Chair of Neurogenetics (2015 — 2023) - Research output

2014

Rare variants in LRRK1 and Parkinson's disease

Schulte, E. C., Ellwanger, D. C., Dihanich, S., Manzoni, C., Stangl, K., Schormair, B., Graf, E., Eck, S., Mollenhauer, B., Haubenberger, D., Pirker, W., Zimprich, A., Brücke, T., Lichtner, P., Peters, A., Gieger, C., Trenkwalder, C., Mewes, H. W., Meitinger, T. & Lewis, P. A. & 2 others, Klünemann, H. H. & Winkelmann, J., Mar 2014, In: Neurogenetics. 15, 1, p. 49-57 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

Schulte, E. C., Kousi, M., Tan, P. L., Tilch, E., Knauf, F., Lichtner, P., Trenkwalder, C., Högl, B., Frauscher, B., Berger, K., Fietze, I., Hornyak, M., Oertel, W. H., Bachmann, C. G., Zimprich, A., Peters, A., Gieger, C., Meitinger, T., Müller-Myhsok, B. & Katsanis, N. & 1 others, Winkelmann, J., 3 Jul 2014, In: American Journal of Human Genetics. 95, 1, p. 85-95 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

41 Scopus citations

2013

A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis

Mechelli, R., Umeton, R., Policano, C., Annibali, V., Coarelli, G., Ricigliano, V. A. G., Vittori, D., Fornasiero, A., Buscarinu, M. C., Romano, S., Salvetti, M., Ristori, G., Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C. C. A., Patsopoulos, N. A., Moutsianas, L., Dilthey, A. & Su, Z. & 233 others, Freeman, C., Hunt, S. E., Edkins, S., Gray, E., Booth, D. R., Potter, S. C., Goris, A., Band, G., Oturai, A. B., Strange, A., Saarela, J., Bellenguez, C., Fontaine, B., Gillman, M., Hemmer, B., Gwilliam, R., Zipp, F., Jayakumar, A., Martin, R., Leslie, S., Hawkins, S., Giannoulatou, E., D'alfonso, S., Blackburn, H., Boneschi, F. M., Liddle, J., Harbo, H. F., Perez, M. L., Spurkland, A., Waller, M. J., Mycko, M. P., Ricketts, M., Comabella, M., Hammond, N., Kockum, I., McCann, O. T., Ban, M., Whittaker, P., Kemppinen, A., Weston, P., Hawkins, C., Widaa, S., Zajicek, J., Dronov, S., Robertson, N., Bumpstead, S. J., Barcellos, L. F., Ravindrarajah, R., Abraham, R., Alfredsson, L., Ardlie, K., Aubin, C., Baker, A., Baker, K., Baranzini, S. E., Bergamaschi, L., Bergamaschi, R., Bernstein, A., Berthele, A., Boggild, M., Bradfield, J. P., Brassat, D., Broadley, S. A., Buck, D., Butzkueven, H., Capra, R., Carroll, W. M., Cavalla, P., Celius, E. G., Cepok, S., Chiavacci, R., Clerget-Darpoux, F., Clysters, K., Comi, G., Cossburn, M., Cournu-Rebeix, I., Cox, M. B., Cozen, W., Cree, B. A. C., Cross, A. H., Cusi, D., Daly, M. J., Davis, E., de Bakker, P. I. W., Debouverie, M., D'hooghe, M. B., Dixon, K., Dobosi, R., Dubois, B., Ellinghaus, D., Elovaara, I., Esposito, F., Fontenille, C., Foote, S., Franke, A., Galimberti, D., Ghezzi, A., Glessner, J., Gomez, R., Gout, O., Graham, C., Grant, S. F. A., Guerini, F. R., Hakonarson, H., Hall, P., Hamsten, A., Hartung, H. P., Heard, R. N., Heath, S., Hobart, J., Hoshi, M., Infante-Duarte, C., Ingram, G., Ingram, W., Islam, T., Jagodic, M., Kabesch, M., Kermode, A. G., Kilpatrick, T. J., Kim, C., Klopp, N., Koivisto, K., Larsson, M., Lathrop, M., Lechner-Scott, J. S., Leone, M. A., Leppä, V., Liljedahl, U., Bomfim, I. L., Lincoln, R. R., Link, J., Liu, J., Lorentzen, Å. R., Lupoli, S., Macciardi, F., Mack, T., Marriott, M., Martinelli, V., Mason, D., McCauley, J. L., Mentch, F., Mero, I. L., Mihalova, T., Montalban, X., Mottershead, J., Myhr, K. M., Naldi, P., Ollier, W., Page, A., Palotie, A., Pelletier, J., Piccio, L., Pickersgill, T., Piehl, F., Pobywajlo, S., Quach, H. L., Ramsay, P. P., Reunanen, M., Reynolds, R., Rioux, J. D., Rodegher, M., Roesner, S., Rubio, J. P., Rückert, I. M., Salvi, E., Santaniello, A., Schaefer, C. A., Schreiber, S., Schulze, C., Scott, R. J., Sellebjerg, F., Selmaj, K. W., Sexton, D., Shen, L., Simms-Acuna, B., Skidmore, S., Sleiman, P. M. A., Smestad, C., Sørensen, P. S., Søndergaard, H. B., Stankovich, J., Strange, R. C., Sulonen, A. M., Sundqvist, E., Syvänen, A. C., Taddeo, F., Taylor, B., Blackwell, J. M., Tienari, P., Bramon, E., Tourbah, A., Brown, M. A., Tronczynska, E., Casas, J. P., Tubridy, N., Corvin, A., Vickery, J., Jankowski, J., Villoslada, P., Markus, H. S., Wang, K., Mathew, C. G., Wason, J., Palmer, C. N. A., Wichmann, H. E., Plomin, R., Willoughby, E., Rautanen, A., Winkelmann, J., Wittig, M., Trembath, R. C., Yaouanq, J., Viswanathan, A. C., Zhang, H., Wood, N. W., Zuvich, R., Deloukas, P., Langford, C., Duncanson, A., Oksenberg, J. R., Pericak-Vance, M. A., Haines, J. L., Olsson, T., Hillert, J., Ivinson, A. J., De Jager, P. L., Peltonen, L., Stewart, G. J., Hafler, D. A., Hauser, S. L., McVean, G., Donnelly, P. & Compston, A., 16 May 2013, In: PLoS ONE. 8, 5, e63300.

