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List of works by Maja Dembic

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

scientific article published on 2 November 2017

Cell-specific expression of the epm1 (cystatin B) gene in developing rat cerebellum.

scientific article

Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family.

scientific article

Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo.

scientific article

Establishment and characterization of murine small cell lung carcinoma cell lines derived from HPV-16 E6/E7 transgenic mice.

scientific article

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

scientific article

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease

scientific article published on 22 October 2018

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

scientific article published on 23 August 2016

The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

scientific article

The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote

scientific article

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