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Anzahl der Publikationen: 42

Zeitschriftenartikel

Hellbach, Fabian; Freuer, Dennis; Meisinger, Christa; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Winkelmann, Juliane; Costeira, Ricardo; Hauner, Hans; Baumeister, Sebastian-Edgar; Bell, Jordana T.; Waldenberger, Melanie und Linseisen, Jakob ORCID logoORCID: https://orcid.org/0000-0002-9386-382X (2024): Usual dietary intake and change in DNA methylation over years: EWAS in KORA FF4 and KORA fit. In: Frontiers in Nutrition, Bd. 10, 1295078 [PDF, 218kB]

Lange de Luna, Julia; Nounu, Aayah; Neumeyer, Sonja; Sinke, Lucy; Wilson, Rory; Hellbach, Fabian; Matías-García, Pamela R.; Delerue, Thomas; Winkelmann, Juliane; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Thorand, Barbara; Beekman, Marian; Heijmans, Bastiaan T.; Slagboom, Eline; Gieger, Christian; Linseisen, Jakob ORCID logoORCID: https://orcid.org/0000-0002-9386-382X und Waldenberger, Melanie (2024): Epigenome-wide association study of dietary fatty acid intake. In: Clinical Epigenetics, Bd. 16, Nr. 1, 29 [PDF, 2MB]

Harrer, Philip; Inderhees, Julica ORCID logoORCID: https://orcid.org/0000-0003-4523-3652; Zhao, Chen; Schormair, Barbara; Tilch, Erik; Gieger, Christian; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Jöhren, Olaf ORCID logoORCID: https://orcid.org/0000-0002-0532-5133; Fleming, Thomas; Nawroth, Peter P.; Berger, Klaus; Hermesdorf, Marco ORCID logoORCID: https://orcid.org/0000-0003-3541-7212; Winkelmann, Juliane; Schwaninger, Markus und Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 (2024): Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity. In: eBioMedicine, Bd. 101 [Forthcoming]

Harrer, Philip; Mirza‐Schreiber, Nazanin; Mandel, Vanessa; Roeber, Sigrun; Stefani, Ambra ORCID logoORCID: https://orcid.org/0000-0003-4259-8824; Naher, Shamsun; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Gieger, Christian; Waldenberger, Melanie; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Högl, Birgit; Herms, Jochen; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Winkelmann, Juliane und Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 (2023): Epigenetic Association Analyses and Risk Prediction of RLS. In: Movement Disorders, Bd. 38, Nr. 8: S. 1410-1418 [PDF, 685kB]

Keshawarz, Amena ORCID logoORCID: https://orcid.org/0000-0002-4645-2411; Joehanes, Roby; Ma, Jiantao; Lee, Gha Young; Costeira, Ricardo; Tsai, Pei-Chien ORCID logoORCID: https://orcid.org/0000-0003-1575-9020; Masachs, Olatz M.; Bell, Jordana T.; Wilson, Rory; Thorand, Barbara; Winkelmann, Juliane; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Linseisen, Jakob ORCID logoORCID: https://orcid.org/0000-0002-9386-382X; Waldenberger, Melanie; Lehtimäki, Terho; Mishra, Pashupati P.; Kähönen, Mika; Raitakari, Olli; Helminen, Mika; Wang, Carol A.; Melton, Phillip E.; Huang, Rae-Chi; Pennell, Craig E.; O’Sullivan, Therese A.; Ochoa-Rosales, Carolina; Voortman, Trudy; Meurs, Joyce B.J. van; Young, Kristin L.; Graff, Misa; Wang, Yujie; Kiel, Douglas P.; Smith, Caren E.; Jacques, Paul F. und Levy, Daniel ORCID logoORCID: https://orcid.org/0000-0003-1843-8724 (2023): Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis. In: Epigenetics, Bd. 18, Nr. 1 [PDF, 1MB]