Research output: Contribution to journal › Article › peer-review

Open Access

30 Scopus citations

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Beecham, A. H., Patsopoulos, N. A., Xifara, D. K., Davis, M. F., Kemppinen, A., Cotsapas, C., Shah, T. S., Spencer, C., Booth, D., Goris, A., Oturai, A., Saarela, J., Fontaine, B., Hemmer, B., Martin, C., Zipp, F., D'Alfonso, S., Martinelli-Boneschi, F., Taylor, B. & Harbo, H. F. & 173 others, Kockum, I., Hillert, J., Olsson, T., Ban, M., Oksenberg, J. R., Hintzen, R., Barcellos, L. F., Agliardi, C., Alfredsson, L., Alizadeh, M., Anderson, C., Andrews, R., Søndergaard, H. B., Baker, A., Band, G., Baranzini, S. E., Barizzone, N., Barrett, J., Bellenguez, C., Bergamaschi, L., Bernardinelli, L., Berthele, A., Biberacher, V., Binder, T. M. C., Blackburn, H., Bomfim, I. L., Brambilla, P., Broadley, S., Brochet, B., Brundin, L., Buck, D., Butzkueven, H., Caillier, S. J., Camu, W., Carpentier, W., Cavalla, P., Celius, E. G., Coman, I., Comi, G., Corrado, L., Cosemans, L., Cournu-Rebeix, I., Cree, B. A. C., Cusi, D., Damotte, V., Defer, G., Delgado, S. R., Deloukas, P., Di Sapio, A., Dilthey, A. T., Donnelly, P., Dubois, B., Duddy, M., Edkins, S., Elovaara, I., Esposito, F., Evangelou, N., Fiddes, B., Field, J., Franke, A., Freeman, C., Frohlich, I. Y., Galimberti, D., Gieger, C., Gourraud, P. A., Graetz, C., Graham, A., Grummel, V., Guaschino, C., Hadjixenofontos, A., Hakonarson, H., Halfpenny, C., Hall, G., Hall, P., Hamsten, A., Harley, J., Harrower, T., Hawkins, C., Hellenthal, G., Hillier, C., Hobart, J., Hoshi, M., Hunt, S. E., Jagodic, M., Jelcic, I., Jochim, A., Kendall, B., Kermode, A., Kilpatrick, T., Koivisto, K., Konidari, I., Korn, T., Kronsbein, H., Langford, C., Larsson, M., Lathrop, M., Lebrun-Frenay, C., Lechner-Scott, J., Lee, M. H., Leone, M. A., Leppä, V., Liberatore, G., Lie, B. A., Lill, C. M., Lindén, M., Link, J., Luessi, F., Lycke, J., Macciardi, F., Männistö, S., Manrique, C. P., Martin, R., Martinelli, V., Mason, D., Mazibrada, G., McCabe, C., Mero, I. L., Mescheriakova, J., Moutsianas, L., Myhr, K. M., Nagels, G., Nicholas, R., Nilsson, P., Piehl, F., Pirinen, M., Price, S. E., Quach, H., Reunanen, M., Robberecht, W., Robertson, N. P., Rodegher, M., Rog, D., Salvetti, M., Schnetz-Boutaud, N. C., Sellebjerg, F., Selter, R. C., Schaefer, C., Shaunak, S., Shen, L., Shields, S., Siffrin, V., Slee, M., Sorensen, P. S., Sorosina, M., Sospedra, M., Spurkland, A., Strange, A., Sundqvist, E., Thijs, V., Thorpe, J., Ticca, A., Tienari, P., Van Duijn, C., Visser, E. M., Vucic, S., Westerlind, H., Wiley, J. S., Wilkins, A., Wilson, J. F., Winkelmann, J., Zajicek, J., Zindler, E., Haines, J. L., Pericak-Vance, M. A., Ivinson, A. J., Stewart, G., Hafler, D., Hauser, S. L., Compston, A., McVean, G., De Jager, P., Sawcer, S. J. & McCauley, J. L., Nov 2013, In: Nature Genetics. 45, 11, p. 1353-1362 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1095 Scopus citations

Association between variants of PRDM1 and NDP52 and crohn's disease, based on exome sequencing and functional studies

Ellinghaus, D., Zhang, H., Zeissig, S., Lipinski, S., Till, A., Jiang, T., Stade, B., Bromberg, Y., Ellinghaus, E., Keller, A., Rivas, M. A., Skieceviciene, J., Doncheva, N. T., Liu, X., Liu, Q., Jiang, F., Forster, M., Mayr, G., Albrecht, M. & Häsler, R. & 41 others, Boehm, B. O., Goodall, J., Berzuini, C. R., Lee, J., Andersen, V., Vogel, U., Kupcinskas, L., Kayser, M., Krawczak, M., Nikolaus, S., Weersma, R. K., Ponsioen, C. Y., Sans, M., Wijmenga, C., Strachan, D. P., McArdle, W. L., Vermeire, S., Rutgeerts, P., Sanderson, J. D., Mathew, C. G., Vatn, M. H., Wang, J., Nöthen, M. M., Duerr, R. H., Büning, C., Brand, S., Glas, J., Winkelmann, J., Illig, T., Latiano, A., Annese, V., Halfvarson, J., D'Amato, M., Daly, M. J., Nothnagel, M., Karlsen, T. H., Subramani, S., Rosenstiel, P., Schreiber, S., Parkes, M. & Franke, A., Aug 2013, In: Gastroenterology. 145, 2, p. 339-347 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

128 Scopus citations

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

Liu, J. Z., Hov, J. R., Folseraas, T., Ellinghaus, E., Rushbrook, S. M., Doncheva, N. T., Andreassen, O. A., Weersma, R. K., Weismüller, T. J., Eksteen, B., Invernizzi, P., Hirschfield, G. M., Gotthardt, D. N., Pares, A., Ellinghaus, D., Shah, T., Juran, B. D., Milkiewicz, P., Rust, C. & Schramm, C. & 64 others, Muler, T., Srivastava, B., Dalekos, G., Nöthen, M. M., Herms, S., Winkelmann, J., Mitrovic, M., Braun, F., Ponsioen, C. Y., Croucher, P. J. P., Sterneck, M., Teufel, A., Andrew L Mason, L. M., Saarela, J., Leppa, V., Dorfman, R., Alvaro, D., Floreani, A., Onengut-Gumuscu, S., Rich, S. S., Thompson, W. K., Schork, A. J., Næss, S., Thomsen, I., Mayr, G., König, I. R., Hveem, K., Cleynen, I., Gutierrez-Achury, J., Ricaño-Ponce, I., Van Heel, D., Björnsson, E., Sandford, R. N., Durie, P. R., Melum, E., Vatn, M. H., Silverberg, M. S., Duerr, R. H., Padyukov, L., Brand, S., Sans, M., Annese, V., Achkar, J. P., Boberg, K. M., Marschall, H. U., Chazouillères, O., Bowlus, C. L., Wijmenga, C., Schrumpf, E., Vermeire, S., Albrecht, M., Rioux, J. D., Alexander, G., Bergquist, A., Cho, J., Schreiber, S., Manns, M. P., Färkkilä, M., Dale, A. M., Chapman, R. W., Konstantinos N Lazaridis, N. L., Franke, A., Anderson, C. A. & Karlsen, T. H., Jun 2013, In: Nature Genetics. 45, 6, p. 670-675 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

332 Scopus citations

Familial and Genetic Factors of Restless Legs Syndrome

Winkelmann, J., 1 Jan 2013, Encyclopedia of Sleep. Elsevier Inc., p. 22-28 7 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Familial and Genetic Factors of Restless Legs Syndrome

