Dr. rer. nat. Andreas Ohlenbusch

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unigoe
 

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  • 2020 | Journal Article | 
    ​ ​Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM​
    Schröder, S.; Wieland, B.; Ohlenbusch, A. ; Yigit, G. ; Altmüller, J.; Boltshauser, E. & Dörk, T. et al.​ (2020) 
    American Journal of Medical Genetics Part A, 182(12) pp. 2971​-2975​.​ DOI: https://doi.org/10.1002/ajmg.a.61870 
    ​Details  DOI 
  • 2020 | Journal Article | 
    ​ ​Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity​
    Lazarov, E.; Hillebrand, M.; Schröder, S.; Ternka, K.; Hofhuis, J. ; Ohlenbusch, A.   & Barrantes-Freer, A.  et al.​ (2020) 
    Neurobiology of Disease, 143 pp. 105012​.​ DOI: https://doi.org/10.1016/j.nbd.2020.105012 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​„Vanishing white matter disease“ im Erwachsenenalter​
    Buggle, F.; Ciric, E.; Boujan, T.; Ohlenbusch, A. ; Gärtner, J.   & Grau, A. J.​ (2019) 
    Der Nervenarzt, 90(8) pp. 840​-842​.​ DOI: https://doi.org/10.1007/s00115-019-0693-7 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​
    Pauli, S. ; Altmüller, J.; Schröder, S.; Ohlenbusch, A. ; Dreha-Kulaczewski, S. ; Bergmann, C. & Nürnberg, P. et al.​ (2019) 
    Journal of Medical Genetics, 56(4) pp. 261​-264​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105470 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia​
    Ohlenbusch, A. ; Jung, K. ; Steinfeld, R. ; Gärtner, J.   & Kettwig, M.​ (2018) 
    Journal of Pediatric Genetics, 07(01) pp. 014​-018​.​ DOI: https://doi.org/10.1055/s-0037-1607341 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome​
    Polanowska, K. E.; Dzieżyc, K.; Rosewich, H. ; Ohlenbusch, A.   & Seniów, J. B.​ (2018) 
    Cognitive and Behavioral Neurology, 31(4) pp. 214​-219​.​ DOI: https://doi.org/10.1097/WNN.0000000000000178 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene​
    Stoeck, K.; Psychogios, M. N. ; Ohlenbusch, A. ; Steinfeld, R.   & Schmidt, J. ​ (2016) 
    Journal of Alzheimer's Disease, 51(3) pp. 683​-687​.​ DOI: https://doi.org/10.3233/JAD-150819 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article | Research Paper
    ​ ​Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients​
    Rosewich, H. ; Dechent, P. ; Krause, C. ; Ohlenbusch, A. ; Brockmann, K.   & Gärtner, J. ​ (2016) 
    Journal of Inherited Metabolic Disease, 39(6) pp. 869​-876​.​ DOI: https://doi.org/10.1007/s10545-016-9965-6 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | 
    ​ ​Clinical utility gene card for: Zellweger syndrome spectrum​
    Rosewich, H. ; Waterham, H.; Poll-The, B. T.; Ohlenbusch, A.   & Gärtner, J. ​ (2014) 
    European journal of human genetics : EJHG, 23(8).​ DOI: https://doi.org/10.1038/ejhg.2014.250 
    ​Details  DOI  PMID  PMC 
  • 2014 | Journal Article | Research Paper
    ​ ​The expanding clinical and genetic spectrum of ATP1A3-related disorders​
    Rosewich, H. ; Ohlenbusch, A. ; Huppke, P. ; Schlotawa, L.; Baethmann, M.; Carrilho, I. & Fiori, S. et al.​ (2014) 
    Neurology, 82(11) pp. 945​-955​.​ DOI: https://doi.org/10.1212/WNL.0000000000000212 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | Research Paper
    ​ ​A novel ATP1A3 mutation with unique clinical presentation​
    Rosewich, H. ; Baethmann, M.; Ohlenbusch, A. ; Gärtner, J.   & Brockmann, K. ​ (2014) 
    Journal of the Neurological Sciences, 341(1-2) pp. 133​-135​.​ DOI: https://doi.org/10.1016/j.jns.2014.03.034 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper | 
    ​ ​Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study​
    Rosewich, H. ; Thiele, H.; Ohlenbusch, A. ; Maschke, U.; Altmüller, J.; Frommolt, P. & Zim, B. et al.​ (2012) 
    The Lancet Neurology, 11(9) pp. 764​-773​.​ DOI: https://doi.org/10.1016/S1474-4422(12)70182-5 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper | 
    ​ ​Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency​
    Ohlenbusch, A. ; Edvardson, S.; Skorpen, J.; Bjornstad, A.; Saada, A.; Elpeleg, O. & Gärtner, J.  et al.​ (2012) 
    Orphanet Journal of Rare Diseases, 7 art. 69​.​ DOI: https://doi.org/10.1186/1750-1172-7-69 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper | 
    ​ ​Characterization of two common 5 ' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients​
    Thoms, S. ; Gronborg, S.; Rabenau, J.; Ohlenbusch, A. ; Rosewich, H.   & Gärtner, J. ​ (2011) 
    BMC Medical Genetics, 12 art. 109​.​ DOI: https://doi.org/10.1186/1471-2350-12-109 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper | 
    ​ ​RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection​
    Henneke, M.; Diekmann, S.; Ohlenbusch, A. ; Kaiser, J.; Engelbrecht, V.; Kohlschuetter, A. & Kraetzner, R.  et al.​ (2009) 
    Nature Genetics, 41(7) pp. 773​-775​.​ DOI: https://doi.org/10.1038/ng.398 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Live cell FRET microscopy - Homo-and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3)​
    Hillebrand, M.; Verrier, S. E.; Ohlenbusch, A. ; Schaefer, A.; Soeling, H.-D.; Wouters, F. S.   & Gärtner, J. ​ (2007) 
    Journal of biological chemistry, 282(37) pp. 26997​-27005​.​ DOI: https://doi.org/10.1074/jbc.M702122200 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Rapidly progressive vanishing white matter disease in a child with previously inconspicuous brain MRI​
    Ding, X. -Q.; Goerg, M.; Eckert, B.; Ohlenbusch, A. ; Kohlschuetter, A.; Gärtner, J.   & Zeumer, H.​ (2006) 
    Neuropediatrics, 37(4) pp. 253​-256​.​ DOI: https://doi.org/10.1055/s-2006-924576 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations​
    Rosewich, H. ; Ohlenbusch, A.   & Gärtner, J. ​ (2005) 
    Journal of Medical Genetics, 42(9) art. e58​.​ DOI: https://doi.org/10.1136/jmg.2005.033324 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2​
    Huppke, P. ; Ohlenbusch, A. ; Brendel, C.; Laccone, F.   & Gärtner, J. ​ (2005) 
    American Journal of Medical Genetics, 137A(2) pp. 136​-138​.​ DOI: https://doi.org/10.1002/ajmg.a.30764 
    ​Details  DOI  PMID  PMC  WoS 

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