Browsing 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen by Title

DSpace Repository

Browsing 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen by Title

Sort by: Order: Results:

  • Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study
    Perez-Millan, Agnes; Borrego-Ecija, Sergi; van Swieten, John C.; Jiskoot, Lize; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; de Mendonca, Alexandre; Butler, Chris R.; Gerhard, Alexander; Ducharme, Simon; Le Ber, Isabelle; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Tiraboschi, Pietro; Seelaar, Harro; Langheinrich, Tobias; Rohrer, Jonathan D.; Sala-Llonch, Roser; Sanchez-Valle, Raquel (2023)
  • Loss of central mineralocorticoid or glucocorticoid receptors impacts auditory nerve processing in the cochlea
    Marchetta, Philine; Eckert, Philipp; Lukowski, Robert; Ruth, Peter; Singer, Wibke; Ruttiger, Lukas; Knipper, Marlies (2022)
  • Loss of Complement Factor H impairs antioxidant capacity and energy metabolism of human RPE cells
    Armento, Angela; Honisch, Sabina; Panagiotakopoulou, Vasiliki; Sonntag, Inga; Jacob, Anke; Bolz, Sylvia; Kilger, Ellen; Deleidi, Michela; Clark, Simon; Ueffing, Marius (2020)
  • Loss of ELK1 has differential effects on age-dependent organ fibrosis
    Cairns, Jennifer T.; Habgood, Anthony; Edwards-Pritchard, Rochelle C.; Joseph, Chitra; John, Alison E.; Wilkinson, Chloe; Stewart, Iain D.; Leslie, Jack; Blaxall, Burns C.; Susztak, Katalin; Alberti, Siegfried; Nordheim, Alfred; Oakley, Fiona; Jenkins, Gisli; Tatler, Amanda L. (2020)
  • Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia
    Lobato, Amanda G.; Ortiz-Vega, Natalie; Canic, Tijana; Tao, Xianzun; Bucan, Nika; Ruan, Kai; Rebelo, Adriana P.; Schule, Rebecca; Zuchner, Stephan; Syed, Sheyum; Zhai, R. Grace (2024)
  • Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
    Martin, Elodie; Schuele, Rebecca; Smets, Katrien; Rastetter, Agnes; Boukhris, Amir; Loureiro, Jose L.; Gonzalez, Michael A.; Mundwiller, Emeline; Deconinck, Tine; Wessner, Marc; Jornea, Ludmila; Oteyza, Andres Caballero; Durr, Alexandra; Martin, Jean-Jacques; Schoels, Ludger; Mhiri, Chokri; Lamari, Foudil; Zuechner, Stephan; De Jonghe, Peter; Kabashi, Edor; Brice, Alexis; Stevanin, Giovanni (2013)
  • Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids
    Perez, Maria Jose; Ivanyuk, Dina; Panagiotakopoulou, Vasiliki; Di Napoli, Gabriele; Kalb, Stefanie; Brunetti, Dario; Al-Shaana, Rawaa; Kaeser, Stephan A.; Fraschka, Sabine Anne-Kristin; Jucker, Mathias; Zeviani, Massimo; Viscomi, Carlo; Deleidi, Michela (2020)
  • Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
    Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P. C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schoels, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; du Montcel, Sophie Tezenas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni; Durr, Alexandra (2019)
  • Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
    Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Levesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Abd Elmaksoud, Marwa; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S-Y; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuss, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Network, Undiagnosed Diseases; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-Francois; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S. (2024)
  • Loss of TDP-43 causes ectopic endothelial sprouting and migration defects through increased fibronectin, vcam 1 and integrin alpha 4/beta 1
    Hipke, Katrin; Pitter, Bettina; Hruscha, Alexander; van Bebber, Frauke; Modic, Miha; Bansal, Vikas; Lewandowski, Sebastian A.; Orozco, Denise; Edbauer, Dieter; Bonn, Stefan; Haass, Christian; Pohl, Ulrich; Montanez, Eloi; Schmid, Bettina (2023)
  • Loss of TREM2 function increases amyloid seeding but reduces plaque-associated ApoE
    Parhizkar, Samira; Arzberger, Thomas; Brendel, Matthias; Kleinberger, Gernot; Deussing, Maximilian; Focke, Carola; Nuscher, Brigitte; Xiong, Monica; Ghasemigharagoz, Alireza; Katzmarski, Natalie; Krasemann, Susanne; Lichtenthaler, Stefan F.; Mueller, Stephan A.; Colombo, Alessio; Monasor, Laura Sebastian; Tahirovic, Sabina; Herms, Jochen; Willem, Michael; Pettkus, Nadine; Butovsky, Oleg; Bartenstein, Peter; Edbauer, Dieter; Rominger, Axel; Ertuerk, Ali; Grathwohl, Stefan A.; Neher, Jonas J.; Holtzman, David M.; Meyer-Luehmann, Melanie; Haass, Christian (2019)
  • Loss of VPS1 3C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