Dzinovic, Ivana; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Pavelekova, Petra; Havrankova, Petra; Tsoma, Eugenia; Indelicato, Elisabetta; Runkel, Eva; Held, Valentin; Weise, David; Janzarik, Wibke; Eckenweiler, Matthias; Berweck, Steffen; Mall, Volker; Haslinger, Bernhard; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2022): Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes. In: Parkinsonism & Related Disorders, Bd. 102: S. 1-6

Tilch, Erik; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Högl, Birgit; Stefani, Ambra; Berger, Klaus; Trenkwalder, Claudia; Bachmann, Cornelius G.; Hornyak, Magdolna; Fietze, Ingo; Müller-Nurasyid, Martina ORCID logoORCID: https://orcid.org/0000-0003-3793-5910; Peters, Annette; Herms, Stefan; Nöthen, Markus M.; Müller-Myhsok, Bertram; Oexle, Konrad und Winkelmann, Juliane (2022): ExomeChip-based rare variant association study in restless legs syndrome. In: Sleep Medicine, Bd. 94: S. 26-30

Hellbach, Fabian ORCID logoORCID: https://orcid.org/0000-0001-8918-0017; Sinke, Lucy; Costeira, Ricardo; Baumeister, Sebastian-Edgar; Beekman, Marian; Louca, Panayiotis; Leeming, Emily R.; Mompeo, Olatz; Berry, Sarah; Wilson, Rory; Wawro, Nina; Freuer, Dennis; Hauner, Hans; Peters, Annette; Winkelmann, Juliane; Koenig, Wolfgang; Meisinger, Christa; Waldenberger, Melanie; Heijmans, Bastiaan T.; Slagboom, P. Eline; Bell, Jordana T. und Linseisen, Jakob (2022): Pooled analysis of epigenome-wide association studies of food consumption in KORA, TwinsUK and LLS. In: European Journal of Nutrition, Bd. 62: S. 1357-1375 [PDF, 1MB]

Falkai, Peter; Koutsouleris, Nikolaos; Bertsch, Katja; Bialas, Mirko; Binder, Elisabeth; Buehner, Markus; Buyx, Alena; Cai, Na; Cappello, Silvia; Ehring, Thomas; Gensichen, Jochen; Hamann, Johannes; Hasan, Alkomiet; Henningsen, Peter; Leucht, Stefan; Moehrmann, Karl Heinz; Nagelstutz, Elisabeth; Padberg, Frank; Peters, Annette; Pfaeffel, Lea; Reich-Erkelenz, Daniela; Riedl, Valentin; Rueckert, Daniel; Schmitt, Andrea; Schulte-Koerne, Gerd; Scheuring, Elfriede; Schulze, Thomas G.; Starzengruber, Rudolf; Stier, Susanne; Theis, Fabian J.; Winkelmann, Juliane; Wurst, Wolfgang und Priller, Josef (2022): Concept of the Munich/Augsburg Consortium Precision in Mental Health for the German Center of Mental Health. In: Frontiers in Psychiatry, Bd. 13, 815718

Hellbach, Fabian; Baumeister, Sebastian-Edgar; Wilson, Rory; Wawro, Nina; Dahal, Chetana; Freuer, Dennis; Hauner, Hans; Peters, Annette; Winkelmann, Juliane; Schwettmann, Lars; Rathmann, Wolfgang; Kronenberg, Florian; Koenig, Wolfgang; Meisinger, Christa; Waldenberger, Melanie und Linseisen, Jakob (2022): Association between Usual Dietary Intake of Food Groups and DNA Methylation and Effect Modification by Metabotype in the KORA FF4 Cohort. In: Life, Bd. 12, Nr. 7, 1064

