• 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 ...
    • Genetic risk scores and hallucinations in patients with Parkinson disease 

      Kusters, Cynthia D.J.; Paul, Kimberly C.; Folle, Aline Duarte; Keener, Adrienne M.; Bronstein, Jeff M.; Dobricic, Valerija; Tysnes, Ole-Bjørn; Bertram, Lars; Alves, Guido Werner; Sinsheimer, Janet S.; Lill, Christina M.; Maple-Grødem, Jodi; Ritz, Beate R. (Journal article; Peer reviewed, 2020)
      Objective We examine the hypothesized overlap of genetic architecture for Alzheimer disease (AD), schizophrenia (SZ), and Parkinson disease (PD) through the use of polygenic risk scores (PRSs) with the occurrence of ...