Brage S. Andresen

Overview

Best Publications

• ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

  Rikke K J Olsen;Simon E Olpin;Brage S Andresen;Zofia H Miedzybrodzka

  341
  Citations

• Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

  Brage Storstein Andresen;Brage Storstein Andresen;Simon Olpin;Ben J.H.M. Poorthuis;Hans R. Scholte

  336
  Citations

• Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

  Brage Storstein Andresen;Brage Storstein Andresen;Steve F. Dobrowolski;Linda O'Reilly;Joseph Muenzer

  323
  Citations

• Protein misfolding and degradation in genetic diseases

  Peter Bross;Thomas Juhl Corydon;Brage S. Andresen;Brage S. Andresen;Malene Munk Jørgensen

  303
  Citations

• Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

  Rikke K.J. Olsen;Brage S. Andresen;Brage S. Andresen;Ernst Christensen;Peter Bross

  246
  Citations

• Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.

  Niels Gregersen;Brage S. Andresen;Brage S. Andresen;Morten J. Corydon;Thomas J. Corydon

  220
  Citations

• CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay

  Akio Masuda;Henriette Skovgaard Andersen;Thomas Koed Doktor;Takaaki Okamoto

  207
  Citations

• Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer

  Karsten Bork Nielsen;Suzette Sørensen;Luca Cartegni;Thomas Juhl Corydon

  204
  Citations

• Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

  Caroline Heintz;Thomas Koed Doktor;Anne Lanjuin;Caroline C. Escoubas

  184
  Citations

• Identification of Four New Mutations in the Short-Chain Acyl-CoA Dehydrogenase (SCAD) Gene in Two Patients: One of the Variant Alleles, 511C→T, is Present at an Unexpectedly High Frequency in the General Population, as Was the Case for 625G→A, Together Conferring Susceptibility to Ethylmalonic Aciduria

  Niels Gregersen;Vibeke S. Winter;Morten J. Corydon;Thomas J. Corydon

  171
  Citations

• Mitochondrial fatty acid oxidation defects—remaining challenges

  Niels Gregersen;Brage S. Andresen;Christina B. Pedersen;Rikke K. J. Olsen

  162
  Citations

• Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene

  Brage Storstein Andresen;Peter Bross;Christine Vianey-Saban;Priscille Divry

  156
  Citations

• The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

  Brage Storstein Andresen;Peter Bross;Szabolcs Udvari;Szabolcs Udvari;Jean Kirk

  148
  Citations

• The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

  Christina B. Pedersen;Steen Kølvraa;Agnete Kølvraa;Vibeke Stenbroen

  136
  Citations

• Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

  Niels Gregersen;Peter Bross;Brage S. Andresen;Brage S. Andresen

  132
  Citations

• Sequence analysis of the Epstein-Barr Virus (EBV) latent membrane protein -1 gene and promoter region: identification of four variants among wild-type EBV isolates

  Kristian Sandvej;Jan W. Gratama;Mette Munch;Xiao-Ge Zhou

  127
  Citations

• Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme

  Peter Bross;Charlotte Jespersen;Thomas G. Jensen;Brage S. Andresen

  121
  Citations

• Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

  Niels Gregersen;Alexandra I.F. Blakemore;Vibeke Winter;Brage Andresen

  120
  Citations

• VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

  A Boneh;Brage Storstein Andresen;Niels Gregersen;M Ibrahim

  116
  Citations

• Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase

  M J Corydon;N Gregersen;W Lehnert;A Ribes

  115
  Citations