Dr. med. Hendrik Rosewich

 
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  • 2021 Journal Article | Research Paper | 
    ​ ​LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders​
    Klemp, H. G.; Kettwig, M.; Streit, F. ; Gärtner, J. ; Rosewich, H.   & Krätzner, R. ​ (2021) 
    Metabolites11(6) pp. 347​.​ DOI: https://doi.org/10.3390/metabo11060347 
    Details  DOI  PMID  PMC 
  • 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 Disease143 pp. 105012​.​ DOI: https://doi.org/10.1016/j.nbd.2020.105012 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​B cell depletion can be effective in multiple sclerosis but failed in a patient with advanced childhood cerebral X-linked adrenoleukodystrophy​
    Rosewich, H. ; Nessler, S. ; Brück, W.   & Gärtner, J. ​ (2019) 
    Therapeutic Advances in Neurological Disorders12.​ DOI: https://doi.org/10.1177/1756286419868133 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​Inborn errors of metabolism leading to neuronal migration defects​
    Schiller, S. ; Rosewich, H. ; Grünewald, S. & Gärtner, J. ​ (2019) 
    Journal of Inherited Metabolic Disease43(1) pp. 145​-155​.​ DOI: https://doi.org/10.1002/jimd.12194 
    Details  DOI 
  • 2018 Journal Article
    ​ ​The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management​
    Tranebjærg, L.; Strenzke, N. ; Lindholm, S.; Rendtorff, N. D.; Poulsen, H.; Khandelia, H. & Kopec, W. et al.​ (2018) 
    Human Genetics137(2) pp. 111​-127​.​ DOI: https://doi.org/10.1007/s00439-017-1862-z 
    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 Neurology31(4) pp. 214​-219​.​ DOI: https://doi.org/10.1097/WNN.0000000000000178 
    Details  DOI 
  • 2018 Journal Article | Research Paper | 
    ​ ​Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes​
    Soliman, K.; Göttfert, F. ; Rosewich, H. ; Thoms, S.   & Gärtner, J. ​ (2018) 
    Scientific Reports8(1) art. 7809​.​ DOI: https://doi.org/10.1038/s41598-018-24119-2 
    Details  DOI  PMID  PMC 
  • 2017 Journal Article
    ​ ​Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders​
    Rosewich, H. ; Sweney, M. T.; DeBrosse, S.; Ess, K.; Ozelius, L.; Andermann, E. & Andermann, F. et al.​ (2017) 
    Neurology Genetics3(2) pp. e139​.​ DOI: https://doi.org/10.1212/NXG.0000000000000139 
    Details  DOI 
  • 2016 Journal Article
    ​ ​Peroxisomal protein PEX 13 functions in selective autophagy​
    Lee, M. Y; Sumpter, R.; Zou, Z.; Sirasanagandla, S.; Wei, Y.; Mishra, P. & Rosewich, H.  et al.​ (2016) 
    EMBO reports18(1) pp. 48​-60​.​ DOI: https://doi.org/10.15252/embr.201642443 
    Details  DOI 
  • 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 Disease39(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 : EJHG23(8).​ DOI: https://doi.org/10.1038/ejhg.2014.250 
    Details  DOI  PMID  PMC 
  • 2014 Book Chapter
    ​ ​Peroxisomale Störungen​
    Rosewich, H.  & Gärtner, J. ​ (2014)
    In:​Dahl, S. v.; Lammert, F.; Ullrich, K.; Wendel, U.​ (Eds.), Angeborene Stoffwechselkrankheiten bei Erwachsenen pp. 449​-460. ​Berlin, Heidelberg: ​Springer. DOI: https://doi.org/10.1007/978-3-642-45188-1_49 
    Details  DOI 
  • 2014 Book Chapter
    ​ ​Peroxisomale Krankheiten​
    Gärtner, J.  & Rosewich, H. ​ (2014)
    In:​vom Dahl, S.; Lammert, F.; Ullrich, K.; Wendel, U.​ (Eds.), Angeborene Stoffwechselkrankheiten bei Erwachsenen pp. 563​-569. ​Berlin: ​Springer.
