Disseminating legislative debates: How legislators communicate the parliamentary agenda

por Huber, Lena Maria, Bodlos, Anita, Graf, Elisabeth, Meyer, Thomas M
Publicado 2020

Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch

por Dzinovic, Ivana, Graf, Elisabeth, Brugger, Melanie, Berutti, Riccardo, Příhodová, Iva, Blaschek, Astrid, Winkelmann, Juliane, Jech, Robert, Vill, Katharina, Zech, Michael
Publicado 2023

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

por Jansen, Sandra, Aigner, Bernhard, Pausch, Hubert, Wysocki, Michal, Eck, Sebastian, Benet-Pagès, Anna, Graf, Elisabeth, Wieland, Thomas, Strom, Tim M, Meitinger, Thomas, Fries, Ruedi
Publicado 2013

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

por Vogel, Florian D., Krenn, Martin, Westphal, Dominik S., Graf, Elisabeth, Wagner, Matias, Leiz, Steffen, Koniuszewski, Filip, Augé‐Stock, Maximilian, Kramer, Georg, Scholze, Petra, Ernst, Margot
Publicado 2022

Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice

por Keipert, Susanne, Lutter, Dominik, Schroeder, Bjoern O., Brandt, Daniel, Ståhlman, Marcus, Schwarzmayr, Thomas, Graf, Elisabeth, Fuchs, Helmut, de Angelis, Martin Hrabe, Tschöp, Matthias H., Rozman, Jan, Jastroch, Martin
Publicado 2020

Author Correction: Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice

por Keipert, Susanne, Lutter, Dominik, Schroeder, Bjoern O., Brandt, Daniel, Ståhlman, Marcus, Schwarzmayr, Thomas, Graf, Elisabeth, Fuchs, Helmut, de Angelis, Martin Hrabe, Tschöp, Matthias H., Rozman, Jan, Jastroch, Martin
Publicado 2021

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

por Auer-Grumbach, Michaela, Bode, Heiko, Pieber, Thomas R., Schabhüttl, Maria, Fischer, Dirk, Seidl, Rainer, Graf, Elisabeth, Wieland, Thomas, Schuh, Reinhard, Vacariu, Gerda, Grill, Franz, Timmerman, Vincent, Strom, Tim M., Hornemann, Thorsten
Publicado 2013

Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants

por Strohm, Laura, Hu, Zehan, Suk, Yongwon, Rühmkorf, Alina, Sternburg, Erin, Gattringer, Vanessa, Riemenschneider, Henrick, Berutti, Riccardo, Graf, Elisabeth, Weishaupt, Jochen H, Brill, Monika S, Harbauer, Angelika B, Dormann, Dorothee, Dengjel, Jörn, Edbauer, Dieter, Behrends, Christian
Publicado 2022

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

por Haack, Tobias B., Makowski, Christine, Yao, Yoshiaki, Graf, Elisabeth, Hempel, Maja, Wieland, Thomas, Tauer, Ulrike, Ahting, Uwe, Mayr, Johannes A., Freisinger, Peter, Yoshimatsu, Hiroki, Inui, Ken, Strom, Tim M., Meitinger, Thomas, Yonezawa, Atsushi, Prokisch, Holger
Publicado 2012

An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics

por Angelidis, Ilias, Simon, Lukas M., Fernandez, Isis E., Strunz, Maximilian, Mayr, Christoph H., Greiffo, Flavia R., Tsitsiridis, George, Ansari, Meshal, Graf, Elisabeth, Strom, Tim-Matthias, Nagendran, Monica, Desai, Tushar, Eickelberg, Oliver, Mann, Matthias, Theis, Fabian J., Schiller, Herbert B.
Publicado 2019

Rare Variants in PLXNA4 and Parkinson’s Disease

por Schulte, Eva C., Stahl, Immanuel, Czamara, Darina, Ellwanger, Daniel C., Eck, Sebastian, Graf, Elisabeth, Mollenhauer, Brit, Zimprich, Alexander, Lichtner, Peter, Haubenberger, Dietrich, Pirker, Walter, Brücke, Thomas, Bereznai, Benjamin, Molnar, Maria J., Peters, Annette, Gieger, Christian, Müller-Myhsok, Bertram, Trenkwalder, Claudia, Winkelmann, Juliane
Publicado 2013