Oeckl, Patrick; Anderl-Straub, Sarah; Danek, Adrian; Diehl-Schmid, Janine; Fassbender, Klaus; Fliessbach, Klaus; Halbgebauer, Steffen; Huppertz, Hans-Juergen; Jahn, Holger; Kassubek, Jan; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Prudlo, Johannes; Schneider, Anja; Schroeter, Matthias L.; Steinacker, Petra; Volk, Alexander E.; Wagner, Matias; Winkelmann, Juliane; Wiltfang, Jens; Ludolph, Albert C. und Otto, Markus (2022): Relationship of serum beta-synuclein with blood biomarkers and brain atrophy. In: Alzheimer'S & Dementia, Bd. 19, Nr. 4: S. 1358-1371

Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranova, Tereza; Rektorova, Irena; Havrankova, Petra; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A.; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke G.; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane und Oexle, Konrad (2021): Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study. In: Movement Disorders, Bd. 36, Nr. 8: S. 1959-1964

Wagner, Matias; Lorenz, Georg; Volk, Alexander E.; Brunet, Theresa; Edbauer, Dieter; Berutti, Riccardo; Zhao, Chen; Anderl-Straub, Sarah; Bertram, Lars; Danek, Adrian; Deschauer, Marcus; Dill, Veronika; Fassbender, Klaus; Fliessbach, Klaus; Goetze, Katharina S.; Jahn, Holger; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Obrig, Hellmuth; Prudlo, Johannes; Schneider, Anja; Schroeter, Matthias L.; Uttner, Ingo; Vukovich, Ruth; Wiltfang, Jens; Winkler, Andrea S.; Zhou, Qihui; Ludolph, Albert C.; Oexle, Konrad; Otto, Markus; Diehl-Schmid, Janine und Winkelmann, Juliane (2021): Clinico-genetic findings in 509 frontotemporal dementia patients. In: Molecular Psychiatry, Bd. 26, Nr. 10: S. 5824-5832

Tin, Adrienne; Schlosser, Pascal; Matias-Garcia, Pamela R.; Thio, Chris H. L.; Joehanes, Roby; Liu, Hongbo; Yu, Zhi; Weihs, Antoine; Hoppmann, Anselm; Grundner-Culemann, Franziska; Min, Josine L.; Kuhns, Victoria L. Halperin; Adeyemo, Adebowale A.; Agyemang, Charles; Ärnlöv, Johan; Aziz, Nasir A.; Baccarelli, Andrea; Bochud, Murielle; Brenner, Hermann; Bressler, Jan; Breteler, Monique M. B.; Carmeli, Cristian; Chaker, Layal; Coresh, Josef; Corre, Tanguy; Correa, Adolfo; Cox, Simon R.; Delgado, Graciela E.; Eckardt, Kai-Uwe; Ekici, Arif B.; Endlich, Karlhans; Floyd, James S.; Fraszczyk, Eliza; Gao, Xu; Gao, Xin; Gelber, Allan C.; Ghanbari, Mohsen; Ghasemi, Sahar; Gieger, Christian; Greenland, Philip; Grove, Megan L.; Harris, Sarah E.; Hemani, Gibran; Henneman, Peter; Herder, Christian; Horvath, Steve; Hou, Lifang; Hurme, Mikko A.; Hwang, Shih-Jen; Kardia, Sharon L. R.; Kasela, Silva; Kleber, Marcus E.; Koenig, Wolfgang; Kooner, Jaspal S.; Kronenberg, Florian; Kuehnel, Brigitte; Ladd-Acosta, Christine; Lehtimaki, Terho; Lind, Lars; Liu, Dan; Lloyd-Jones, Donald M.; Lorkowski, Stefan; Lu, Ake T.; Marioni, Riccardo E.; Marz, Winfried; McCartney, Daniel L.; Meeks, Karlijn A. C.; Milani, Lili; Mishra, Pashupati P.; Nauck, Matthias; Nowak, Christoph; Peters, Annette; Prokisch, Holger; Psaty, Bruce M.; Raitakari, Olli T.; Ratliff, Scott M.; Reiner, Alex P.; Schottker, Ben; Schwartz, Joel; Sedaghat, Sanaz; Smith, Jennifer A.; Sotoodehnia, Nona; Stocker, Hannah R.; Stringhini, Silvia; Sundstrom, Johan; Swenson, Brenton R.; Meurs, Joyce B. J. van; Vliet-Ostaptchouk, Jana V. van; Venema, Andrea; Volker, Uwe; Winkelmann, Juliane; Wolffenbuttel, Bruce H. R.; Zhao, Wei; Zheng, Yinan; Loh, Marie; Snieder, Harold; Waldenberger, Melanie; Levy, Daniel; Akilesh, Shreeram; Woodward, Owen M.; Susztak, Katalin; Teumer, Alexander und Kottgen, Anna (2021): Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus. In: Nature Communications, Bd. 12, Nr. 1, 7173