    Lesage, Suzanne; Drouet, Valerie; Majounie, Elisa; Deramecourt, Vincent; Jacoupy, Maxime; Nicolas, Aude; Cormier-Dequaire, Florence; Hassoun, Sidi Mohamed; Pujol, Claire; Ciura, Sorana; Erpapazoglou, Zoi; Usenko, Tatiana; Maurage, Claude-Alain; Sahbatou, Mourad; Liebau, Stefan; Ding, Jinhui; Bilgic, Basar; Emre, Murat; Erginel-Unaltuna, Nihan; Guven, Gamze; Tison, Francois; Tranchant, Christine; Vidailhet, Marie; Corvol, Jean-Christophe; Krack, Paul; Leutenegger, Anne-Louise; Nalls, Michael A.; Hernandez, Dena G.; Heutink, Peter; Gibbs, J. Raphael; Hardy, John; Wood, Nicholas W.; Gasser, Thomas; Durr, Alexandra; Deleuze, Jean-Francois; Tazir, Meriem; Destee, Alain; Lohmann, Ebba; Kabashi, Edor; Singleton, Andrew; Corti, Olga; Brice, Alexis (2016)
  • Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type
    Koch, Nils A.; Sonnenberg, Lukas; Hedrich, Ulrike B. S.; Lauxmann, Stephan; Benda, Jan (2023)
  • Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
    Estrada-Cuzcano, Alejandro; Martin, Shaun; Chamova, Teodora; Synofzik, Matthis; Timmann, Dagmar; Holemans, Tine; Andreeva, Albena; Reichbauer, Jennifer; De Rycke, Riet; Chang, Dae-In; van Veen, Sarah; Samuel, Jean; Schoels, Ludger; Poppel, Thorsten; Sorensen, Danny Mollerup; Asselbergh, Bob; Klein, Christine; Zuchner, Stephan; Jordanova, Albena; Vangheluwe, Peter; Tournev, Ivailo; Schule, Rebecca (2017)
  • Loss-of-function mutations in the melanocortin 1 receptor cause disruption of dorso-ventral countershading in teleost fish
    Cal, Laura; Suarez-Bregua, Paula; Braasch, Ingo; Irion, Uwe; Kelsh, Robert; Miguel Cerda-Reverter, Jose; Rotllant, Josep (2019)
  • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
    Hengel, Holger; Bosso-Lefevre, Celia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Elise; Tan, Thong-Teck; Eio, Michelle Y.; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M.; Gunay-Aygun, Meral; Muriello, Michael J.; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G.; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michel A. A. P.; Oegema, Renske; Mitchell, Wendy G.; Pierson, Tyler Mark; Andrews, Marisa V.; Willing, Marcia C.; Rodan, Lance H.; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H.; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M.; Hashem, Mais O.; AlSayed, Moeenaldeen D.; Abdulrahim, Maha M.; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel A. H.; Faqeih, Eissa A.; Al Asmari, Ali; Algain, Sulwan M.; Jad, Lamyaa A.; Aldhalaan, Hesham M.; Helbig, Ingo; Koolen, David A.; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E.; Klee, Eric W.; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schuele, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A.; Stewart, James C.; Claridge-Chang, Adam; Lefeber, Dirk J.; Alkuraya, Fowzan S.; Mathuru, Ajay S.; Venkatesh, Byrappa; Barycki, Joseph J.; Simpson, Melanie A.; Jamuar, Saumya S.; Schoels, Ludger; Reversade, Bruno (2020)
  • Loss-of-function variants in HIVEP2 are a cause of intellectual disability
    Srivastava, Siddharth; Engels, Hartmut; Schanze, Ina; Cremer, Kirsten; Wieland, Thomas; Menzel, Moritz; Schubach, Max; Biskup, Saskia; Kreiss, Martina; Endele, Sabine; Strom, Tim M.; Wieczorek, Dagmar; Zenker, Martin; Gupta, Siddharth; Cohen, Julie; Zink, Alexander M.; Naidu, SakkuBai (2016)
  • Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
    Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Skorvanek, Matej; Necpal, Jan; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A.; Verschuuren, Corien; van Egmond, Martje E.; Flowers, Joanna M.; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe; Bustos, Bernabe I.; Gonzalez-Latapi, Paulina; Tisch, Stephen; Darveniza, Paul; Gorman, Kathleen M.; Peall, Kathryn J.; Boetzel, Kai; Koch, Jan C.; Kmiec, Tomasz; Plecko, Barbara; Boesch, Sylvia; Haslinger, Bernhard; Jech, Robert; Garavaglia, Barbara; Wood, Nick; Houlden, Henry; Gissen, Paul; Lubbe, Steven J.; Sue, Carolyn M.; Cif, Laura; Mencacci, Niccolo E.; Anderson, Glenn; Kurian, Manju A.; Winkelmann, Juliane (2020)
  • Lossless single-molecule counting to absolute quantify proteoforms
    Gross, Tobias; Hundertmark, Tobias; Csiszar, Villo; Sulyok, Andras Attila; Gross, Nina; Breiden, Maike; Kitschen, Niklas; von Groll, Uritza; Niemoeller, Christoph; Sanchez-Martin, Pablo; Heine, Anne; Goepfert, Jens; Szoradi, Tamas; Luebbert, Philipp; Koltay, Peter; Porschewski, Peter; Zengerle, Roland; Jeney, Csaba (2025)
  • Lost and found: dynamics of relationship and employment status over time in people with affective and psychotic spectrum disorders
    Senner, Fanny; Kerkhoff, Lisa; Adorjan, Kristina; Lauseker, Michael; Budde, Monika; Heilbronner, Maria; Kalman, Janos L.; Kohshour, Mojtaba Oraki; Papiol, Sergi; Reich-Erkelenz, Daniela; Schaupp, Sabrina K.; Schulte, Eva C.; Vogl, Thomas; Anghelescu, Ion-George; Arolt, Volker; Baune, Bernhardt T.; Dannlowski, Udo; Dalkner, Nina; Dietrich, Detlef E.; Fallgatter, Andreas J.; Figge, Christian; Konrad, Carsten; Lang, Fabian U.; Reimer, Jens; Reinighaus, Eva Z.; Schmauss, Max; Schmitt, Andrea; Senner, Simon; Spitzer, Carsten; Zimmermann, Joerg; Hasan, Alkomiet; Falkai, Peter; Schulze, Thomas G.; Heilbronner, Urs; Greiner, Sophie-Kathrin (2024)