees.
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- * A systematic review involved ten studies with nearly 19,000 participants, concluding that the burden of CNVs does not correlate with general cognitive performance.
- * However, specific schizophrenia-associated CNVs were linked to poorer verbal recall and perceptual reasoning abilities in individuals with psychotic disorders and their relatives, suggesting they may serve as biomarkers for cognitive impairment and increased disease risk.
Background: There is increasing evidence for shared genetic susceptibility between schizophrenia and bipolar disorder. Although genetic variants only convey subtle increases in risk individually, their combination into a polygenic risk score constitutes a strong disease predictor.AimsTo investigate whether schizophrenia and bipolar disorder polygenic risk scores can distinguish people with broadly defined psychosis and their unaffected relatives from controls.
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