Rare variants in LRRK1 and Parkinson's disease

por Schulte, Eva C., Ellwanger, Daniel C., Dihanich, Sybille, Manzoni, Claudia, Stangl, Katrin, Schormair, Barbara, Graf, Elisabeth, Eck, Sebastian, Mollenhauer, Brit, Haubenberger, Dietrich, Pirker, Walter, Zimprich, Alexander, Brücke, Thomas, Lichtner, Peter, Peters, Annette, Gieger, Christian, Trenkwalder, Claudia, Mewes, Hans-Werner, Meitinger, Thomas, Lewis, Patrick A., Klünemann, Hans H., Winkelmann, Juliane
Publicado 2013

Driver mutations in USP8 wild-type Cushing’s disease

por Sbiera, Silviu, Perez-Rivas, Luis Gustavo, Taranets, Lyudmyla, Weigand, Isabel, Flitsch, Jörg, Graf, Elisabeth, Monoranu, Camelia-Maria, Saeger, Wolfgang, Hagel, Christian, Honegger, Jürgen, Assie, Guillaume, Hermus, Ad R, Stalla, Günter K, Herterich, Sabine, Ronchi, Cristina L, Deutschbein, Timo, Reincke, Martin, Strom, Tim M, Popov, Nikita, Theodoropoulou, Marily, Fassnacht, Martin
Publicado 2019

Identification and characterization of distinct brown adipocyte subtypes in C57BL/6J mice

por Karlina, Ruth, Lutter, Dominik, Miok, Viktorian, Fischer, David, Altun, Irem, Schöttl, Theresa, Schorpp, Kenji, Israel, Andreas, Cero, Cheryl, Johnson, James W, Kapser-Fischer, Ingrid, Böttcher, Anika, Keipert, Susanne, Feuchtinger, Annette, Graf, Elisabeth, Strom, Tim, Walch, Axel, Lickert, Heiko, Walzthoeni, Thomas, Heinig, Matthias, Theis, Fabian J, García-Cáceres, Cristina, Cypess, Aaron M, Ussar, Siegfried
Publicado 2020

Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity

por Dorn, Tatjana, Kornherr, Jessica, Parrotta, Elvira I, Zawada, Dorota, Ayetey, Harold, Santamaria, Gianluca, Iop, Laura, Mastantuono, Elisa, Sinnecker, Daniel, Goedel, Alexander, Dirschinger, Ralf J, My, Ilaria, Laue, Svenja, Bozoglu, Tarik, Baarlink, Christian, Ziegler, Tilman, Graf, Elisabeth, Hinkel, Rabea, Cuda, Giovanni, Kääb, Stefan, Grace, Andrew A, Grosse, Robert, Kupatt, Christian, Meitinger, Thomas, Smith, Austin G, Laugwitz, Karl‐Ludwig, Moretti, Alessandra
Publicado 2018

TPP2 mutation associated with sterile brain inflammation mimicking MS

por Reinthaler, Eva M., Graf, Elisabeth, Zrzavy, Tobias, Wieland, Thomas, Hotzy, Christoph, Kopecky, Chantal, Pferschy, Sandra, Schmied, Christiane, Leutmezer, Fritz, Keilani, Mohammad, Lill, Christina M., Hoffjan, Sabine, Epplen, Jörg T., Zettl, Uwe K., Hecker, Michael, Deutschländer, Angela, Meuth, Sven G., Ahram, Mamoun, Mustafa, Baha, El-Khateeb, Mohammed, Vilariño-Güell, Carles, Sadovnick, A. Dessa, Zimprich, Fritz, Tomkinson, Birgitta, Strom, Tim, Kristoferitsch, Wolfgang, Lassmann, Hans, Zimprich, Alexander
Publicado 2018

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ(10) Deficiency

por Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele
Publicado 2015

Genetic diagnosis of Mendelian disorders via RNA sequencing

por Kremer, Laura S., Bader, Daniel M., Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B., Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W., Ghezzi, Daniele, Mayr, Johannes A., Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M., Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2017

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

por Haack, Tobias B., Staufner, Christian, Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse, Flemming, Burgard, Peter, Kotzaeridou, Urania, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Zschocke, Johannes, Kremer, Laura S., Graf, Elisabeth, Schwarzmayr, Thomas, Bader, Daniel M., Gagneur, Julien, Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger
Publicado 2015

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

por Haack, Tobias B, Jackson, Christopher B, Murayama, Kei, Kremer, Laura S, Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C, Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M, Alston, Charlotte L, Taylor, Robert W, Rodenburg, Richard J, Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M, Hoffmann, Georg F, Mayr, Johannes A, Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean-Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas
Publicado 2015