• 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 ...
    • Genome-wide Association Analysis of Parkinson’s Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci 

      Smeland, Olav Bjerkehagen; Shadrin, Alexey A.; Bahrami, Shahram; Broce, Iris J.; Tesli, Martin Steen; Frei, Oleksandr; Wirgenes, Katrine Verena; O`Connell, Kevin; Krull, Florian; Bettella, Francesco; Steen, Nils Eiel; Sugrue, Leo P.; Wang, Yunpeng; Svenningsson, Per; Sharma, Manu; Pihlstrøm, Lasse; Toft, H. Mathias S.; O’Donovan, Michael; Djurovic, Srdjan; Desikan, Rahul S; Dale, Anders M.; Andreassen, Ole Andreas (Journal article; Peer reviewed, 2021)
      Background Parkinson’s disease (PD) and schizophrenia (SCZ) are heritable brain disorders that involve dysregulation of the dopaminergic system. Epidemiological studies have reported potential comorbidity between the ...