Schlosser, Pascal; Tin, Adrienne; Matias-Garcia, Pamela R.; Thio, Chris H. L.; Joehanes, Roby; Liu, Hongbo; Weihs, Antoine; Yu, Zhi; Hoppmann, Anselm; Grundner-Culemann, Franziska; Min, Josine L.; Adeyemo, Adebowale A.; Agyemang, Charles; Arnlov, Johan; Aziz, Nasir A.; Baccarelli, Andrea; Bochud, Murielle; Brenner, Hermann; Breteler, Monique M. B.; Carmeli, Cristian; Chaker, Layal; Chambers, John C.; Cole, Shelley A.; Coresh, Josef; Corre, Tanguy; Correa, Adolfo; Cox, Simon R.; Klein, Niek de; Delgado, Graciela E.; Domingo-Relloso, Arce; Eckardt, Kai-Uwe; Ekici, Arif B.; Endlich, Karlhans; Evans, Kathryn L.; Floyd, James S.; Fornage, Myriam; Franke, Lude; Fraszczyk, Eliza; Gao, Xu; Gao, Xin; Ghanbari, Mohsen; Ghasemi, Sahar; Gieger, Christian; Greenland, Philip; Grove, Megan L.; Harris, Sarah E.; Hemani, Gibran; Henneman, Peter; Herder, Christian; Horvath, Steve; Hou, Lifang; Hurme, Mikko A.; Hwang, Shih-Jen; Jarvelin, Marjo-Riitta; Kardia, Sharon L. R.; Kasela, Silva; Kleber, Marcus E.; Koenig, Wolfgang; Kooner, Jaspal S.; Kramer, Holly; Kronenberg, Florian; Kuhnel, Brigitte; Lehtimaki, Terho; Lind, Lars; Liu, Dan; Liu, Yongmei; Lloyd-Jones, Donald M.; Lohman, Kurt; Lorkowski, Stefan; Lu, Ake T.; Marioni, Riccardo E.; Marz, Winfried; McCartney, Daniel L.; Meeks, Karlijn A. C.; Milani, Lili; Mishra, Pashupati P.; Nauck, Matthias; Navas-Acien, Ana; Nowak, Christoph; Peters, Annette; Prokisch, Holger; Psaty, Bruce M.; Raitakari, Olli T.; Ratliff, Scott M.; Reiner, Alex P.; Rosas, Sylvia E.; Schottker, Ben; Schwartz, Joel; Sedaghat, Sanaz; Smith, Jennifer A.; Sotoodehnia, Nona; Stocker, Hannah R.; Stringhini, Silvia; Sundstrom, Johan; Swenson, Brenton R.; Tellez-Plaza, Maria; Meurs, Joyce B. J. van; Vliet-Ostaptchouk, Jana V. van; Venema, Andrea; Verweij, Niek; Walker, Rosie M.; Wielscher, Matthias; Winkelmann, Juliane; Wolffenbuttel, Bruce H. R.; Zhao, Wei; Zheng, Yinan; Loh, Marie; Snieder, Harold; Levy, Daniel; Waldenberger, Melanie; Susztak, Katalin; Kottgen, Anna und Teumer, Alexander (2021): Meta-analyses identify DNA methylation associated with kidney function and damage. In: Nature Communications, Bd. 12, Nr. 1, 7174

Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria und Ebrahimi-Fakhari, Darius (2021): Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. In: Human Mutation, Bd. 42, Nr. 6: S. 762-776

Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad (2021): Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. In: Brain, Bd. 145, Nr. 2: S. 644-654

Dzinovic, Ivana; Skorvanek, Matej; Necpal, Jan; Boesch, Sylvia; Svantnerova, Jana; Wagner, Matias; Havrankova, Petra; Pavelekova, Petra; Han, Vladimir; Janzarik, Wibke G.; Berweck, Steffen; Diebold, Isabel; Kuster, Alice; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2021): Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series. In: Parkinsonism & Related Disorders, Bd. 90: S. 73-78

Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpal, Jan; Havrankova, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F.; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A.; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Borggraefe, Ingo; Distelmaier, Felix; Strom, Tim M.; Winkelmann, Juliane; Meitinger, Thomas; Zech, Michael und Wagner, Matias (2021): De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. In: Clinical Genetics, Bd. 100, Nr. 1: S. 14-28

Mirza-Schreiber, Nazanin ORCID logoORCID: https://orcid.org/0000-0003-0836-8267; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 (2021): Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. In: Brain, Bd. 145, Nr. 2: S. 644-654

Licata, Abigail; Grimmer, Timo; Winkelmann, Juliane; Wagner, Matias; Goldhardt, Oliver; Riedl, Lina; Rossmeier, Carola; Yakushev, Igor und Diehl-Schmid, Janine (2020): Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations. In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Bd. 21: S. 389-395

Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; Kamp, Jiddeke van de; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Allen, Margot van; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H. und Bhoj, Elizabeth J. (2020): Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. In: Science Advances, Bd. 6, Nr. 49, eabc9207

Zech, Michael; Brunet, Theresa; Skorvanek, Matej; Blaschek, Astrid; Vill, Katharina; Hanker, Britta; Huning, Irina; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Ruzicka, Evzen; Kamsteeg, Erik-Jan; Smagt, Jasper J. van der; Wagner, Matias; Jech, Robert und Winkelmann, Juliane (2020): Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. In: Parkinsonism & Related Disorders, Bd. 77: S. 70-75

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; Egmond, Martje E. van; 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.; Bötzel, 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. und Winkelmann, Juliane (2020): Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. In: Annals of Neurology, Bd. 88, Nr. 5: S. 867-877

Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Müller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda und Schuele, Rebecca (2019): Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. In: Nature Communications, Bd. 10, 4790 [PDF, 2MB]

Götzl, Julia K.; Brendel, Matthias; Werner, Georg; Parhizkar, Samira; Monasor, Laura Sebastian; Kleinberger, Gernot; Colombo, Alessio‐Vittorio; Deussing, Maximilian; Wagner, Matias; Winkelmann, Juliane; Diehl‐Schmid, Janine; Levin, Johannes; Fellerer, Katrin; Reifschneider, Anika; Bultmann, Sebastian; Bartenstein, Peter; Rominger, Axel; Tahirovic, Sabina; Smith, Scott T.; Madore, Charlotte; Butovsky, Oleg; Capell, Anja und Haass, Christian (2019): Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism. In: Embo Molecular Medicine, Bd. 11, Nr. 6 [PDF, 1MB]

Winkelmann, Juliane; Allen, Richard P.; Högl, Birgit; Inoue, Yuichi; Oertel, Wolfgang; Salminen, Aaro V.; Winkelman, John W.; Trenkwalder, Claudia und Sampaio, Cristina (2018): Treatment of Restless Legs Syndrome: Evidence-Based Review and Implications for Clinical Practice (Revised 2017). In: Movement Disorders, Bd. 33, Nr. 7: S. 1077-1091

