Resultats de la cerca - Pakdaman, Yasaman
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In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins per Pakdaman, Yasaman, Sanchez-Guixé, Monica, Kleppe, Rune, Erdal, Sigrid, Bustad, Helene J., Bjørkhaug, Lise, Haugarvoll, Kristoffer, Tzoulis, Charalampos, Heimdal, Ketil, Knappskog, Per M., Johansson, Stefan, Aukrust, Ingvild
Publicat 2017Text -
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Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish per Pakdaman, Yasaman, Denker, Elsa, Austad, Eirik, Norton, William H. J., Rolfsnes, Hans O., Bindoff, Laurence A., Tzoulis, Charalampos, Aukrust, Ingvild, Knappskog, Per M., Johansson, Stefan, Ellingsen, Ståle
Publicat 2021Text -
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Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 per Pakdaman, Yasaman, Berland, Siren, Bustad, Helene J., Erdal, Sigrid, Thompson, Bryony A., James, Paul A., Power, Kjersti N., Ellingsen, Ståle, Krooni, Martin, Berge, Line I., Sexton, Adrienne, Bindoff, Laurence A., Knappskog, Per M., Johansson, Stefan, Aukrust, Ingvild
Publicat 2021Text