Juliane Winkelmann

View Scopus Profile

Juliane Winkelmann

Dr.med.

1997 …2025

Research activity per year

Search results

  • 2013

    Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation

    Schulte, E. C., Claussen, M. C., Jochim, A., Haack, T., Hartig, M., Hempel, M., Prokisch, H., Haun-Jünger, U., Winkelmann, J., Hemmer, B., Förschler, A. & Ilg, R., Feb 2013, In: Movement Disorders. 28, 2, p. 224-227 4 p.

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

    40 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
    49 Scopus citations

  • Prolonged release oxycodone-naloxone for treatment of severe restless legs syndrome after failure of previous treatment: A double-blind, randomised, placebo-controlled trial with an open-label extension

    Trenkwalder, C., Beneš, H., Grote, L., García-Borreguero, D., Högl, B., Hopp, M., Bosse, B., Oksche, A., Reimer, K., Winkelmann, J., Allen, R. P. & Kohnen, R., Dec 2013, In: The Lancet Neurology. 12, 12, p. 1141-1150 10 p.

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

    177 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
    16 Scopus citations

  • Restless legs syndrome: Update on pathogenesis

    Dauvilliers, Y. & Winkelmann, J., Nov 2013, In: Current Opinion in Pulmonary Medicine. 19, 6, p. 594-600 7 p.

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

    85 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
    66 Scopus citations

  • The role of SCARB2 as susceptibility factor in Parkinson's disease

    Hopfner, F., Schulte, E. C., Mollenhauer, B., Bereznai, B., Knauf, F., Lichtner, P., Zimprich, A., Haubenberger, D., Pirker, W., Brücke, T., Peters, A., Gieger, C., Kuhlenbäumer, G., Trenkwalder, C. & Winkelmann, J., Apr 2013, In: Movement Disorders. 28, 4, p. 538-540 3 p.

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

    42 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

  • β-defensin genomic copy number does not influence the age of onset in huntington’s disease

    REGISTRY investigators of the European Huntington’s Disease Network, 1 Jan 2013, In: Journal of Huntington's Disease. 2, 1, p. 107-124 18 p.

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

    Open Access
    1 Scopus citations
  • 2012

    Crowned-Dens-Syndrom: Eine seltene Differenzialdiagnose akut aufgetretener Nackenschmerzen

    Translated title of the contribution: Crowned dens syndrome: A rare differential diagnosis of acute neck painKnier, B., Boeckh-Behrens, T., Murgan, I., Wörtler, K., Hemmer, B. & Winkelmann, J., Oct 2012, In: Nervenarzt. 83, 10, p. 1308-1311 4 p.

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

  • 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
    3752 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
    811 Scopus citations

  • Mutational screening of THAP1 in a German population with primary dystonia

    Kaffe, M., Gross, N., Castrop, F., Dresel, C., Gieger, C., Lichtner, P., Haslinger, B. & Winkelmann, J., Jan 2012, In: Parkinsonism and Related Disorders. 18, 1, p. 104-106 3 p.

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

    3 Scopus citations

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

    Winkelmann, J., Lin, L., Schormair, B., Kornum, B. R., Faraco, J., Plazzi, G., Melberg, A., Cornelio, F., Urban, A. E., Pizza, F., Poli, F., Grubert, F., Wieland, T., Graf, E., Hallmayer, J., Strom, T. M. & Mignot, E., May 2012, In: Human Molecular Genetics. 21, 10, p. 2205-2210 6 p., dds035.

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

    Open Access
    208 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
    225 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
    709 Scopus citations

  • Common variants at 10 genomic loci influence hemoglobin A1C 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
    190 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
    2231 Scopus citations

  • Genetics of restless legs syndrome: Mendelian, complex, and everything in between

    Schormair, B. & Winkelmann, J., Jun 2011, In: Sleep Medicine Clinics. 6, 2, p. 203-215 13 p.

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

    12 Scopus citations

  • Genetics of sleep disorders

    Winkelmann, J. & Kimura, M., 2011, In: Handbook of Clinical Neurology. 99, C, p. 681-693 13 p.

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

    8 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
    155 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
    61 Scopus citations

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

    Hopfner, F., Schormair, B., Knauf, F., Berthele, A., Tölle, T. R., Baron, R., Maier, C., Treede, R. D., Binder, A., Sommer, C., Maihöfner, C., Kunz, W., Zimprich, F., Heemann, U., Pfeufer, A., Näbauer, M., Kääb, S., Nowak, B., Gieger, C. & Lichtner, P. & 3 others, Trenkwalder, C., Oexle, K. & Winkelmann, J., 27 Oct 2011, In: BMC Neurology. 11, 134.

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

    Open Access
    24 Scopus citations

  • Parkinson's disease risk score: Moving to a premotor diagnosis

    Winkler, J., Ehret, R., Büttner, T., Dillmann, U., Fogel, W., Sabolek, M., Winkelmann, J. & Kassubek, J., May 2011, In: Journal of Neurology. 258, SUPPL. 2, p. S311-S315

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

    38 Scopus citations

  • Restless-legs-Syndrom und kardiovaskuläres Risiko

    Translated title of the contribution: Restless legs syndrome and cardiovascular riskSchulte, E. C., Spieler, D. & Winkelmann, J., Aug 2011, In: Nervenarzt. 82, 8, p. 1006-1011 6 p.

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

    3 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

  • Therapie des sekundären restless-legs-syndroms: Häufig ist eisenmangel die ursache

    Translated title of the contribution: Treatment of secondary restless legs syndromeGroß, N. & Winkelmann, J., 26 May 2011, In: MMW-Fortschritte der Medizin. 153, 21, p. 45-48 4 p.

    Research output: Contribution to journal › Short survey › peer-review

    1 Scopus citations

  • Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome

    Schulte, E. C., Knauf, F., Kemlink, D., Schormair, B., Lichtner, P., Gieger, C., Meitinger, T. & Winkelmann, J., 22 Mar 2011, In: Neurology. 76, 12, p. 1106-1108 3 p.

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

    13 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 A1C 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

  • Gentik des Restless-legs-syndroms

    Translated title of the contribution: Genetics of the restless legs syndromeWinkelmann, J., 2009, In: Aktuelle Neurologie. 36, 10, p. 524-527 4 p.

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

  • 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
    408 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

    Genetics of restless legs syndrome: A burning urge to move

    Winkelmann, J. & Müller-Myhsok, B., Feb 2008, In: Neurology. 70, 9, p. 664-665 2 p.

    Research output: Contribution to journal › Editorial

    13 Scopus citations

  • Genetics of restless legs syndrome

    Winkelmann, J., May 2008, In: Current Neurology and Neuroscience Reports. 8, 3, p. 211-216 6 p.

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

    56 Scopus citations

  • Heritability of Sleep Electroencephalogram

    Ambrosius, U., Lietzenmaier, S., Wehrle, R., Wichniak, A., Kalus, S., Winkelmann, J., Bettecken, T., Holsboer, F., Yassouridis, A. & Friess, E., 15 Aug 2008, In: Biological Psychiatry. 64, 4, p. 344-348 5 p.

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

    135 Scopus citations

  • 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