検索結果 - Saskia Biskup

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  1. 1
    Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease

    Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease 著者: Saskia Biskup, Andrew B. West

    出版事項 2008
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    Revisão
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  2. 2
    A distinct clinical phenotype in a German kindred with motor neuron disease carrying a<i>CHCHD10</i>mutation

    A distinct clinical phenotype in a German kindred with motor neuron disease carrying a<i>CHCHD10</i>mutation 著者: Delia Kurzwelly, Stefanie Krüger, Saskia Biskup, Michael T. Heneka

    出版事項 2015
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    Carta
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  3. 3
    Further delineation of the SATB2 phenotype

    Further delineation of the SATB2 phenotype 著者: Dennis Döcker, Max Schubach, Moritz Menzel, Marita Munz, Christiane Spaich, Saskia Biskup, Deborah Bartholdi

    出版事項 2013
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    Artigo
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  4. 4
    Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas

    Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas 著者: Anne-Katrin Hickmann, Maximilian Frick, Dirk Hadaschik, Florian Battke, Markus Bittl, Oliver Ganslandt, Saskia Biskup, Dennis Döcker

    出版事項 2019
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    Artigo
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  5. 5
    Analysis of the intestinal microbiota using SOLiD 16S rRNA gene sequencing and SOLiD shotgun sequencing

    Analysis of the intestinal microbiota using SOLiD 16S rRNA gene sequencing and SOLiD shotgun sequencing 著者: Suparna Mitra, Karin Förster‐Fromme, Antje Damms-Machado, Tim Scheurenbrand, Saskia Biskup, Daniel H. Huson, Stephan C. Bischoff

    出版事項 2013
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    Artigo
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  6. 6
    ARHGEF7 (BETA-PIX) Acts as Guanine Nucleotide Exchange Factor for Leucine-Rich Repeat Kinase 2

    ARHGEF7 (BETA-PIX) Acts as Guanine Nucleotide Exchange Factor for Leucine-Rich Repeat Kinase 2 著者: Karina Haebig, Christian Johannes Gloeckner, Marta Garcia‐Miralles, Frank Gillardon, Claudia Schulte, Olaf Rieß, Marius Ueffing, Saskia Biskup, Michael Bonin

    出版事項 2010
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    Artigo
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  7. 7
    Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

    Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort 著者: Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Matthis Synofzik, Lüdger Schöls, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Saskia Biskup

    出版事項 2016
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    Artigo
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  8. 8
    Dynamic and redundant regulation of LRRK2 and LRRK1 expression

    Dynamic and redundant regulation of LRRK2 and LRRK1 expression 著者: Saskia Biskup, Darren J. Moore, Alexis Rea, Bettina Lorenz-Deperieux, Candice Coombes, Valina L. Dawson, Ted M. Dawson, Andrew B. West

    出版事項 2007
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    Artigo
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  9. 9
    A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort

    A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort 著者: Kathrin Klein, Roman Tremmel, Stefan Winter, Sarah Fehr, Florian Battke, Tim Scheurenbrand, Elke Schaeffeler, Saskia Biskup, Matthias Schwab, Ulrich M. Zanger

    出版事項 2019
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    Artigo
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  10. 10
    Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity

    Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity 著者: Andrew B. West, Darren J. Moore, Saskia Biskup, Artem Bugayenko, Wanli W. Smith, Christopher A. Ross, Valina L. Dawson, Ted M. Dawson

    出版事項 2005
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    Artigo
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  11. 11
    Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily

    Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily 著者: Klodjan Stafa, Elpida Tsika, Roger Moser, Alessandra Musso, Liliane Glauser, Amy Jones, Saskia Biskup, Yulan Xiong, Rina Bandopadhyay, Valina L. Dawson, Ted M. Dawson, Darren J. Moore

    出版事項 2013
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    Artigo
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  12. 12
    Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

    Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period 著者: Nicole Weisschuh, Carolin D. Obermaier, Florian Battke, Antje Bernd, Laura Kuehlewein, Fadi Nasser, Ditta Zobor, Eberhart Zrenner, Eva Weber, Bernd Wissinger, Saskia Biskup, Katarína Štingl, Susanne Kohl

    出版事項 2020
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    Artigo
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  13. 13
    Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity

    Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity 著者: Andrew B. West, Darren J. Moore, Catherine Choi, Shaida A. Andrabi, Xiaojie Li, Dustin Dikeman, Saskia Biskup, Zhenshui Zhang, Kah‐Leong Lim, Valina L. Dawson, Ted M. Dawson

    出版事項 2007
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    Artigo
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  14. 14
    Neurodegenerative phenotypes in an A53T -synuclein transgenic mouse model are independent of LRRK2

    Neurodegenerative phenotypes in an A53T -synuclein transgenic mouse model are independent of LRRK2 著者: João Paulo Lima Daher, Olga Pletniková, Saskia Biskup, Alessandra Musso, Sandra Gellhaar, Dagmar Galter, Juan C. Troncoso, Michael K. Lee, Ted M. Dawson, Valina L. Dawson, Darren J. Moore

    出版事項 2012
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    Artigo
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  15. 15
    Variability in hepatic expression of organic anion transporter 7/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors

    Variability in hepatic expression of organic anion transporter 7/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors 著者: Arian Emami Riedmaier, Oliver Burk, Barbara A. C. van Eijck, Elke Schaeffeler, Kathrin Klein, Sarah Fehr, Saskia Biskup, Simon Müller, Stefan Winter, Ulrich M. Zanger, Matthias Schwab, Anne T. Nies

    出版事項 2015
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    Artigo
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  16. 16
    The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

    The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects 著者: Cornelis Blauwendraat, Carlo Wilke, Javier Simón‐Sánchez, Iris E. Jansen, Anika Reifschneider, Anja Capell, Christian Haass, Melissa Castillo-Lizardo, Saskia Biskup, Walter Maetzler, Patrizia Rizzu, Peter Heutink, Matthis Synofzik

    出版事項 2017
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    Artigo
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  17. 17
    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies 著者: Nicola Glöckle, Susanne Kohl, Julia Mohr, Tim Scheurenbrand, Andrea Sprecher, Nicole Weisschuh, Antje Bernd, Günther Rudolph, Max Schubach, Charlotte M. Poloschek, Eberhart Zrenner, Saskia Biskup, Wolfgang Berger, Bernd Wissinger, John Neidhardt

    出版事項 2013
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    Artigo
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  18. 18
    SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

    SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis 著者: Julien H. Park, Christiane Elpers, Janine Reunert, Michael L. McCormick, Julia Mohr, Saskia Biskup, Oliver Schwartz, Stephan Rust, Marianne Grüneberg, Anja Seelhöfer, Ulrike Schara, Eugen Boltshauser, Douglas R. Spitz, Thorsten Marquardt

    出版事項 2019
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    Artigo
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  19. 19
    KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

    KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients 著者: Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung‐Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter Krawitz, Gholson J. Lyon

    出版事項 2022
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    Artigo
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  20. 20
    Loss-of-function variants in HIVEP2 are a cause of intellectual disability

    Loss-of-function variants in HIVEP2 are a cause of intellectual disability 著者: Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu

    出版事項 2015
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    Artigo
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