Iron in Restless Legs Syndrome

Por Schulte, Eva C., Kaffe, Maria, Schormair, Barbara, Winkelmann, Juliane
Publicado no Mov Disord Clin Pract (2014)

Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome

Por Salminen, Aaro V., Schandra, Nathalie, Schormair, Barbara, Oexle, Konrad, Winkelmann, Juliane
Publicado no J Clin Sleep Med (2020)

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Por Zech, Michael, Lam, Daniel D., Francescatto, Ludmila, Schormair, Barbara, Salminen, Aaro V., Jochim, Angela, Wieland, Thomas, Lichtner, Peter, Peters, Annette, Gieger, Christian, Lochmüller, Hanns, Strom, Tim M., Haslinger, Bernhard, Katsanis, Nicholas, Winkelmann, Juliane
Publicado no Am J Hum Genet (2015)

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Por Winkelmann, Juliane, Lin, Ling, Schormair, Barbara, Kornum, Birgitte R., Faraco, Juliette, Plazzi, Giuseppe, Melberg, Atle, Cornelio, Ferdinando, Urban, Alexander E., Pizza, Fabio, Poli, Francesca, Grubert, Fabian, Wieland, Thomas, Graf, Elisabeth, Hallmayer, Joachim, Strom, Tim M., Mignot, Emmanuel
Publicado em 2012

HLA DQB1*06:02 Negative Narcolepsy with Hypocretin/Orexin Deficiency

Por Han, Fang, Lin, Ling, Schormair, Barbara, Pizza, Fabio, Plazzi, Giuseppe, Ollila, Hanna M., Nevsimalova, Sona, Jennum, Poul, Knudsen, Stine, Winkelmann, Juliane, Coquillard, Cristin, Babrzadeh, Farbod, Strom, Tim M., Wang, Chunlin, Mindrinos, Michael, Vina, Marcelo Fernandez, Mignot, Emmanuel
Publicado em 2014

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

Por Schormair, Barbara, Plag, Jens, Kaffe, Maria, Groß, Nadine, Czamara, Darina, Samtleben, Walter, Lichtner, Peter, Ströhle, Andreas, Stefanidis, Ioannis, Vainas, Andreas, Dardiotis, Efthimios, Sakkas, George K, Gieger, Christian, Müller-Myhsok, Bertram, Meitinger, Thomas, Heemann, Uwe, Hadjigeorgiou, Georgios M, Oexle, Konrad, Winkelmann, Juliane
Publicado em 2011

Dilution of candidates: the case of iron-related genes in restless legs syndrome

Por Oexle, Konrad, Schormair, Barbara, Ried, Janina S, Czamara, Darina, Heim, Katharina, Frauscher, Birgit, Högl, Birgit, Trenkwalder, Claudia, Martin Fiedler, G, Thiery, Joachim, Lichtner, Peter, Prokisch, Holger, Specht, Michael, Müller-Myhsok, Bertram, Döring, Angela, Gieger, Christian, Peters, Annette, Wichmann, H-Erich, Meitinger, Thomas, Winkelmann, Juliane
Publicado em 2013

Meis1: effects on motor phenotypes and the sensorimotor system in mice

Por Salminen, Aaro V., Garrett, Lillian, Schormair, Barbara, Rozman, Jan, Giesert, Florian, Niedermeier, Kristina M., Becker, Lore, Rathkolb, Birgit, Rácz, Ildikó, Klingenspor, Martin, Klopstock, Thomas, Wolf, Eckhard, Zimmer, Andreas, Gailus-Durner, Valérie, Torres, Miguel, Fuchs, Helmut, Hrabě de Angelis, Martin, Wurst, Wolfgang, Hölter, Sabine M., Winkelmann, Juliane
Publicado no Dis Model Mech (2017)