    Details 
  • 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) 
    Neurology82(11) pp. 945​-955​.​ DOI: https://doi.org/10.1212/WNL.0000000000000212 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper
    ​ ​Clinical presentation of pediatric multiple sclerosis before puberty​
    Huppke, B. ; Ellenberger, D. ; Rosewich, H. ; Friede, T. ; Gärtner, J.   & Huppke, P. ​ (2014) 
    European Journal of Neurology21(3) pp. 441​-446​.​ DOI: https://doi.org/10.1111/ene.12327 
    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 Sciences341(1-2) pp. 133​-135​.​ DOI: https://doi.org/10.1016/j.jns.2014.03.034 
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article | Research Paper
    ​ ​Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis​
    Krause, C. ; Rosewich, H. ; Woehler, A. & Gärtner, J. ​ (2013) 
    Human Molecular Genetics22(19) pp. 3844​-3857​.​ DOI: https://doi.org/10.1093/hmg/ddt238 
    Details  DOI  PMID  PMC  WoS 
  • 2012 Journal Article | Research Paper
    ​ ​Identification of a New Fatty Acid Synthesis-Transport Machinery at the Peroxisomal Membrane​
    Hillebrand, M.; Gersting, S. W.; Lotz-Havla, A. S.; Schaefer, A.; Rosewich, H. ; Valerius, O.   & Muntau, A. C. et al.​ (2012) 
    Journal of biological chemistry287(1) pp. 210​-221​.​ DOI: https://doi.org/10.1074/jbc.M111.272732 
    Details  DOI  PMID  PMC  WoS 
  • 2012 Journal Article | Research Paper
    ​ ​MicroRNA regulation in experimental autoimmune encephalomyelitis in mice and marmosets resembles regulation in human multiple sclerosis lesions​
    Lescher, J.; Paap, F.; Schultz, V. ; Redenbach, L.; Scheidt, U. ; Rosewich, H.   & Nessler, S.  et al.​ (2012) 
    Journal of Neuroimmunology246(1-2) pp. 27​-33​.​ DOI: https://doi.org/10.1016/j.jneuroim.2012.02.012 
    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 Neurology11(9) pp. 764​-773​.​ DOI: https://doi.org/10.1016/S1474-4422(12)70182-5 
    Details  DOI  PMID  PMC  WoS 
  • 2011 Journal Article
    ​ ​Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders​
    Grønborg, S.; Krätzner, R. ; Rosewich, H.   & Gärtner, J. ​ (2011) 
    JIMD reports1 pp. 29​-36​.​ DOI: https://doi.org/10.1007/8904_2011_12 
    Details  DOI  PMID  PMC 
  • 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 Genetics12 art. 109​.​ DOI: https://doi.org/10.1186/1471-2350-12-109 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Research Paper | 
    ​ ​Rational diagnostic strategy for Zellweger syndrome spectrum patients​
    Krause, C. ; Rosewich, H.   & Gärtner, J. ​ (2009) 
    European Journal of Human Genetics17(6) pp. 741​-748​.​ DOI: https://doi.org/10.1038/ejhg.2008.252 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Conference Paper | Research Paper
    ​ ​Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients​
    Weller, S.; Rosewich, H.   & Gärtner, J. ​ (2008)
    ​Journal of Inherited Metabolic Disease (2) pp. 270​-280. (Vol. 31). ​44th Annual Symposium of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism​, Hamburg, GERMANY.
    Dordrecht​: Springer. DOI: https://doi.org/10.1007/s10545-008-0856-3 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect​
    Rosewich, H. ; Waterham, H. R.; Wanders, R. J. A.; Ferdinandusse, S.; Henneke, M.; Hunneman, D. H.   & Gärtner, J. ​ (2006) 
    Neuropediatrics37(2) pp. 95​-98​.​ DOI: https://doi.org/10.1055/s-2006-923943 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis​
    Jerkic, S.; Rosewich, H. ; Scharf, J. G.; Perske, C. ; Fuzesi, L.; Wilichowski, E.   & Gärtner, J. ​ (2005) 
    European Journal of Pediatrics164(5) pp. 306​-310​.​ DOI: https://doi.org/10.1007/s00431-004-1602-y 
    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 Genetics42(9) art. e58​.​ DOI: https://doi.org/10.1136/jmg.2005.033324 
    Details  DOI  PMID  PMC  WoS 

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