Rezultati - Susanne Theiß

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  1. 1
    Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

    Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage od Carolina Tängemo, Dominik Weber, Susanne Theiß, Eugen Mengel, Heiko Runz

    Izdano 2011
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  2. 2
    Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

    Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators od Miriam Stampfer, Susanne Theiß, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S. Ory, Eugen Mengel, Christine Fischer, Heiko Runz

    Izdano 2013
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  3. 3
    Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

    Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells od Darius Ebrahimi‐Fakhari, Lara Wahlster, Fabian Bartz, Jennifer Werenbeck-Ueding, Maria Praggastis, Jessie Zhang, Brigitte Joggerst-Thomalla, Susanne Theiß, Dirk Grimm, Daniel S. Ory, Heiko Runz

    Izdano 2016
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  4. 4
    Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

    Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction od Aenne S. Thormaehlen, Christian Schuberth, Hong‐Hee Won, Peter Blattmann, Brigitte Joggerst-Thomalla, Susanne Theiß, Rosanna Asselta, Stefano Duga, Pier Angelica Merlini, Diego Ardissino, Eric S. Lander, Stacey Gabriel, Daniel J. Rader, Gina M. Peloso, Rainer Pepperkok, Sekar Kathiresan, Heiko Runz

    Izdano 2015
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