Prof. Dr. med. Ekkehard Wilichowski

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  • 2021 | Journal Article | Research Paper
    ​ ​Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes​
    Yap, Z. Y.; Park, Y. H.; Wortmann, S. B.; Gunning, A. C.; Ezer, S.; Lee, S. & Duraine, L. et al.​ (2021) 
    Genome Medicine, 13(1) art. 55​.​ DOI: https://doi.org/10.1186/s13073-021-00873-3 
    ​Details  DOI 
  • 2021 | Journal Article | 
    ​ ​Making sense of missense variants in TTN-related congenital myopathies​
    Rees, M.; Nikoopour, R.; Fukuzawa, A.; Kho, A. L.; Fernandez-Garcia, M. A.; Wraige, E. & Bodi, I. et al.​ (2021) 
    Acta Neuropathologica, 141(3) pp. 431​-453​.​ DOI: https://doi.org/10.1007/s00401-020-02257-0 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy​
    Villar-Quiles, R. N.; von der Hagen, M.; Métay, C.; Gonzalez, V.; Donkervoort, S.; Bertini, E. & Castiglioni, C. et al.​ (2020) 
    Neurology, 95(11) pp. e1512​-e1527​.​ DOI: https://doi.org/10.1212/WNL.0000000000010327 
    ​Details  DOI 
  • 2020 | Journal Article | 
    ​ ​Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: ​Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V.​
    Ziegler, A.; Wilichowski, E. ; Schara, U.; Hahn, A. ; Müller-Felber, W.; Johannsen, J. & von der Hagen, M. et al.​ (2020) 
    Der Nervenarzt, 91(6) pp. 518​-529​.​ DOI: https://doi.org/10.1007/s00115-020-00919-8 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​P.234Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features​
    Rees, M.; Fukuzawa, A.; Nikoopour, R.; Kho, A.; Qi, J.; Fernandez-Garcia, M. & Wraige, E. et al.​ (2019) 
    Neuromuscular Disorders, 29 pp. S135​.​ DOI: https://doi.org/10.1016/j.nmd.2019.06.348 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Aktuelle therapeutische Möglichkeiten bei Muskeldystrophien​
    Müller-Felber, W. & Wilichowski, E. ​ (2019) 
    Pädiatrie & Pädologie, 54(6) pp. 262​-269​.​ DOI: https://doi.org/10.1007/s00608-019-00723-x 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Paralog Studies Augment Gene Discovery: DDX and DHX Genes​
    Paine, I.; Posey, J. E.; Grochowski, C. M.; Jhangiani, S. N.; Rosenheck, S.; Kleyner, R. & Marmorale, T. et al.​ (2019) 
    The American Journal of Human Genetics, 105(2) pp. 302​-316​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.06.001 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Aktuelle therapeutische Möglichkeiten bei Muskeldystrophien​
    Müller-Felber, W. & Wilichowski, E. ​ (2019) 
    Monatsschrift Kinderheilkunde, 167(4) pp. 292​-298​.​ DOI: https://doi.org/10.1007/s00112-019-0675-7 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Combination of microdissection and single cell quantitative real-time PCR revealed intercellular mitochondrial DNA heterogeneities in fibroblasts of Kearns-Sayre syndrome patients​
    Kummer, S. & Wilichowski, E. ​ (2018) 
    Mitochondrion, 43 pp. 37​-42​.​ DOI: https://doi.org/10.1016/j.mito.2018.08.004 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)​
    Wambach, J. A.; Stettner, G. M.; Haack, T. B.; Writzl, K.; Škofljanec, A.; Maver, A. & Munell, F. et al.​ (2017) 
    Human Mutation, 38(11) pp. 1477​-1484​.​ DOI: https://doi.org/10.1002/humu.23297 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Submandibuläre Lymphknotenschwellung bei einem 3‑jährigen Mädchen​
    von Fintel, H.; Wilichowski, E.   & Eiffert, H. ​ (2017) 
    Monatsschrift Kinderheilkunde, 166(1) pp. 10​-13​.​ DOI: https://doi.org/10.1007/s00112-017-0412-z 
    ​Details  DOI 
  • 2009 | Journal Article | 
    ​ ​Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation​
    Auber, B.; Bruemmer, V.; Zoll, B.; Burfeind, P.; Boehm, D.; Liehr, T. & Brockmann, K. et al.​ (2009) 
    Molecular Cytogenetics, 2 art. 10​.​ DOI: https://doi.org/10.1186/1755-8166-2-10 
    ​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 Pediatrics, 164(5) pp. 306​-310​.​ DOI: https://doi.org/10.1007/s00431-004-1602-y 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​Stroke-like pattern in DTI and MRS of childhood mitochondrial leukoencephalopathy​
    Brockmann, K. ; Finsterbusch, J.; Schara, U.; Wilichowski, E. ; Frahm, J.   & Hanefeld, F.​ (2004) 
    Neuroradiology, 46(4) pp. 267​-271​.​ DOI: https://doi.org/10.1007/s00234-004-1181-7 
    ​Details  DOI  PMID  PMC  WoS 

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