Winkelmann, J., 1 Jan 2013, Encyclopedia of Sleep. Elsevier, p. V4-22-V4-28

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis

Buck, D., Albrecht, E., Aslam, M., Goris, A., Hauenstein, N., Jochim, A., Cepok, S., Grummel, V., Dubois, B., Berthele, A., Lichtner, P., Gieger, C., Winkelmann, J. & Hemmer, B., Jan 2013, In: Annals of Neurology. 73, 1, p. 86-94 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

37 Scopus citations

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

Ellinghaus, D., Baurecht, H., Esparza-Gordillo, J., Rodríguez, E., Matanovic, A., Marenholz, I., Hübner, N., Schaarschmidt, H., Novak, N., Michel, S., Maintz, L., Werfel, T., Meyer-Hoffert, U., Hotze, M., Prokisch, H., Heim, K., Herder, C., Hirota, T., Tamari, M. & Kubo, M. & 29 others, Takahashi, A., Nakamura, Y., Tsoi, L. C., Stuart, P., Elder, J. T., Sun, L., Zuo, X., Yang, S., Zhang, X., Hoffmann, P., Nöthen, M. M., Fölster-Holst, R., Winkelmann, J., Illig, T., Boehm, B. O., Duerr, R. H., Büning, C., Brand, S., Glas, J., McAleer, M. A., Fahy, C. M., Kabesch, M., Brown, S., McLean, W. H. I., Irvine, A. D., Schreiber, S., Lee, Y. A., Franke, A. & Weidinger, S., Jul 2013, In: Nature Genetics. 45, 7, p. 808-812 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

157 Scopus citations

Niemann-pick C disease gene mutations and age-related neurodegenerative disorders

Zech, M., Nübling, G., Castrop, F., Jochim, A., Schulte, E. C., Mollenhauer, B., Lichtner, P., Peters, A., Gieger, C., Marquardt, T., Vanier, M. T., Latour, P., Klünemann, H., Trenkwalder, C., Diehl-Schmid, J., Perneczky, R., Meitinger, T., Oexle, K., Haslinger, B. & Lorenzl, S. & 1 others, Winkelmann, J., 30 Dec 2013, In: PLoS ONE. 8, 12, e82879.

Research output: Contribution to journal › Article › peer-review

Open Access

48 Scopus citations

Rare variants in PLXNA4 and Parkinson's disease

Schulte, E. C., Stahl, I., Czamara, D., Ellwanger, D. C., Eck, S., Graf, E., Mollenhauer, B., Zimprich, A., Lichtner, P., Haubenberger, D., Pirker, W., Brücke, T., Bereznai, B., Molnar, M. J., Peters, A., Gieger, C., Müller-Myhsok, B., Trenkwalder, C. & Winkelmann, J., 11 Nov 2013, In: PLoS ONE. 8, 11, e79145.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

Suicidal ideation in a European Huntington's disease population

The REGISTRY investigators of the European Huntington's Disease Network, 1 Oct 2013, In: Journal of Affective Disorders. 151, 1, p. 248-258 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

64 Scopus citations

When restless legs syndrome turns malignant.

Schulte, E. C., Gross, N., Slawik, H. & Winkelmann, J., Jun 2013, In: Sleep Medicine. 14, 6, p. 575-577 3 p.

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

2012

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Schumm, L. P., Sharma, Y., Anderson, C. A., Essers, J., Mitrovic, M., Ning, K., Cleynen, I., Theatre, E., Spain, S. L., Raychaudhuri, S., Goyette, P., Wei, Z. & Abraham, C. & 86 others, Achkar, J. P., Ahmad, T., Amininejad, L., Ananthakrishnan, A. N., Andersen, V., Andrews, J. M., Baidoo, L., Balschun, T., Bampton, P. A., Bitton, A., Boucher, G., Brand, S., Büning, C., Cohain, A., Cichon, S., D’amato, M., Jong, D. D., Devaney, K. L., Dubinsky, M., Edwards, C., Ellinghaus, D., Ferguson, L. R., Franchimont, D., Fransen, K., Gearry, R., Georges, M., Gieger, C., Glas, J., Haritunians, T., Hart, A., Hawkey, C., Hedl, M., Hu, X., Karlsen, T. H., Kupcinskas, L., Kugathasan, S., Latiano, A., Laukens, D., Lawrance, I. C., Lees, C. W., Louis, E., Mahy, G., Mansfield, J., Morgan, A. R., Mowat, C., Newman, W., Palmieri, O., Ponsioen, C. Y., Potocnik, U., Prescott, N. J., Regueiro, M., Rotter, J. I., Russell, R. K., Sanderson, J. D., Sans, M., Satsangi, J., Schreiber, S., Simms, L. A., Sventoraityte, J., Targan, S. R., Taylor, K. D., Tremelling, M., Verspaget, H. W., Vos, M. D., Wijmenga, C., Wilson, D. C., Winkelmann, J., Xavier, R. J., Zeissig, S., Zhang, B., Zhang, C. K., Zhao, H., Silverberg, M. S., Annese, V., Hakonarson, H., Brant, S. R., Radford-Smith, G., Mathew, C. G., Rioux, J. D., Schadt, E. E., Daly, M. J., Franke, A., Parkes, M., Vermeire, S., Barrett, J. C. & Cho, J. H., 1 Nov 2012, In: Nature. 491, 7422, p. 119-124 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3729 Scopus citations