Pottier, Cyril; Zhou, Xiaolai; Perkerson, Ralph B. III; Baker, Matt; Jenkins, Gregory D.; Serie, Daniel J.; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; de Munain, Adolfo Lopez; Zulaica, Miren; Moreno, Fermin; Le Ber, Isabelle; Pasquier, Florence; Hannequin, Didier; Sanchez-Valle, Raquel; Antonell, Anna; Llado, Albert; Parsons, Tammee M.; Finch, Nicole A.; Finger, Elizabeth C.; Lippa, Carol F.; Huey, Edward D.; Neumann, Manuela; Heutink, Peter; Synofzik, Matthis; Wilke, Carlo; Rissman, Robert A.; Slawek, Jaroslaw; Sitek, Emilia; Johannsen, Peter; Nielsen, Jorgen E.; Ren, Yingxue; Blitterswijk, Marka van; DeJesus-Hernandez, Mariely; Christopher, Elizabeth; Murray, Melissa E.; Bieniek, Kevin F.; Evers, Bret M.; Ferrari, Camilla; Rollinson, Sara; Richardson, Anna; Scarpini, Elio; Fumagalli, Giorgio G.; Padovani, Alessandro; Hardy, John; Momeni, Parastoo; Ferrari, Raffaele; Frangipane, Francesca; Maletta, Raffaele; Anfossi, Maria; Gallo, Maura; Petrucelli, Leonard; Suh, EunRan; Lopez, Oscar L.; Wong, Tsz H.; van Rooij, Jeroen G. J.; Seelaar, Harro; Mead, Simon; Caselli, Richard J.; Reiman, Eric M.; Sabbagh, Marwan Noel; Kjolby, Mads; Nykjaer, Anders; Karydas, Anna M.; Boxer, Adam L.; Grinberg, Lea T.; Grafman, Jordan; Spina, Salvatore; Oblak, Adrian; Mesulam, M-Marsel; Weintraub, Sandra; Geula, Changiz; Hodges, John R.; Piguet, Olivier; Brooks, William S.; Irwin, David J.; Trojanowski, John Q.; Lee, Edward B.; Josephs, Keith A.; Parisi, Joseph E.; Ertekin-Taner, Nilufer; Knopman, David S.; Nacmias, Benedetta; Piaceri, Irene; Bagnoli, Silvia; Sorbi, Sandro; Gearing, Marla; Glass, Jonathan; Beach, Thomas G.; Black, Sandra E.; Masellis, Mario; Rogaeva, Ekaterina; Vonsattel, Jean-Paul; Honig, Lawrence S.; Kofler, Julia; Bruni, Amalia C.; Snowden, Julie; Mann, David; Pickering-Brown, Stuart; Diehl-Schmid, Janine; Winkelmann, Juliane; Galimberti, Daniela; Graff, Caroline; Oijerstedt, Linn; Troakes, Claire; Al-Sarraj, Safa; Cruchaga, Carlos; Cairns, Nigel J.; Rohrer, Jonathan D.; Halliday, Glenda M.; Kwok, John B.; Swieten, John C. van; White, Charles L. III; Ghetti, Bernardino; Murell, Jill R.; Mackenzie, Ian R. A.; Hsiung, Ging-Yuek R.; Borroni, Barbara; Rossi, Giacomina; Tagliavini, Fabrizio; Wszolek, Zbigniew K.; Petersen, Ronald C.; Bigio, Eileen H.; Grossman, Murray; Deerlin, Vivianna M. van; Seeley, William W.; Miller, Bruce L.; Graff-Radford, Neill R.; Boeve, Bradley F.; Dickson, Dennis W.; Biernacka, Joanna M. und Rademakers, Rosa (2018): Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. In: Lancet Neurology, Bd. 17, Nr. 6: S. 548-558

Salminen, Aaro V. und Winkelmann, Juliane (2018): Restless Legs Syndrome and Other Movement Disorders of SleepTreatment Update. In: Current Treatment Options in Neurology, Bd. 20, Nr. 12, 55