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

Por Hopfner, Franziska, Schormair, Barbara, Knauf, Franziska, Berthele, Achim, Tölle, Thomas R, Baron, Ralf, Maier, Christoph, Treede, Rolf-Detlef, Binder, Andreas, Sommer, Claudia, Maihöfner, Christian, Kunz, Wolfram, Zimprich, Friedrich, Heemann, Uwe, Pfeufer, Arne, Näbauer, Michael, Kääb, Stefan, Nowak, Barbara, Gieger, Christian, Lichtner, Peter, Trenkwalder, Claudia, Oexle, Konrad, Winkelmann, Juliane
Publicado em 2011

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 em 2013

Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits

Por Hammerschlag, Anke R, Stringer, Sven, de Leeuw, Christiaan A, Sniekers, Suzanne, Taskesen, Erdogan, Watanabe, Kyoko, Blanken, Tessa F, Dekker, Kim, te Lindert, Bart HW, Wassing, Rick, Jonsdottir, Ingileif, Thorleifsson, Gudmar, Stefansson, Hreinn, Gislason, Thorarinn, Berger, Klaus, Schormair, Barbara, Wellmann, Juergen, Winkelmann, Juliane, Stefansson, Kari, Oexle, Konrad, Van Someren, Eus JW, Posthuma, Danielle
Publicado no Nat Genet (2017)

Restless Legs Syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon

Por Spieler, Derek, Kaffe, Maria, Knauf, Franziska, Bessa, José, Tena, Juan J., Giesert, Florian, Schormair, Barbara, Tilch, Erik, Lee, Heekyoung, Horsch, Marion, Czamara, Darina, Karbalai, Nazanin, von Toerne, Christine, Waldenberger, Melanie, Gieger, Christian, Lichtner, Peter, Claussnitzer, Melina, Naumann, Ronald, Müller-Myhsok, Bertram, Torres, Miguel, Garrett, Lillian, Rozman, Jan, Klingenspor, Martin, Gailus-Durner, Valérie, Fuchs, Helmut, Hrabě de Angelis, Martin, Beckers, Johannes, Hölter, Sabine M., Meitinger, Thomas, Hauck, Stefanie M., Laumen, Helmut, Wurst, Wolfgang, Casares, Fernando, Gómez-Skarmeta, Jose Luis, Winkelmann, Juliane
Publicado em 2014

Biological and clinical insights from genetics of insomnia symptoms

Por Lane, Jacqueline M., Jones, Samuel E., Dashti, Hassan S., Wood, Andrew R., Aragam, Krishna G., van Hees, Vincent T., Strand, Linn B., Winsvold, Bendik S., Wang, Heming, Bowden, Jack, Song, Yanwei, Patel, Krunal, Anderson, Simon G., Beaumont, Robin N., Bechtold, David A., Cade, Brian E., Haas, Mary, Kathiresan, Sekar, Little, Max A., Luik, Annemarie I., Loudon, Andrew S., Purcell, Shaun, Richmond, Rebecca C., Scheer, Frank A. J. L., Schormair, Barbara, Tyrrell, Jessica, Winkelman, John W., Winkelmann, Juliane, Hveem, Kristian, Zhao, Chen, Nielsen, Jonas B., Willer, Cristen J., Redline, Susan, Spiegelhalder, Kai, Kyle, Simon D., Ray, David W., Zwart, John-Anker, Brumpton, Ben, Frayling, Timothy M., Lawlor, Deborah A., Rutter, Martin K., Weedon, Michael N., Saxena, Richa
Publicado no Nat Genet (2019)