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Tsoi, L. C., Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., Ding, J., Li, Y., Tejasvi, T., Gudjonsson, J. E., Kang, H. M., Allen, M. H., McManus, R., Novelli, G., Samuelsson, L., Schalkwijk, J., Ståhle, M., Burden, A. D., Smith, C. H. & Cork, M. J. & 180 others, Estivill, X., Bowcock, A. M., Krueger, G. G., Weger, W., Worthington, J., Tazi-Ahnini, R., Nestle, F. O., Hayday, A., Hoffmann, P., Winkelmann, J., Wijmenga, C., Langford, C., Edkins, S., Andrews, R., Blackburn, H., Strange, A., Band, G., Pearson, R. D., Vukcevic, D., Spencer, C. C. A., Deloukas, P., Mrowietz, U., Schreiber, S., Weidinger, S., Koks, S., Kingo, K., Esko, T., Metspalu, A., Lim, H. W., Voorhees, J. J., Weichenthal, M., Wichmann, H. E., Chandran, V., Rosen, C. F., Rahman, P., Gladman, D. D., Griffiths, C. E. M., Reis, A., Kere, J., Nnair, R. P., Franke, A., Barker, J. N., Abecasis, G. R., Eelder, J. T., Ttrembath, R., Duffin, K. C., Helms, C., Goldgar, D., Paschall, J., Malloy, M. J., Pullinger, C. R., Kane, J. P., Gardner, J., Perlmutter, A., Miner, A., Feng, B. J., Hiremagalore, R., Ike, R. W., Christophers, E., Henseler, T., Ruether, A., Schrodi, S. J., Prahalad, S., Guthery, S. L., Fischer, J., Liao, W., Kwok, P., Menter, A., Lathrop, G. M., Wise, C., Begovich, A. B., Onoufriadis, A., Weale, M. E., Hofer, A., Salmhofer, W., Wolf, P., Kainu, K., Saarialho-Kere, U., Suomela, S., Badorf, P., Hüffmeier, U., Kurrat, W., Küster, W., Lascorz, J., Mössner, R., Schürmeier-Horst, F., Ständer, M., Traupe, H., Bergboer, J. G. M., Heijer, M. D., Van De Kerkhof, P. C., Zeeuwen, P. L. J. M., Barnes, L., Campbell, L. E., Cusack, C., Coleman, C., Conroy, J., Ennis, S., Fitzgerald, O., Gallagher, P., Irvine, A. D., Kirby, B., Markham, T., McLean, W. H. I., McPartlin, J., Rogers, S. F., Ryan, A. W., Zawirska, A., Giardina, E., Lepre, T., Perricone, C., Martín-Ezquerra, G., Pujol, R. M., Riveira-Munoz, E., Inerot, A., Naluai, Å. T., Mallbris, L., Wolk, K., Leman, J., Barton, A., Warren, R. B., Young, H. S., Ricano-Ponce, I., Trynka, G., Pellett, F. J., Henschel, A., Aurand, M., Bebo, B., Gieger, C., Illig, T., Moebus, S., Jöckel, K. H., Erbel, R., Donnelly, P., Peltonen, L., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Craddock, N., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., McCarthy, M. I., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Samani, N., Viswanathan, A. C., Wood, N. W., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Su, Z., Hunt, S. E., Gwilliam, R., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Perez, M. L., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Neir, R. P., Elder, J. T. & Trembath, R. C., 1 Dec 2012, In: Nature Genetics. 44, 12, p. 1341-1348 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

807 Scopus citations

Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases

Arnold, M., Hartsperger, M. L., Baurecht, H., Rodríguez, E., Wachinger, B., Franke, A., Kabesch, M., Winkelmann, J., Pfeufer, A., Romanos, M., Illig, T., Mewes, H. W., Stümpflen, V. & Weidinger, S., 18 Sep 2012, In: BMC Genomics. 13, 1, 490.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes.

Ried, J. S., Döring, A., Oexle, K., Meisinger, C., Winkelmann, J., Klopp, N., Meitinger, T., Peters, A., Suhre, K., Wichmann, H. E. & Gieger, C., Apr 2012, In: Genetic epidemiology. 36, 3, p. 244-252 9 p.

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

Restless legs syndrome in Czech patients with multiple sclerosis: An epidemiological and genetic study

Vávrová, J., Kemlink, D., Šonka, K., Havrdová, E., Horáková, D., Pardini, B., Müller-Myhsok, B. & Winkelmann, J., Aug 2012, In: Sleep Medicine. 13, 7, p. 848-851 4 p.

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease

Schulte, E. C., Mollenhauer, B., Zimprich, A., Bereznai, B., Lichtner, P., Haubenberger, D., Pirker, W., Brücke, T., Molnar, M. J., Peters, A., Gieger, C., Trenkwalder, C. & Winkelmann, J., Aug 2012, In: Neurogenetics. 13, 3, p. 281-285 5 p.

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

Variation within the Huntington's disease gene influences normal brain structure

Mühlau, M., Winkelmann, J., Rujescu, D., Giegling, I., Koutsouleris, N., Gaser, C., Arsic, M., Weindl, A., Reiser, M. & Meisenzahl, E. M., 3 Jan 2012, In: PLoS ONE. 7, 1, e29809.

Research output: Contribution to journal › Article › peer-review

Open Access

31 Scopus citations

2011

Absence of an orphan mitochondrial protein, C19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

Hartig, M. B., Iuso, A., Haack, T., Kmiec, T., Jurkiewicz, E., Heim, K., Roeber, S., Tarabin, V., Dusi, S., Krajewska-Walasek, M., Jozwiak, S., Hempel, M., Winkelmann, J., Elstner, M., Oexle, K., Klopstock, T., Mueller-Felber, W., Gasser, T., Trenkwalder, C. & Tiranti, V. & 5 others, Kretzschmar, H., Schmitz, G., Strom, T. M., Meitinger, T. & Prokisch, H., 7 Oct 2011, In: American Journal of Human Genetics. 89, 4, p. 543-550 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

222 Scopus citations

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset parkinson disease

Zimprich, A., Benet-Pagès, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., Rossle, S. C., Klopp, N., Wolf, E., Seppi, K., Pirker, W., Presslauer, S., Mollenhauer, B., Katzenschlager, R., Foki, T. & Hotzy, C. & 14 others, Reinthaler, E., Harutyunyan, A., Kralovics, R., Peters, A., Zimprich, F., Brücke, T., Poewe, W., Auff, E., Trenkwalder, C., Rost, B., Ransmayr, G., Winkelmann, J., Meitinger, T. & Strom, T. M., 15 Jul 2011, In: American Journal of Human Genetics. 89, 1, p. 168-175 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

704 Scopus citations

Common variants at 10 genomic loci influence hemoglobin A_1C levels via glycemic and nonglycemic pathways (Diabetes (2010) 59, (3229-3239))

Soranzo, N., Sanna, S., Wheeler, E., Gieger, C., Radke, D., Dupuis, J., Bouatia-Naji, N., Langenberg, C., Prokopenko, I., Stolerman, E., Sandhu, M. S., Heeney, M. M., Devaney, J. M., Reilly, M. P., Ricketts, S. L., Stewart, A. F. R., Voight, B. F., Willenborg, C., Wright, B. & Altshuler, D. & 157 others, Arking, D., Balkau, B., Barnes, D., Boerwinkle, E., Böhm, B., Bonnefond, A., Bonnycastle, L. L., Boomsma, D. I., Bornstein, S. R., Böttcher, Y., Bumpstead, S., Burnett-Miller, M. S., Campbell, H., Cao, A., Chambers, J., Clark, R., Collins, F. S., Coresh, J., De Geus, E. J. C., Dei, M., Deloukas, P., Döring, A., Egan, J. M., Elosua, R., Ferrucci, L., Forouhi, N., Fox, C. S., Franklin, C., Franzosi, M. G., Gallina, S., Goel, A., Graessler, J., Grallert, H., Greinacher, A., Hadley, D., Hall, A., Hamsten, A., Hayward, C., Heath, S., Herder, C., Homuth, G., Hottenga, J. J., Hunter-Merrill, R., Illig, T., Jackson, A. U., Jula, A., Kleber, M., Knouff, C. W., Kong, A., Kooner, J., Köttgen, A., Kovacs, P., Krohn, K., Kühnel, B., Kuusisto, J., Laakso, M., Lathrop, M., Lecoeur, C., Li, M., Li, M., Loos, R. J. F., Luan, J., Lyssenko, V., Mägi, R., Magnusson, P. K. E., Mälarstig, A., Mangino, M., Martínez-Larrad, M. T., März, W., McArdle, W. L., McPherson, R., Meisinger, C., Meitinger, T., Melander, O., Mohlke, K. L., Mooser, V. E., Morken, M. A., Narisu, N., Nathan, D. M., Nauck, M., O'Donnell, C., Oexle, K., Olla, N., Pankow, J. S., Payne, F., Peden, J. F., Pedersen, N. L., Peltonen, L., Perola, M., Polasek, O., Porcu, E., Rader, D. J., Rathmann, W., Ripatti, S., Rocheleau, G., Roden, M., Rudan, I., Salomaa, V., Saxena, R., Schlessinger, D., Schunkert, H., Schwarz, P., Seedorf, U., Selvin, E., Serrano-Ríos, M., Shrader, P., Silveira, A., Siscovick, D., Song, K., Spector, T. D., Stefansson, K., Steinthorsdottir, V., Strachan, D. P., Strawbridge, R., Stumvoll, M., Surakka, I., Swift, A. J., Tanaka, T., Teumer, A., Thorleifsson, G., Thorsteinsdottir, U., Tönjes, A., Usala, G., Vitart, V., Völzke, H., Wallaschofski, H., Waterworth, D. M., Watkins, H., Wichmann, H. E., Wild, S. H., Willemsen, G., Williams, G. H., Wilson, J. F., Winkelmann, J., Wright, A. F., Zabena, C., Zhao, J. H., Epstein, S. E., Erdmann, J., Hakonarson, H. H., Kathiresan, S., Khaw, K. T., Roberts, R., Samani, N. J., Fleming, M. D., Sladek, R., Abecasis, G., Boehnke, M., Froguel, P., Groop, L., McCarthy, M. I., Kao, W. H. L., Florez, J. C., Uda, M., Wareham, N. J., Barroso, I. & Meigs, J. B., Mar 2011, In: Diabetes. 60, 3, p. 1051 1 p.

