Author Ohlenbusch, Andreas

1 to 10 of 29 Items
  • 2000 Journal Article
    ​ ​Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia​
    Kugler, W.; Willaschek, C.; Holtz, C.; Ohlenbusch, A.; Laspe, P.; Krugener, R. & Muirhead, H. et al.​ (2000) 
    Human Mutation15(3) pp. 261​-272​.​ DOI: https://doi.org/10.1002/(SICI)1098-1004(200003)15:3<261::AID-HUMU7>3.0.CO;2-T 
    Details  DOI  PMID  PMC  WoS 
  • 2002 Journal Article
    ​ ​Myelin oligodendrocyte gene polymorphisms and childhood multiple sclerosis​
    Ohlenbusch, A.; Pohl, D. & Hanefeld, F.​ (2002) 
    Pediatric Research52(2) art. UNSP 0031-3998/02/5202-0175​.​ DOI: https://doi.org/10.1203/00006450-200208000-00008 
    Details  DOI  PMID  PMC  WoS 
  • 2003 Journal Article
    ​ ​Chlamydia pneumoniae in children with MS - Frequency and quantity of intrathecal antibodies​
    Rostasy, K.; Reiber, H.; Pohl, D.; Lange, P.; Ohlenbusch, A.; Eiffert, H. & Maass, M. et al.​ (2003) 
    Neurology61(1) pp. 125​-128​.​
    Details  PMID  PMC  WoS 
  • 2004 Conference Abstract
    ​ ​Long-surviving Leigh syndrome patients with COX deficiency and SURF1 mutations​
    van Riesen, A. K. J.; Antonicka, H.; Kramer, E.; Ohlenbusch, A.; Shoubridge, E. A. & Wilichowski, E.​ (2004)
    Biochimica et Biophysica Acta (BBA) - Bioenergetics1657 ​6th European Meeting on Mitochondrial Pathology​, Univ Med Ctr Nijmegen, Nijmegen, NETHERLANDS.
    Amsterdam​: Elsevier Science Bv.
    Details  WoS 
  • 2004 Conference Abstract
    ​ ​Familial mitochondrial myopathy and diabetes mellitus due to a rare mtDNA mutation (tRNAGlu 14.709T > C): clinical presentation and therapeutical effects​
    Wilichowski, E.; Bottcher, S.; Ohlenbusch, A.; van Riesen, A. K. J. & Hanefeld, F.​ (2004)
    Biochimica et Biophysica Acta (BBA) - Bioenergetics1657 ​6th European Meeting on Mitochondrial Pathology​, Univ Med Ctr Nijmegen, Nijmegen, NETHERLANDS.
    Amsterdam​: Elsevier Science Bv.
    Details  WoS 
  • 2004 Journal Article
    ​ ​Acute peripheral facial palsy in Lyme disease - A distal neuritis at the infection site​
    Eiffert, H.; Karsten, A.; Schlott, T.; Ohlenbusch, A.; Laskawi, R.; Hoppert, M. & Christen, H.-J.​ (2004) 
    Neuropediatrics35(5) pp. 267​-273​.​ DOI: https://doi.org/10.1055/s-2004-821174 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article
    ​ ​Autoantibodies to human manganese superoxide dismutase (MnSOD) in children with facial palsy due to neuroborreliosis​
    Eiffert, H.; Karsten, A.; Ritter, K.; Ohlenbusch, A.; Schlott, T.; Laskawi, R. & Christen, H.-J.​ (2005) 
    Neuropediatrics36(6) pp. 386​-388​.​ DOI: https://doi.org/10.1055/s-2005-872875 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article
    ​ ​Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation​
    van Riesen, A. K. J.; Antonicka, H.; Ohlenbusch, A.; Shoubridge, E. A. & Wilichowski, E.​ (2006) 
    Neuropediatrics37(2) pp. 88​-94​.​ DOI: https://doi.org/10.1055/s-2006-924227 
    Details  DOI  PMID  PMC  WoS 
  • 2012 Conference Abstract
    ​ ​Characterization of five novel XPG mutations in three XP-G patients: Missense mutations impair repair and transcription​
    Schaefer, A.; Schubert, S.; Gratchev, A.; Apel, A.; Laspe, P.; Hofmann, L. & Ohlenbusch, A. et al.​ (2012)
    JDDG Journal der Deutschen Dermatologischen Gesellschaft10(9) 
    Hoboken​: Wiley-blackwell.
    Details  WoS 
  • 2012 Conference Abstract
    ​ ​Characterization of novel XP-G patients: prognostic assessment on the basis of mutational analysis​
    Schaefer, A.; Gratchev, A.; Laspe, P.; Ohlenbusch, A.; Schubert, S.; Schoen, M. P. & Emmert, S.​ (2012)
    Experimental Dermatology21(3) ​39th Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung (ADF)​, Marburg, GERMANY.
    Malden​: Wiley-blackwell.
    Details  WoS 

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