Rezultati pretrage - Heiko Runz
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Inhibition of Intracellular Cholesterol Transport Alters Presenilin Localization and Amyloid Precursor Protein Processing in Neuronal Cells od Heiko Runz, Jens Rietdorf, Inge Tomic, Marina de Bernard, Konrad Beyreuther, Rainer Pepperkok, Tobias Hartmann
Izdano 2002Artigo -
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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 2013Artigo -
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Genetic associations of protein-coding variants in human disease od Benjamin B. Sun, Mitja Kurki, Christopher N. Foley, Asma Mechakra, Chia‐Yen Chen, Eric Marshall, Jemma B. Wilk, Benjamin B. Sun, Chia-Yen Ghen, Eric Marshall, Jemma B. Wilk, Heiko Runz, Mohamed Chahine, Philippe Chevalier, Georges Christé, Mitja Kurki, Aarno Palotie, Mark J. Daly, Aarno Palotie, Mark J. Daly, Heiko Runz
Izdano 2022Artigo -
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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations od Andreas Herzog, Ralf Hartung, Arnold Reuser, Pia Hermanns, Heiko Runz, Nesrin Karabul, Seyfullah Gökce, Joachim Pohlenz, Christoph Kampmann, Christina Lampe, Michael Beck, Eugen Mengel
Izdano 2012Artigo -
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Identification of Cholesterol-Regulating Genes by Targeted RNAi Screening od Fabian Bartz, L. Kern, Dorothee Erz, Mingang Zhu, Daniel F. Gilbert, Till Meinhof, Ute Wirkner, Holger Erfle, Martina U. Muckenthaler, Rainer Pepperkok, Heiko Runz
Izdano 2009Artigo -
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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 2016Artigo -
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Immune system-wide Mendelian randomization and triangulation analyses support autoimmunity as a modifiable component in dementia-causing diseases od Joni V. Lindbohm, Nina Mars, Pyry N. Sipilä, Archana Singh‐Manoux, Heiko Runz, Gill Livingston, Sudha Seshadri, Ramnik J. Xavier, Aroon D. Hingorani, Samuli Ripatti, Mika Kivimäki
Izdano 2022Artigo -
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Simvastatin strongly reduces levels of Alzheimer's disease β-amyloid peptides Aβ42 and Aβ40 <i>in vitro</i> and <i>in vivo</i> od Klaus Faßbender, Mikael Simons, Christine Bergmann, Mark Stroick, Dieter Lütjohann, Patrick Keller, Heiko Runz, Sandra Kühl, Thomas Bertsch, Klaus von Bergmann, M.G. Hennerici, Konrad Beyreuther, Tobias Hartmann
Izdano 2001Artigo -
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Plasma proteomic evidence for increased β-amyloid pathology after SARS-CoV-2 infection od Eugene Duff, Henrik Zetterberg, Amanda Heslegrave, Abbas Dehghan, Paul Elliott, Naomi E. Allen, Heiko Runz, Rhiannon Laban, Elena Veleva, Christopher D. Whelan, Benjamin B. Sun, Paul M. Matthews
Izdano 2025Artigo -
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Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials od Mario Cortina‐Borja, Daniëlle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon Jones, Christine í Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Brémovà-Ertl, Michael Strupp, Frances M. Platt
Izdano 2018Artigo -
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Blood protein levels predict leading incident diseases and mortality in UK Biobank od Danni A. Gadd, Robert F. Hillary, Zhana Kuncheva, Tasos Mangelis, Yipeng Cheng, Manju Dissanayake, Romi Admanit, Jake Gagnon, Tin-Chi Lin, Kyle Ferber, Heiko Runz, Riccardo E. Marioni, Christopher N. Foley, Benjamin B. Sun
Izdano 2023Pré-impressão -
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Blood protein assessment of leading incident diseases and mortality in the UK Biobank od Danni A. Gadd, Robert F. Hillary, Zhana Kuncheva, Tasos Mangelis, Yipeng Cheng, Manju Dissanayake, Romi Admanit, Jake Gagnon, Tin-Chi Lin, Kyle Ferber, Heiko Runz, Christopher N. Foley, Riccardo E. Marioni, Benjamin B. Sun
Izdano 2024Artigo -
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Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression od Ruoyu Tian, Tian Ge, Hyeokmoon Kweon, Daniel Rocha, Max Lam, Jimmy Z. Liu, Kritika Singh, Daniel F. Levey, Joel Gelernter, Murray B. Stein, Ellen Tsai, Hailiang Huang, Christopher F. Chabris, Todd Lencz, Heiko Runz, Chia‐Yen Chen
Izdano 2024Artigo -
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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 2015Artigo -
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The Parkinson’s disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium release od Daniel J. Apicco, Evgeny Shlevkov, Catherine L. Nezich, David Tran, Edward Guilmette, Justin W. Nicholatos, Collin M. Bantle, Yi Chen, Kelly E. Glajch, Neeta A. Abraham, Lan Dang, G. Campbell Kaynor, Ellen Tsai, Khanh‐Dung H. Nguyen, Joost Groot, Yuting Liu, Andreas Weihofen, Jessica A. Hurt, Heiko Runz, Warren D. Hirst
Izdano 2020Artigo -
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Brain expression quantitative trait locus and network analysis reveals downstream effects and putative drivers for brain-related diseases od Niek de Klein, Ellen Tsai, Martijn Vochteloo, Denis Baird, Yunfeng Huang, Chia‐Yen Chen, Sipko van Dam, Patrick Deelen, Olivier B. Bakker, Omar El Garwany, Zhengyu Ouyang, Eric Marshall, Maria I. Zavodszky, Wouter van Rheenen, Mark K. Bakker, Jan H. Veldink, Tom R. Gaunt, Heiko Runz, Lude Franke, Harm-Jan Westra
Izdano 2021Pré-impressão
Alati za pretragu:
Povezani predmeti
Biology
Medicine
Genetics
Gene
Internal medicine
Disease
Genotype
Single-nucleotide polymorphism
Genome-wide association study
Computational biology
Bioinformatics
Phenotype
Biobank
Endocrinology
Genetic association
Biochemistry
Exome sequencing
Genetic variants
Mendelian randomization
Mutation
Cholesterol
Exome
Endosome
Genome
NPC1
Neuroscience
Proteome
Cell biology
Immunology
Niemann–Pick disease, type C