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List of works by Atze J Bergsma

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

scientific article published on 16 September 2020

A central role for TFIID in the pluripotent transcription circuitry

scientific article published on 17 March 2013

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease

scientific article published on 09 November 2020

A genetic modifier of symptom onset in Pompe disease

scientific article published on 25 March 2019

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options

scientific article published on 12 September 2017

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

scientific article

Characterization and dynamics of pericentromere-associated domains in mice

scientific article

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

scientific article published on 08 November 2020

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

scientific article published on 29 July 2019

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

scientific article published on 13 September 2016

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

scientific article

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach

scientific article

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

scientific article published on 13 January 2020

Opportunities and challenges for antisense oligonucleotide therapies

scientific article published on 11 May 2020

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