Author Ohlenbusch, Andreas
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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
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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
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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.
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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.
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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.
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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
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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
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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.
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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.
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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
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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.
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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.
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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.
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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
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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
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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
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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
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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.
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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.
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