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

Por Schormair, Barbara, Zhao, Chen, Bell, Steven, Tilch, Erik, Salminen, Aaro V, Pütz, Benno, Dauvilliers, Yves, Stefani, Ambra, Högl, Birgit, Poewe, Werner, Kemlink, David, Sonka, Karel, Bachmann, Cornelius G, Paulus, Walter, Trenkwalder, Claudia, Oertel, Wolfgang H, Hornyak, Magdolna, Teder-Laving, Maris, Metspalu, Andres, Hadjigeorgiou, Georgios M, Polo, Olli, Fietze, Ingo, Ross, Owen A, Wszolek, Zbigniew, Butterworth, Adam S, Soranzo, Nicole, Ouwehand, Willem H, Roberts, David J, Danesh, John, Allen, Richard P, Earley, Christopher J, Ondo, William G, Xiong, Lan, Montplaisir, Jacques, Gan-Or, Ziv, Perola, Markus, Vodicka, Pavel, Dina, Christian, Franke, Andre, Tittmann, Lukas, Stewart, Alexandre F R, Shah, Svati H, Gieger, Christian, Peters, Annette, Rouleau, Guy A, Berger, Klaus, Oexle, Konrad, Di Angelantonio, Emanuele, Hinds, David A, Müller-Myhsok, Bertram, Winkelmann, Juliane
Publicado no Lancet Neurol (2017)

Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

Por Winkelmann, Juliane, Czamara, Darina, Schormair, Barbara, Knauf, Franziska, Schulte, Eva C., Trenkwalder, Claudia, Dauvilliers, Yves, Polo, Olli, Högl, Birgit, Berger, Klaus, Fuhs, Andrea, Gross, Nadine, Stiasny-Kolster, Karin, Oertel, Wolfgang, Bachmann, Cornelius G., Paulus, Walter, Xiong, Lan, Montplaisir, Jacques, Rouleau, Guy A., Fietze, Ingo, Vávrová, Jana, Kemlink, David, Sonka, Karel, Nevsimalova, Sona, Lin, Siong-Chi, Wszolek, Zbigniew, Vilariño-Güell, Carles, Farrer, Matthew J., Gschliesser, Viola, Frauscher, Birgit, Falkenstetter, Tina, Poewe, Werner, Allen, Richard P., Earley, Christopher J., Ondo, William G., Le, Wei-Dong, Spieler, Derek, Kaffe, Maria, Zimprich, Alexander, Kettunen, Johannes, Perola, Markus, Silander, Kaisa, Cournu-Rebeix, Isabelle, Francavilla, Marcella, Fontenille, Claire, Fontaine, Bertrand, Vodicka, Pavel, Prokisch, Holger, Lichtner, Peter, Peppard, Paul, Faraco, Juliette, Mignot, Emmanuel, Gieger, Christian, Illig, Thomas, Wichmann, H.-Erich, Müller-Myhsok, Bertram, Meitinger, Thomas
Publicado em 2011

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

Por Winkelmann, Juliane, Czamara, Darina, Schormair, Barbara, Knauf, Franziska, Schulte, Eva C., Trenkwalder, Claudia, Dauvilliers, Yves, Polo, Olli, Högl, Birgit, Berger, Klaus, Fuhs, Andrea, Gross, Nadine, Stiasny-Kolster, Karin, Oertel, Wolfgang, Bachmann, Cornelius G., Paulus, Walter, Xiong, Lan, Montplaisir, Jacques, Rouleau, Guy A., Fietze, Ingo, Vávrová, Jana, Kemlink, David, Sonka, Karel, Nevsimalova, Sona, Lin, Siong-Chi, Wszolek, Zbigniew, Vilariño-Güell, Carles, Farrer, Matthew J., Gschliesser, Viola, Frauscher, Birgit, Falkenstetter, Tina, Poewe, Werner, Allen, Richard P., Earley, Christopher J., Ondo, William G., Le, Wei-Dong, Spieler, Derek, Kaffe, Maria, Zimprich, Alexander, Kettunen, Johannes, Perola, Markus, Silander, Kaisa, Cournu-Rebeix, Isabelle, Francavilla, Marcella, Fontenille, Claire, Fontaine, Bertrand, Vodicka, Pavel, Prokisch, Holger, Lichtner, Peter, Peppard, Paul, Faraco, Juliette, Mignot, Emmanuel, Gieger, Christian, Illig, Thomas, Wichmann, H.-Erich, Müller-Myhsok, Bertram, Meitinger, Thomas
Publicado em 2011