• Adult-Onset Ataxia with Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant 

      Paucar, Martin; Tesi, Bianca; Eshtad, Saeed; Eriksson, Caroline; Hashim, Farouk; Nilsson, Daniel; Pourhamidi, Kaveh; Hellström-Lindberg, Eva; Bryceson, Yenan; Svenningsson, Per (Journal article; Peer reviewed, 2021)
      Variants in tumor suppressor genes and in genes encoding DNA repairing proteins are associated with syndromes conferring neurologic features and increased risk for malignancy. The best example for these conditions is ...
    • Limited clinical efficacy of azacitidine in transfusion-dependent, growth factor-resistant, low- and Int-1-risk MDS: Results from the nordic NMDSG08A phase II trial 

      Tobiasson, Magnus; Dybedal, Ingunn; Holm, Mette Skov; Karimi, Mohsen; Brandefors, Lena; Garelius, Hege; Grövdal, Michael; Høgh-Dufva, Inge; Grønbæk, Kirsten; Jansson, Monika; Marcher, Vlaus Werenberg; Nilsson, Lars Håkan; Kittang, Astrid Marta Olsnes; Porwit, Anna; Saft, Leonie; Möllgård, Lars; Hellström-Lindberg, Eva (Peer reviewed; Journal article, 2014)
      This prospective phase II study evaluated the efficacy of azacitidine (Aza)+erythropoietin (Epo) in transfusion-dependent patients with lower-risk myelodysplastic syndrome (MDS). Patients ineligible for or refractory to ...