Author Ohlenbusch, Andreas

• 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 Mutation, 15(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 Research, 52(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) 
  Neurology, 61(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) - Bioenergetics, 1657 ​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) - Bioenergetics, 1657 ​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) 
  Neuropediatrics, 35(5) pp. 267​-273​.​ DOI: https://doi.org/10.1055/s-2004-821174 
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• 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) 
  Neuropediatrics, 36(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) 
  Neuropediatrics, 37(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 Gesellschaft, 10(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 Dermatology, 21(3) ​39th Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung (ADF)​, Marburg, GERMANY.
  Malden​: Wiley-blackwell.
  ​Details  WoS 

• 2012 | Journal Article
  ​ ​Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study​
  Ding, X.-Q.; Bley, A.; Ohlenbusch, A.; Kohlschuetter, A.; Fiehler, J.; Zhu, W. & Lanfermann, H.​ (2012) 
  Journal of Magnetic Resonance Imaging, 35(4) pp. 926​-932​.​ DOI: https://doi.org/10.1002/jmri.23517 
  ​Details  DOI  PMID  PMC  WoS 

• 2013 | Conference Abstract
  ​ ​Functional and molecular genetic analyses of 9 newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes​
  Emmert, S.; Schaefer, A.; Gratchev, A.; Seebode, C.; Hofmann, L.; Schubert, S. & Laspe, P. et al.​ (2013)
  JDDG Journal der Deutschen Dermatologischen Gesellschaft, 11(9) 
  Hoboken​: Wiley-blackwell.
  ​Details  WoS 

• 2013 | Conference Abstract
  ​ ​Characterization of 3 novel XPG-defective patients identifies 3 missense mutations that impair repair and transcription​
  Schaefer, A.; Schubert, S.; Gratchev, A.; Apel, A.; Laspe, P.; Hofmann, L. & Ohlenbusch, A. et al.​ (2013)
  Journal of Investigative Dermatology, 133 ​International Investigative Dermatology Meeting​, Edinburgh, SCOTLAND.
  New york​: Nature Publishing Group.
  ​Details  WoS 

• 2013 | Conference Abstract
  ​ ​Functional molecular-genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations​
  Schaefer, A.; Hofmann, L.; Gratchev, A.; Laspe, P.; Schubert, S.; Schuerer, A. & Ohlenbusch, A. et al.​ (2013)
  Experimental Dermatology, 22(3) pp. E21​-E22. ​40th Annual Meeting of the Association-of-Dermatological-Research​, Dessau, GERMANY.
  Hoboken​: Wiley-blackwell.
  ​Details  WoS 

• 2013 | Journal Article
  ​ ​Characterization of Three XPG-Defective Patients Identifies Three Missense Mutations that Impair Repair and Transcription​
  Schaefer, A.; Schubert, S.; Gratchev, A.; Seebode, C.; Apel, A.; Laspe, P. & Hofmann, L. et al.​ (2013) 
  Journal of Investigative Dermatology, 133(7) pp. 1841​-1849​.​ DOI: https://doi.org/10.1038/jid.2013.54 
  ​Details  DOI  PMID  PMC  WoS 

• 2013 | Journal Article
  ​ ​Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations​
  Schaefer, A.; Hofmann, L.; Gratchev, A.; Laspe, P.; Schubert, S.; Schuerer, A. & Ohlenbusch, A. et al.​ (2013) 
  Experimental Dermatology, 22(1) pp. 24​-29​.​ DOI: https://doi.org/10.1111/exd.12052 
  ​Details  DOI  PMID  PMC  WoS 

• 2013 | Journal Article
  ​ ​Acute onset of adult Alexander disease​
  Schmidt, H.; Kretzschmar, B.; Lingor, P.; Pauli, S.; Schramm, P.; Otto, M. & Ohlenbusch, A. et al.​ (2013) 
  Journal of the Neurological Sciences, 331(1-2) pp. 152​-154​.​ DOI: https://doi.org/10.1016/j.jns.2013.05.006 
  ​Details  DOI  PMID  PMC  WoS 

• 2013 | Journal Article
  ​ ​Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes​
  Schaefer, A.; Gratchev, A.; Seebode, C.; Hofmann, L.; Schubert, S.; Laspe, P. & Apel, A. et al.​ (2013) 
  Experimental Dermatology, 22(7) pp. 486​-489​.​ DOI: https://doi.org/10.1111/exd.12166 
  ​Details  DOI  PMID  PMC  WoS 

• 2014 | Conference Abstract
  ​ ​An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype​
  Lehmann, J.; Schubert, S.; Schaefer, A.; Apel, A.; Laspe, P.; Schiller, S. & Ohlenbusch, A. et al.​ (2014)
  Experimental Dermatology, 23(3) ​41st Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung (ADF)​, Cologne, GERMANY.
  Hoboken​: Wiley-blackwell.
  ​Details  WoS 

• 2014 | Conference Abstract
  ​ ​A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype​
  Lehmann, J.; Schubert, S.; Schaefer, A.; Laspe, P.; Haenssle, H. A.; Ohlenbusch, A. & Gratchev, A. et al.​ (2014)
  JDDG Journal der Deutschen Dermatologischen Gesellschaft, 12 
  Hoboken​: Wiley-blackwell.
  ​Details  WoS 

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