Author Ohlenbusch, Andreas
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2021 | Journal Article | Research Paper |
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy
Reinert, M.-C.; Pacheu-Grau, D.; Catarino, C. B.; Klopstock, T.; Ohlenbusch, A.; Schittkowski, M. & Wilichowski, E. et al. (2021)
Orphanet Journal of Rare Diseases, 16(1) art. 64. DOI: https://doi.org/10.1186/s13023-021-01690-y
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2021 | Journal Article | Research Paper |
A novel remitting leukodystrophy associated with a variant in FBP2
Gizak, A.; Diegmann, S.; Dreha-Kulaczewski, S.; Wiśniewski, J.; Duda, P.; Ohlenbusch, A. & Huppke, B. et al. (2021)
Brain Communications, 3(2) pp. fcab036. DOI: https://doi.org/10.1093/braincomms/fcab036
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2019 | Journal Article |
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient
Schlotawa, L.; Dierks, T.; Christoph, S.; Cloppenburg, E.; Ohlenbusch, A.; Korenke, G. C. & Gärtner, J. (2019)
JIMD Reports, 49(1) pp. 48-52. DOI: https://doi.org/10.1002/jmd2.12074
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2017 | Journal Article
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
Jaszczuk, I.; Schlotawa, L.; Dierks, T.; Ohlenbusch, A.; Koppenhöfer, D.; Babicz, M. & Lejman, M. et al. (2017)
Molecular Genetics and Metabolism, 121(3) pp. 252-258. DOI: https://doi.org/10.1016/j.ymgme.2017.05.013
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2017 | Journal Article
Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine
Lehmann, J.; Schubert, S.; Seebode, C.; Apel, A.; Ohlenbusch, A. & Emmert, S. (2017)
Oncotarget, 9(1) pp. 1012-1027. DOI: https://doi.org/10.18632/oncotarget.23105
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2016 | Journal Article
A unique chromosomal in-frame deletion identified among seven XP-C patients
Schubert, S.; Rieper, P.; Ohlenbusch, A.; Seebode, C.; Lehmann, J.; Gratchev, A. & Emmert, S. (2016)
Photodermatology Photoimmunology & Photomedicine, 32(5-6) pp. 276-283. DOI: https://doi.org/10.1111/phpp.12251
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2015 | 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.; Ohlenbusch, A.; Gratchev, A. & Emmert, S. (2015)
Anticancer Research, 35(6)
Athens: Int Inst Anticancer Research.
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2015 | Journal Article
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. (2015)
Journal of the European Academy of Dermatology and Venereology, 29(12) pp. 2479-2482. DOI: https://doi.org/10.1111/jdv.12841
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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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2014 | Journal Article | Letter Note
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)
British Journal of Dermatology, 171(4) pp. 903-905. DOI: https://doi.org/10.1111/bjd.13035
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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
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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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
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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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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