Research output: Contribution to journal › Comment/debate

1 Scopus citations

Common variants in P2RY11 are associated with narcolepsy

Kornum, B. R., Kawashima, M., Faraco, J., Lin, L., Rico, T. J., Hesselson, S., Axtell, R. C., Kuipers, H., Weiner, K., Hamacher, A., Kassack, M. U., Han, F., Knudsen, S., Li, J., Dong, X., Winkelmann, J., Plazzi, G., Nevsimalova, S., Hong, S. C. & Honda, Y. & 40 others, Honda, M., Högl, B., Ton, T. G. N., Montplaisir, J., Bourgin, P., Kemlink, D., Huang, Y. S., Warby, S., Einen, M., Eshragh, J. L., Miyagawa, T., Desautels, A., Ruppert, E., Hesla, P. E., Poli, F., Pizza, F., Frauscher, B., Jeong, J. H., Lee, S. P., Strohl, K. P., Longstreth, W. T., Kvale, M., Dobrovolna, M., Ohayon, M. M., Nepom, G. T., Wichmann, H. E., Rouleau, G. A., Gieger, C., Levinson, D. F., Gejman, P. V., Meitinger, T., Peppard, P., Young, T., Jennum, P., Steinman, L., Tokunaga, K., Kwok, P. Y., Risch, N., Hallmayer, J. & Mignot, E., Jan 2011, In: Nature Genetics. 43, 1, p. 66-71 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

188 Scopus citations

Erratum: Common variants in P2RY11 are associated with narcolepsy (Nature Genetics (2011) 43 (66-71))

Kornum, B. R., Kawashima, M., Faraco, J., Lin, L., Rico, T. J., Hesselson, S., Axtell, R. C., Kuipers, H., Weiner, K., Hamacher, A., Kassack, M. U., Han, F., Knudsen, S., Li, J., Dong, X., Winkelmann, J., Plazzi, G., Nevsimalova, S., Hong, S. C. & Honda, Y. & 40 others, Honda, M., Högl, B., Ton, T. G. N., Montplaisir, J., Bourgin, P., Kemlink, D., Huang, Y. S., Warby, S., Einen, M., Eshragh, J. L., Miyagawa, T., Desautels, A., Ruppert, E., Hesla, P. E., Poli, F., Pizza, F., Frauscher, B., Jeong, J. H., Lee, S. P., Strohl, K. P., Longstreth, W. T., Kvale, M., Dobrovolna, M., Ohayon, M. M., Nepom, G. T., Wichmann, H. E., Rouleau, G. A., Gieger, C., Levinson, D. F., Gejman, P. V., Meitinger, T., Peppard, P., Young, T., Jennum, P., Steinman, L., Tokunaga, K., Kwok, P. Y., Risch, N., Hallmayer, J. & Mignot, E., Oct 2011, In: Nature Genetics. 43, 10, p. 1040 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C. C. A., Patsopoulos, N. A., Moutsianas, L., Dilthey, A., Su, Z., Freeman, C., Hunt, S. E., Edkins, S., Gray, E., Booth, D. R., Potter, S. C., Goris, A., Band, G., Oturai, A. B., Strange, A., Saarela, J. & Bellenguez, C. & 222 others, Fontaine, B., Gillman, M., Hemmer, B., Gwilliam, R., Zipp, F., Jayakumar, A., Martin, R., Leslie, S., Hawkins, S., Giannoulatou, E., D'Alfonso, S., Blackburn, H., Boneschi, F. M., Liddle, J., Harbo, H. F., Perez, M. L., Spurkland, A., Waller, M. J., Mycko, M. P., Ricketts, M., Comabella, M., Hammond, N., Kockum, I., McCann, O. T., Ban, M., Whittaker, P., Kemppinen, A., Weston, P., Hawkins, C., Widaa, S., Zajicek, J., Dronov, S., Robertson, N., Bumpstead, S. J., Barcellos, L. F., Ravindrarajah, R., Abraham, R., Alfredsson, L., Ardlie, K., Aubin, C., Baker, A., Baker, K., Baranzini, S. E., Bergamaschi, L., Bergamaschi, R., Bernstein, A., Berthele, A., Boggild, M., Bradfield, J. P., Brassat, D., Broadley, S. A., Buck, D., Butzkueven, H., Capra, R., Carroll, W. M., Cavalla, P., Celius, E. G., Cepok, S., Chiavacci, R., Clerget-Darpoux, F., Clysters, K., Comi, G., Cossburn, M., Cournu-Rebeix, I., Cox, M. B., Cozen, W., Cree, B. A. C., Cross, A. H., Cusi, D., Daly, M. J., Davis, E., De Bakker, P. I. W., Debouverie, M., D'Hooghe, M. B., Dixon, K., Dobosi, R., Dubois, B., Ellinghaus, D., Elovaara, I., Esposito, F., Fontenille, C., Foote, S., Franke, A., Galimberti, D., Ghezzi, A., Glessner, J., Gomez, R., Gout, O., Graham, C., Grant, S. F. A., Guerini, F. R., Hakonarson, H., Hall, P., Hamsten, A., Hartung, H. P., Heard, R. N., Heath, S., Hobart, J., Hoshi, M., Infante-Duarte, C., Ingram, G., Ingram, W., Islam, T., Jagodic, M., Kabesch, M., Kermode, A. G., Kilpatrick, T. J., Kim, C., Klopp, N., Koivisto, K., Larsson, M., Lathrop, M., Lechner-Scott, J. S., Leone, M. A., Leppä, V., Liljedahl, U., Bomfim, I. L., Lincoln, R. R., Link, J., Liu, J., Lorentzen, A. R., Lupoli, S., MacCiardi, F., MacK, T., Marriott, M., Martinelli, V., Mason, D., McCauley, J. L., Mentch, F., Mero, I. L., Mihalova, T., Montalban, X., Mottershead, J., Myhr, K. M., Naldi, P., Ollier, W., Page, A., Palotie, A., Pelletier, J., Piccio, L., Pickersgill, T., Piehl, F., Pobywajlo, S., Quach, H. L., Ramsay, P. P., Reunanen, M., Reynolds, R., Rioux, J. D., Rodegher, M., Roesner, S., Rubio, J. P., Rückert, I. M., Salvetti, M., Salvi, E., Santaniello, A., Schaefer, C. A., Schreiber, S., Schulze, C., Scott, R. J., Sellebjerg, F., Selmaj, K. W., Sexton, D., Shen, L., Simms-Acuna, B., Skidmore, S., Sleiman, P. M. A., Smestad, C., Sørensen, P. S., Søndergaard, H. B., Stankovich, J., Strange, R. C., Sulonen, A. M., Sundqvist, E., Syvänen, A. C., Taddeo, F., Taylor, B., Blackwell, J. M., Tienari, P., Bramon, E., Tourbah, A., Brown, M. A., Tronczynska, E., Casas, J. P., Tubridy, N., Corvin, A., Vickery, J., Jankowski, J., Villoslada, P., Markus, H. S., Wang, K., Mathew, C. G., Wason, J., Palmer, C. N. A., Wichmann, E., Plomin, R., Willoughby, E., Rautanen, A., Winkelmann, J., Wittig, M., Trembath, R. C., Yaouanq, J., Viswanathan, A. C., Zhang, H., Wood, N. W., Zuvich, R., Deloukas, P., Langford, C., Duncanson, A., Oksenberg, J. R., Pericak-Vance, M. A., Haines, J. L., Olsson, T., Hillert, J., Ivinson, A. J., De Jager, P. L., Peltonen, L., Stewart, G. J., Hafler, D. A., Hauser, S. L., McVean, G., Donnelly, P. & Compston, A., 11 Aug 2011, In: Nature. 476, 7359, p. 214-219 6 p.

