Transcriptomics: Open Access
Open Access

Matyas Gabor

Research Interest

Main research interest: Molecular basis of inherited forms of aortic aneurysm as well as pathogenesis and pharmacological therapy of Marfan syndrome and related aortic disorders (e.g. Loeys-Dietz syndrome, familial thoracic aortic aneurysms and dissections, arterial tortuosity syndrome, Ehlers-Danlos syndrome vascular type, aneurysms-osteoarthritis syndrome). • Special fields of interests: (Epi-)Genetics of monogenic (rare) disorders, such as Barth syndrome, dentatorubral-pallidoluysian atrophy, fragile X syndrome, Huntington disease, hereditary lymphedema, myotonic dystrophy type 1, Charcot-Marie-Tooth neuropathy, hereditary neuropathy with liability to pressure palsies, Noonan syndrome, Rett syndrome, hereditary nonsyndromic hearing loss and deafness, spinal muscular atrophy, spinal and bulbar muscular atrophy, spinocerebellar ataxias, as well as techniques to detect mutations and bioinformatics methods to assess unclassified sequence variants.