In collaboration with the Franch partners we identified the gene – LMNA for the Heart-hand syndrome of Slovenian type. This finding makes possible accurate diagnosis and prevention of the most serious complication of the disease – sudden hearth death.
COBISS.SI-ID: 19026396
We have for the first time estimated the prevalence of the Huntington’s disease in Slovenia (5.6 / 100 000) and reported that a higher proportion of individuals at risk for HD decide on predictive mutational testing as compared with the estimated numbers for Europe, United States, Canada and Australia.
COBISS.SI-ID: 18976322