Research output: Contribution to journal › Letter › peer-review

Open Access

2223 Scopus citations

Genome-Wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

Winkelmann, J., Czamara, D., Schormair, B., Knauf, F., Schulte, E. C., Trenkwalder, C., Dauvilliers, Y., Polo, O., Högl, B., Berger, K., Fuhs, A., Gross, N., Stiasny-Kolster, K., Oertel, W., Bachmann, C. G., Paulus, W., Xiong, L., Montplaisir, J., Rouleau, G. A. & Fietze, I. & 37 others, Vávrová, J., Kemlink, D., Sonka, K., Nevsimalova, S., Lin, S. C., Wszolek, Z., Vilariño-Güell, C., Farrer, M. J., Gschliesser, V., Frauscher, B., Falkenstetter, T., Poewe, W., Allen, R. P., Earley, C. J., Ondo, W. G., Le, W. D., Spieler, D., Kaffe, M., Zimprich, A., Kettunen, J., Perola, M., Silander, K., Cournu-Rebeix, I., Francavilla, M., Fontenille, C., Fontaine, B., Vodicka, P., Prokisch, H., Lichtner, P., Peppard, P., Faraco, J., Mignot, E., Gieger, C., Illig, T., Wichmann, H. E., Müller-Myhsok, B. & Meitinger, T., Jul 2011, In: PLoS Genetics. 7, 7, e1002171.

Research output: Contribution to journal › Article › peer-review

Open Access

153 Scopus citations

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

Schormair, B., Plag, J., Kaffe, M., Groß, N., Czamara, D., Samtleben, W., Lichtner, P., Ströhle, A., Stefanidis, I., Vainas, A., Dardiotis, E., Sakkas, G. K., Gieger, C., Müller-Myhsok, B., Meitinger, T., Heemann, U., Hadjigeorgiou, G. M., Oexle, K. & Winkelmann, J., Jul 2011, In: Journal of Medical Genetics. 48, 7, p. 462-466 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

54 Scopus citations

Myoclonus-dystonia in 18p deletion syndrome

Kowarik, M. C., Langer, S., Keri, C., Hemmer, B., Oexle, K. & Winkelmann, J., 15 Feb 2011, In: Movement Disorders. 26, 3, p. 560-561 2 p.

Research output: Contribution to journal › Letter › peer-review

17 Scopus citations

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

Oexle, K., Ried, J. S., Hicks, A. A., Tanaka, T., Hayward, C., Bruegel, M., Gögele, M., Lichtner, P., Müller-Myhsok, B., Döring, A., Illig, T., Schwienbacher, C., Minelli, C., Pichler, I., Fiedler, G. M., Thiery, J., Rudan, I., Wright, A. F., Campbell, H. & Ferrucci, L. & 6 others, Bandinelli, S., Pramstaller, P. P., Wichmann, H. E., Gieger, C., Winkelmann, J. & Meitinger, T., Mar 2011, In: Human Molecular Genetics. 20, 5, p. 1042-1047 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

60 Scopus citations

The genetic association of variants in CD6, TNFRSF1A and IRF8 to multiple sclerosis: A multicenter case-control study

Leppä, V., Surakka, I., Tienari, P. J., Elovaara, I., Compston, A., Sawcer, S., Robertson, N., de Jager, P. L., Aubin, C., Hafler, D. A., Oturai, A. B., Søndergaard, H. B., Sellebjerg, F., Sørensen, P. S., Hemmer, B., Cepok, S., Winkelmann, J., Wichmann, H. E., Comabella, M. & Bustamante, M. F. & 24 others, Montalban, X., Olsson, T., Kockum, I., Hillert, J., Alfredsson, L., Goris, A., Dubois, B., Mero, I. L., Smestad, C., Celius, E. G., Harbo, H. F., D'Alfonso, S., Bergamaschi, L., Leone, M., Ristori, G., Kappos, L., Hauser, S. L., Cournu-Rebeix, I., Fontaine, B., Boonen, S., Polman, C., Palotie, A., Peltonen, L. & Saarela, J., 2011, In: PLoS ONE. 6, 4, e18813.

