Niels Gregersen

Overview

Best Publications

• α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

  Jens Mogensen;Ib C. Klausen;Anders K. Pedersen;Henrik Egeblad

  508
  Citations

• Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.

  Jens Jacob Hansen;Alexandra Dürr;Isabelle Cournu-Rebeix;Costa Georgopoulos

  451
  Citations

• Oligonucleotide-priming methods for the chromosome-specific labelling of alpha satellite DNA in situ.

  Jørn E. Koch;Steen Kølvraa;Kirsten B. Petersen;Niels Gregersen

  419
  Citations

• Protein Misfolding and Human Disease

  Niels Gregersen;Peter Gerd Bross;Søren Vang;Jane Hvarregaard Christensen

  389
  Citations

• 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

• A sequence variation: 713-8delC in the transforming growth factor-beta 1 gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased bone turnover in both osteoporotic and normal women

  B.L. Langdahl;J.Y. Knudsen;H.K. Jensen;N. Gregersen

  322
  Citations

• Protein misfolding and degradation in genetic diseases

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

  303
  Citations

• One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi

  Niels S. Rüdiger;Niels Gregersen;Morten C. Kielland-Brandt

  286
  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

• In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.

  S. Kølvraa;N. Gregersen;E. Christensen;N. Hobolth

  221
  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

• Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter

  Jens J Hansen;Peter Bross;Majken Westergaard;Marit Nyholm Nielsen

  206
  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

• Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.

  S. Rittig;G. L. Robertson;C. Siggaard;L. Kovács

  199
  Citations

• Protein Misfolding and Cellular Stress: An Overview

  Niels Gregersen;Niels Gregersen;Peter Bross;Peter Bross

  173
  Citations

• Protein Misfolding and Disease

  Peter Bross;Niels Gregersen

  172
  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

• The Metabolic and Molecular Basis of Inherited Disease: Protein Folding and Misfolding: the Role of Cellular Protein Quality Control Systems in Inherited Disorders

  Peter Bross;Malene Munk Jørgensen;Niels Gregersen

  1
  Citations