Trenkwalder, Claudia; Allen, Richard; Högl, Birgit; Clemens, Stefan; Patton, Stephanie; Schormair, Barbara und Winkelmann, Juliane (2018): Comorbidities, treatment, and pathophysiology in restless legs syndrome. In: Lancet Neurology, Bd. 17, Nr. 11: S. 994-1005

Salminen, Aaro V.; Schormair, Barbara; Flachskamm, Cornelia; Torres, Miguel; Müller-Myhsok, Bertram; Kimura, Mayumi und Winkelmann, Juliane (2018): Sleep disturbance by pramipexole is modified by Meis1 in mice. In: Journal of Sleep Research, Bd. 27, Nr. 4

Momozawa, Yukihide; Dmitrieva, Julia; Theatre, Emilie; Deffontaine, Valerie; Brand, Stephan; Glas, Jürgen und Winkelmann, Juliane (2018): IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes. In: Nature Communications, Bd. 9, 2427 [PDF, 1MB]

Salminen, Aaro V.; Garrett, Lillian; Schormair, Barbara; Rozman, Jan; Giesert, Florian; Niedermeier, Kristina M.; Becker, Lore; Rathkolb, Birgit; Racz, Ildiko; Klingenspor, Martin; Klopstock, Thomas; Wolf, Eckhard; Zimmer, Andreas; Gailus-Durner, Valerie; Torres, Miguel; Fuchs, Helmut; Hrabe de Angelis, Martin; Wurst, Wolfgang; Hölter, Sabine M. und Winkelmann, Juliane (2017): Meis1: effects on motor phenotypes and the sensorimotor system in mice. In: Disease Models & Mechanisms, Bd. 10, Nr. 8: S. 981-991

Schludi, Martin H.; Becker, Lore; Garrett, Lillian; Gendron, Tania F.; Zhou, Qihui; Schreiber, Franziska; Popper, Bastian; Dimou, Leda; Strom, Tim M.; Winkelmann, Juliane; Thaden, Anne von; Rentzsch, Kristin; May, Stephanie; Michaelsen, Meike; Schwenk, Benjamin M.; Tan, Jing; Schoser, Benedikt; Dieterich, Marianne; Petrucelli, Leonard; Hölter, Sabine M.; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Klopstock, Thomas; Arzberger, Thomas und Edbauer, Dieter (2017): Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss. In: Acta Neuropathologica, Bd. 134, Nr. 2: S. 241-254

Müller, Stefanie H.; Girard, Simon L.; Hopfner, Franziska; Merner, Nancy D.; Bourassa, Cynthia V.; Lorenz, Delia; Clark, Lorraine N.; Tittmann, Lukas; Soto-Ortolaza, Alexandra I.; Klebe, Stephan; Hallett, Mark; Schneider, Susanne A.; Hodgkinson, Colin A.; Lieb, Wolfgang; Wszolek, Zbigniew K.; Pendziwiat, Manuela; Lorenzo-Betancor, Oswaldo; Poewe, Werner; Ortega-Cubero, Sara; Seppi, Klaus; Rajput, Alex; Hussl, Anna; Rajput, Ali H.; Berg, Daniela; Dion, Patrick A.; Wurster, Isabel; Shulman, Joshua M.; Srulijes, Karin; Haubenberger, Dietrich; Pastor, Pau; Vilariño-Güell, Carles; Postuma, Ronald B.; Bernard, Geneviève; Ladwig, Karl-Heinz; Dupré, Nicolas; Jankovic, Joseph; Strauch, Konstantin; Panisset, Michel; Winkelmann, Juliane; Testa, Claudia M.; Zeuner, Kirsten E.; Reischl, Eva; Ross, Owen A.; Arzberger, Thomas; Chouinard, Sylvain; Deuschl, Günther; Louis, Elan D.; Kuhlenbäumer, Gregor und Rouleau, Guy A. (2016): Genome-wide association study in essential tremor identifies three new loci. In: Brain, Bd. 139: S. 3163-3169

