Thomas J. Corydon

Overview

Best Publications

• 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

• The role of SOX family members in solid tumours and metastasis.

  Daniela Grimm;Daniela Grimm;Johann Bauer;Petra Wise;Marcus Krüger

  328
  Citations

• Protein misfolding and degradation in genetic diseases

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

  303
  Citations

• Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition

  Laura B. Ramsey;Gitte H. Bruun;Wenjian Yang;Lisa R. Treviño

  275
  Citations

• The impact of microgravity on bone in humans.

  Daniela Grimm;Jirka Grosse;Markus Wehland;Vivek Mann

  248
  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

• 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 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

• 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

• Update on the keratoconus genetics.

  Kim Nielsen;Jesper Hjortdal;Maria Pihlmann;Thomas J. Corydon

  122
  Citations

• Alterations of the cytoskeleton in human cells in space proved by life-cell imaging.

  Thomas J. Corydon;Sascha Kopp;Markus Wehland;Markus Braun

  121
  Citations

• Human Acyl-CoA Dehydrogenase-9 Plays a Novel Role in the Mitochondrial β-Oxidation of Unsaturated Fatty Acids

  Regina Ensenauer;Regina Ensenauer;Miao He;Jan Marie Willard;Eric S. Goetzman

  118
  Citations

• Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.

  Charlotte Siggaard;Søren Rittig;Thomas J. Corydon;Per Hove Andreasen

  109
  Citations

• Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice

  Jane H. Christensen;Jane H. Christensen;Marit N. Nielsen;Jakob Hansen;Annette Füchtbauer

  108
  Citations

• Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism

  Brage Storstein Andresen;Brage Storstein Andresen;Ernst Christensen;Thomas J. Corydon;Peter Bross

  104
  Citations

• The Hsp60-(p.V98I) Mutation Associated with Hereditary Spastic Paraplegia SPG13 Compromises Chaperonin Function Both in Vitro and in Vivo

  Peter Bross;Søren Naundrup;Jakob Hansen;Marit Nyholm Nielsen

  104
  Citations

• Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder

  Jacob Severinsen;Carsten Bjarkam;Stine Kiær-Larsen;Inger Marie Olsen

  100
  Citations

• Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).

  J. Hansen;T.J. Corydon;J. Palmfeldt;A. Dürr;A. Dürr

  100
  Citations

• Influence of Polymorphic OATP1B-Type Carriers on the Disposition of Docetaxel

  Anne-Joy M. de Graan;Cynthia S. Lancaster;Amanda Obaidat;Bruno Hagenbuch

  98
  Citations