Research output: Contribution to journal › Article › peer-review

Open Access

63 Scopus citations

When Parkinson's disease patients go to sleep: Specific sleep disturbances related to Parkinson's disease

Schulte, E. C. & Winkelmann, J., May 2011, In: Journal of Neurology. 258, SUPPL. 2, p. S328-S335

Research output: Contribution to journal › Article › peer-review

39 Scopus citations

2010

Common variants at 10 genomic loci influence hemoglobin A_1C levels via glycemic and nonglycemic pathways

Soranzo, N., Sanna, S., Wheeler, E., Gieger, C., Radke, D., Dupuis, J., Bouatia-Naji, N., Langenberg, C., Prokopenko, I., Stolerman, E., Sandhu, M. S., Heeney, M. M., Devaney, J. M., Reilly, M. P., Ricketts, S. L., Stewart, A. F. R., Voight, B. F., Willenborg, C., Wright, B. & Altshuler, D. & 157 others, Arking, D., Balkau, B., Barnes, D., Boerwinkle, E., Böhm, B., Bonnefond, A., Bonnycastle, L. L., Boomsma, D. I., Bornstein, S. R., Böttcher, Y., Bumpstead, S., Burnett-Miller, M. S., Campbell, H., Cao, A., Chambers, J., Clark, R., Collins, F. S., Coresh, J., De Geus, E. J. C., Dei, M., Deloukas, P., Döring, A., Egan, J. M., Elosua, R., Ferrucci, L., Forouhi, N., Fox, C. S., Franklin, C., Franzosi, M. G., Gallina, S., Goel, A., Graessler, J., Grallert, H., Greinacher, A., Hadley, D., Hall, A., Hamsten, A., Hayward, C., Heath, S., Herder, C., Homuth, G., Hottenga, J. J., Hunter-Merrill, R., Illig, T., Jackson, A. U., Jula, A., Kleber, M., Knouff, C. W., Kong, A., Kooner, J., Köttgen, A., Kovacs, P., Krohn, K., Kühnel, B., Kuusisto, J., Laakso, M., Lathrop, M., Lecoeur, C., Li, M., Li, M., Loos, R. J. F., Luan, J., Lyssenko, V., Mägi, R., Magnusson, P. K. E., Mälarstig, A., Mangino, M., Martínez-Larrad, M. T., März, W., McArdle, W. L., McPherson, R., Meisinger, C., Meitinger, T., Melander, O., Mohlke, K. L., Mooser, V. E., Morken, M. A., Narisu, N., Nathan, D. M., Nauck, M., O'Donnell, C., Oexle, K., Olla, N., Pankow, J. S., Payne, F., Peden, J. F., Pedersen, N. L., Peltonen, L., Perola, M., Polasek, O., Porcu, E., Rader, D. J., Rathmann, W., Ripatti, S., Rocheleau, G., Roden, M., Rudan, I., Salomaa, V., Saxena, R., Schlessinger, D., Schunkert, H., Schwarz, P., Seedorf, U., Selvin, E., Serrano-Ríos, M., Shrader, P., Silveira, A., Siscovick, D., Song, K., Spector, T. D., Stefansson, K., Steinthorsdottir, V., Strachan, D. P., Strawbridge, R., Stumvoll, M., Surakka, I., Swift, A. J., Tanaka, T., Teumer, A., Thorleifsson, G., Thorsteinsdottir, U., Tönjes, A., Usala, G., Vitart, V., Völzke, H., Wallaschofski, H., Waterworth, D. M., Watkins, H., Wichmann, H. E., Wild, S. H., Willemsen, G., Williams, G. H., Wilson, J. F., Winkelmann, J., Wright, A. F., Zabena, C., Zhao, J. H., Epstein, S. E., Erdmann, J., Hakonarson, H. H., Kathiresan, S., Khaw, K. T., Roberts, R., Samani, N. J., Fleming, M. D., Sladek, R., Abecasis, G., Boehnke, M., Froguel, P., Groop, L., McCarthy, M. I., Kao, W. H. L., Florez, J. C., Uda, M., Wareham, N. J., Barroso, I. & Meigs, J. B., Dec 2010, In: Diabetes. 59, 12, p. 3229-3239 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

349 Scopus citations

IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci

Esposito, F., Patsopoulos, N. A., Cepok, S., Kockum, I., Leppä, V., Booth, D. R., Heard, R. N., Stewart, G. J., Cox, M., Scott, R. J., Lechner-Scott, J., Goris, A., Dobosi, R., Dubois, B., Rioux, J. D., Oturai, A. B., Søndergaard, H. B., Sellebjerg, F., Sørensen, P. S. & Reunanen, M. & 49 others, Koivisto, K., Cournu-Rebeix, I., Fontaine, B., Winkelmann, J., Gieger, C., Infante-Duarte, C., Zipp, F., Bergamaschi, L., Leone, M., Bergamaschi, R., Cavalla, P., Lorentzen, A. R., Mero, I. L., Celius, E. G., Harbo, H. F., Spurkland, A., Comabella, M., Bryneda, B., Alfredsson, L., Bernardinelli, L., Robertson, N. P., Hawkins, C. P., Barcellos, L. F., Beecham, G., Bush, W., Cree, B. A. C., Daly, M. J., Ivinson, A. J., Aubin, C., Compston, A., D'Alfonso, S., Haines, J. L., Hauser, S. L., Hemmer, B., Hillert, J., McCauley, J. L., Oksenberg, J., Olsson, T., Palotie, A., Peltonen, L., Pericak-Vance, M. A., Saarela, J., Sawcer, S. J., Stranger, B., Boneschi, F. M., Comi, G., Hafler, D. A., De Bakker, P. I. W. & De Jager, P. L., Jul 2010, In: Genes and Immunity. 11, 5, p. 397-405 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

64 Scopus citations

Short-term attention and verbal fluency is decreased in restless legs syndrome patients

Fulda, S., Beitinger, M. E., Reppermund, S., Winkelmann, J. & Wetter, T. C., Nov 2010, In: Movement Disorders. 25, 15, p. 2641-2648 8 p.

Research output: Contribution to journal › Article › peer-review

61 Scopus citations

2009

Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus (Nature Genetics (2009) 41 (708-711))

Hallmayer, J., Faraco, J., Lin, L., Hesselson, S., Winkelmann, J., Kawashima, M., Mayer, G., Plazzi, G., Nevsimalova, S., Bourgin, P., Hong, S. S. C., Honda, Y., Honda, M., Högl, B., Longstreth, W. T., Montplaisir, J., Kemlink, D., Einen, M., Chen, J. & Musone, S. L. & 28 others, Akana, M., Miyagawa, T., Duan, J., Desautels, A., Erhardt, C., Hesla, P. E., Poli, F., Frauscher, B., Jeong, J. H., Lee, S. P., Ton, T. G. N., Kvale, M., Kolesar, L., Dobrovolná, M., Nepom, G. T., Salomon, D., Wichmann, H. E., Rouleau, G. A., Gieger, C., Levinson, D. F., Gejman, P. V., Meitinger, T., Young, T., Peppard, P., Tokunaga, K., Kwok, P. Y., Risch, N. & Mignot, E., Jul 2009, In: Nature Genetics. 41, 7, p. 859 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

Narcolepsy is strongly associated with the T-cell receptor alpha locus

Hallmayer, J., Faraco, J., Lin, L., Hesselson, S., Winkelmann, J., Kawashima, M., Mayer, G., Plazzi, G., Nevsimalova, S., Bourgin, P., Hong, S. S. C., Honda, Y., Honda, M., Högl, B., Longstreth, W. T., Montplaisir, J., Kemlink, D., Einen, M., Chen, J. & Musone, S. L. & 28 others, Akana, M., Miyagawa, T., Duan, J., Desautels, A., Erhardt, C., Hesla, P. E., Poli, F., Frauscher, B., Jeong, J. H., Lee, S. P., Ton, T. G. N., Kvale, M., Kolesar, L., Dobrovolná, M., Nepom, G. T., Salomon, D., Wichmann, H. E., Rouleau, G. A., Gieger, C., Levinson, D. F., Gejman, P. V., Meitinger, T., Young, T., Peppard, P., Tokunaga, K., Kwok, P. Y., Risch, N. & Mignot, E., Jun 2009, In: Nature Genetics. 41, 6, p. 708-711 4 p.

