• Hereditary thrombotic thrombocytopenic purpura and COVID-19: Impacts of vaccination and infection in this rare disease 

      Tarasco, Erika; von Krogh, Anne Sophie; Hrdlickova, Radomira; Braschler, Thomas R.; Iwaniec, Teresa; Knöbl, Paul N.; Hamada, Eriko; Pikovsky, Oleg; Farese, Stefan; Gutwein, Odit; Kessler, Petr; Schultz, Nina Haagenrud; von Auer, Charis; Windyga, Jerzy; Friedman, Kenneth; Hrachovinova, Ingrid; George, James N.; Matsumoto, Masanori; Schneppenheim, Reinhard; Lämmle, Bernhard; Kremer Hovinga, Johanna Anna (Peer reviewed; Journal article, 2022)
      1 Introduction Severe COVID‐19 is associated with an important increase of von Willebrand factor and mild lowering of ADAMTS13 activity that may, in the presence of a strong inflammatory reaction, increase the risk of ...
    • Improved 6-year overall survival in AT/RT – results of the registry study Rhabdoid 2007 

      Bartelheim, Kerstin; Nemes, Karolina; Seeringer, Angela; Kerl, Kornelius; Buechner, Jochen; Boos, Joachim; Graf, Norbert; Durken, Matthias; Gerss, Joachim; Hasselblatt, Martin; Kortmann, Rolf-Dieter; Teichert von Luettichau, Irene; Nagel, Inga; Nygaard, Randi; Oyen, Florian; Quiroga, Eduardo; Schlegel, Paul-Gerhardt; Schmid, Irene; Schneppenheim, Reinhard; Siebert, Reiner; Solano-Paez, Palma; Timmermann, Beate; Warmuth-Metz, Monika; Fruhwald, Michael Christoph (Peer reviewed; Journal article, 2016)
      A typical teratoid rhabdoid tumors (AT/RT) are characterized by mutations and subsequent inactivation of SMARCB1 (INI1, hSNF5), a predilection for very young children and an unfavorable outcome. The European Registry for ...
    • The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017 

      van Dorland, Hendrika; Taleghani, Magnus Mansouri; Sakai, Kazuya; Friedman, Ken; George, James N.; Hrachovinova, Ingrid; Knobl, Paul N.; von Krogh, Anne Sophie; Schneppenheim, Reinhard; Aebi-Huber, Isabella; Bütikofer, Lukas; Largadier, Carlo; Cermakova, Zusana; Kokame, Koichi; Miyata, Toshiyuki; Yagi, Hideo; Vesely, Sara K.; Terrell, Deirdra; Matsumoto, Masanori; Lämmle, Bernhard; Fujimura, Yoshihiro; Kremer Hovinga, Johanna A (Journal article; Peer reviewed, 2019)
      Congenital thrombotic thrombocytopenic purpura is an autosomal recessive inherited disease with a clinically heterogeneous course and an incompletely understood genotype-phenotype correlation. In 2006, the Hereditary TTP ...