Blar i Bergen Open Research Archive på forfatter "Eshtad, Saeed"
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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 ...