Zech, Michael; Boesch, Sylvia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Laccone, Franco; Pilshofer, Veronika; Ceballos-Baumann, Andres; Alhaddad, Bader; Berutti, Riccardo; Poewe, Werner; Haack, Tobias B.; Haslinger, Bernhard; Strom, Tim M. und Winkelmann, Juliane (2016): Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. In: American Journal of Human Genetics, Bd. 99, Nr. 6: S. 1377-1387

Li, Jin; Jørgensen, Silje F.; Maggadottir, S. Melkorka; Bakay, Marina; Warnatz, Klaus; Glessner, Joseph; Pandey, Rahul; Salzer, Ulrich; Schmidt, Reinhold E.; Perez, Elena; Resnick, Elena; Goldacker, Sigune; Buchta, Mary; Witte, Torsten; Padyukov, Leonid; Videm, Vibeke; Folseraas, Trine; Atschekzei, Faranaz; Elder, James T.; Nair, Rajan P.; Winkelmann, Juliane; Gieger, Christian; Nöthen, Markus M.; Büning, Carsten; Brand, Stephan; Sullivan, Kathleen E.; Orange, Jordan S.; Fevang, Børre; Schreiber, Stefan; Lieb, Wolfgang; Aukrust, Pål; Chapel, Helen; Cunningham-Rundles, Charlotte; Franke, Andre; Karlsen, Tom H.; Grimbacher, Bodo; Hakonarson, Hakon; Hammarström, Lennart und Ellinghaus, Eva (2015): Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. In: Nature Communications, Bd. 6, 6804 [PDF, 807kB]

Mühlau, Mark; Winkelmann, Juliane; Rujescu, Dan; Giegling, Ina; Koutsouleris, Nikolaos; Gaser, Christian; Arsic, Milan; Weindl, Adolph; Reiser, Maximilian und Meisenzahl, Eva M. (2012): Variation within the Huntington's disease gene influences normal brain structure.
In: PLOS ONE 7(1), e29809 [PDF, 516kB]

Arnold, Matthias; Hartsperger, Mara L.; Baurecht, Hansjoerg; Rodriguez, Elke; Wachinger, Benedikt; Franke, Andre; Kabesch, Michael; Winkelmann, Juliane; Pfeufer, Arne; Romanos, Marcel; Illig, Thomas; Mewes, Hans-Werner; Stuempflen, Volker und Weidinger, Stephan (2012): Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases. In: BMC Genomics 13:490 [PDF, 2MB]

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 und Winkelmann, Juliane (Juli 2011): MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease. In: Journal of medical genetics, Bd. 48, Nr. 7: S. 462-466 [PDF, 131kB]

Winkelmann, Juliane; Czamara, Darina; Schormair, Barbara; Knauf, Franziska; Schulte, Eva C.; Trenkwalder, Claudia; Dauvilliers, Yves; Polo, Olli; Hoegl, 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; Vavrova, Jana; Kemlink, David; Sonka, Karel; Nevsimalova, Sona; Lin, Siong-Chi; Wszolek, Zbigniew; Vilarino-Gueell, 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, Heinz-Erich; Mueller-Myhsok, Bertram und Meitinger, Thomas (Juli 2011): Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1.
In: PLOS Genetics 7(7), e1002171 [PDF, 683kB]

Hopfner, Franziska; Schormair, Barbara; Knauf, Franziska; Berthele, Achim; Toelle, Thomas R.; Baron, Ralf; Maier, Christoph; Treede, Rolf-Detlef; Binder, Andreas; Sommer, Claudia; Maihoefner, Christian; Kunz, Wolfram; Zimprich, Friedrich; Heemann, Uwe; Pfeufer, Arne; Naebauer, Michael; Kaeaeb, Stefan; Nowak, Barbara; Gieger, Christian; Lichtner, Peter; Trenkwalder, Claudia; Oexle, Konrad und Winkelmann, Juliane (2011): Novel SCARB2 mutation in Action Myoclonus-Renal Failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. In: BMC Neurology 11:134 [PDF, 731kB]

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