Research output: Contribution to journal › Article › peer-review

Open Access

405 Scopus citations

Recent advances in the diagnosis, genetics and treatment of restless legs syndrome

Trenkwalder, C., Högl, B. & Winkelmann, J., Apr 2009, In: Journal of Neurology. 256, 4, p. 539-553 15 p.

Research output: Contribution to journal › Review article › peer-review

88 Scopus citations

Replication of restless legs syndrome loci in three european populations

Kemlink, D., Polo, O., Frauscher, B., Gschliesser, V., Högl, B., Poewe, W., Vodicka, P., Vavrova, J., Sonka, K., Nevsimalova, S., Schormair, B., Lichtner, P., Silander, K., Peltonen, L., Gieger, C., Wichmann, H. E., Zimprich, A., Roeske, D., BMUller-Myhsok & Meitinger, T. & 1 others, Winkelmann, J., May 2009, In: Journal of Medical Genetics. 46, 5, p. 315-318 4 p.

Research output: Contribution to journal › Article › peer-review

Open Access

71 Scopus citations

2008

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

Schormair, B., Kemlink, D., Roeske, D., Eckstein, G., Xiong, L., Lichtner, P., Ripke, S., Trenkwalder, C., Zimprich, A., Stiasny-Kolster, K., Oertel, W., Bachmann, C. G., Paulus, W., Högl, B., Frauscher, B., Gschliesser, V., Poewe, W., Peglau, I., Vodicka, P. & Vávrová, J. & 12 others, Sonka, K., Nevsimalova, S., Montplaisir, J., Turecki, G., Rouleau, G., Gieger, C., Illig, T., Wichmann, H. E., Holsboer, F., Müller-Myhsok, B., Meitinger, T. & Winkelmann, J., Aug 2008, In: Nature Genetics. 40, 8, p. 946-948 3 p.

Research output: Contribution to journal › Article › peer-review

238 Scopus citations

Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13

Kemlink, D., Plazzi, G., Vetrugno, R., Provini, F., Polo, O., Stiasny-Kolster, K., Oertel, W., Nevsimalova, S., Sonka, K., Högl, B., Frauscher, B., Hadjigeorgiou, G. M., Pramstaller, P. P., Lichtner, P., Meitinger, T., Müller-Myshok, B., Winkelmann, J. & Montagna, P., May 2008, In: Neurogenetics. 9, 2, p. 75-82 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

59 Scopus citations

Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome

Winkelmann, J., Lichtner, P., Schormair, B., Uhr, M., Hauk, S., Stiasny-Kolster, K., Trenkwalder, C., Paulus, W., Peglau, I., Eisensehr, I., Illig, T., Wichmann, H. E., Pfister, H., Golic, J., Bettecken, T., Pütz, B., Holsboer, F., Meitinger, T. & Müller-Myhsok, B., 15 Feb 2008, In: Movement Disorders. 23, 3, p. 350-358 9 p.

Research output: Contribution to journal › Article › peer-review

104 Scopus citations

2007

Animal studies in restless legs syndrome

Baier, P. C., Ondo, W. G. & Winkelmann, J., 2007, In: Movement Disorders. 22, SUPPL. 18, p. S459-S465

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Erratum: Genetics of sleep and sleep disorders (Cellular and Molecular Life Sciences (May 2007) 64, 10, (1216-1226) DOI: 10.1007/s00018-007-6532-1)

Kimura, M. & Winkelmann, J., Jun 2007, In: Cellular and Molecular Life Sciences. 64, 12, p. 1583 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

Winkelmann, J., Polo, O., Provini, F., Nevsimalova, S., Kemlink, D., Sonka, K., Högl, B., Poewe, W., Stiasny-Kolster, K., Oertel, W., De Weerd, A., Strambi, L. F., Zucconi, M., Pramstaller, P. P., Arnulf, I., Trenkwalder, C., Klein, C., Hadjigeorgiou, G. M., Happe, S. & Rye, D. & 1 others, Montagna, P., 2007, In: Movement Disorders. 22, SUPPL. 18, p. S449-S458

Research output: Contribution to journal › Article › peer-review

72 Scopus citations

Genetics of sleep and sleep disorders

Kimura, M. & Winkelmann, J., May 2007, In: Cellular and Molecular Life Sciences. 64, 10, p. 1216-1226 11 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

29 Scopus citations

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

Winkelmann, J., Schormair, B., Lichtner, P., Ripke, S., Xiong, L., Jalilzadeh, S., Fulda, S., Pütz, B., Eckstein, G., Hauk, S., Trenkwalder, C., Zimprich, A., Stiasny-Kolster, K., Oertel, W., Bachmann, C. G., Paulus, W., Peglau, I., Eisensehr, I., Montplaisir, J. & Turecki, G. & 7 others, Rouleau, G., Gieger, C., Illig, T., Wichmann, H. E., Holsboer, F., Müller-Myhsok, B. & Meitinger, T., Aug 2007, In: Nature Genetics. 39, 8, p. 1000-1006 7 p.

Research output: Contribution to journal › Article › peer-review

577 Scopus citations

2006

Begutachtung des restless legs syndroms - Zusammenfassung der konsensusempfehlung

Translated title of the contribution: Surveys on restless legs syndrome: Summary of consensus recommendationsHappe, S., Beneš, H., Hornyak, M., Kotterba, S., Mayer, G., Stiasny-Kolster, K., Clarenbach, P., Eisensehr, I., Fulda, S., Haan, J., Högl, B., Lüdemann, P., Meier, A., Nass, A., Salaschek, M., Trenkwalder, C., Walther, B., Wetter, T. C., Winkelmann, J. & Young, P., Nov 2006, In: Somnologie. 10, 4, p. 206-209 4 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

2003

The Influence of Poor Sleep on Quality of Life in Patients with Parkinson's Disease - A Prospective Study

Happe, S., Berger, K., Blersch, W., Eichhorn, T., Gasser, T., Holinka, B., Knecht, S., Kupsch, A., Müller, T., Riess, V., Vieregge, P. & Winkelmann, J., Nov 2003, In: Somnologie. 7, 4, p. 134-139 6 p.

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Chair of Neurogenetics (2015 — 2023)

Research output

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