Munich Cluster for Systems Neurology
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Curriculum vitae Prof. Dr. Juliane Winkelmann

Training and positions

    • 1988-1990 Medical studies, Semmelweis University, Budapest, Hungary
    • 1990-1995 Medical studies, Ludwig-Maximilians University, Munich, Germany
    • 1996 – 2001 Intern, Resident and Research Scientist, Max-Planck Institute of Psychiatry: Dept. of Neurology, Dept. of Psychiatry, Dept. Psychopharmacology of Sleep, Munich, Germany
    • 2002 Resident, Dept. of Neurology, Ludwig-Maximilians University, Munich, Germany
    • since 2003 Institute of Human Genetics, Helmholtz Zentrum München
    • 2004 –2008 Head of “Neurological Genetics” Group, Max-Planck Institute of Psychiatry, Munich, Germany
    • 2006 – 2008 Assistant Medical Director (Oberärztin), Neurology, Max-Planck Institute of Psychiatry, Munich, Germany
    • 2008 - 2012 Assistant Medical Director (Oberärztin), Department of Neurology and Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich and Head of Research Group “Neurogenetics”, Helmholtz Zentrum Munich, Germany
    • since 6/2015 Director, Institute of Neurogenomics, Helmholtz Zentrum Munich, Germany
      Board certified Neurologist (2003) and Human Geneticist (2017)
    • since 10/2017 Senior Vice President International Alliances and Alumni, Technical University of Munich, Germany

Academic positions & appointments

    • 2005 - 2008 Assistant Professor of Neurology and Neurogenetics (Privatdozent), Ludwig-Maximilians University München, Germany
    • 2009 Assistant Professor of Neurology and Neurogenetics (Privatdozent), Technical University of Munich, Germany
    • 2010 - 2012 Adjunct Professor of Neurology and Neurogenetics (Apl. Professor), Technical University of Munich, Germany
    • 2013 - 5/2015 Full Professor of Neurology and Neurogenetics, Tenure, Stanford University, CA. USA (tenure)
    • since 6/2015 Full Professor of Neurogenetics, Technical University of Munich, Germany (tenure)

Awards & honors

    • 2020 Elected Member of the Leopoldina
    • 2016 Sleep Science Award, Americain Academy of Neurology (AAN)
    • 2014 Dingebauer Award, German Neurological Society(DGN)
    • 2013 Collaborative Research Award, International RLS Study Group
    • 2009 Outstanding Scientific Achievement Award, American Sleep Research Society (SRS)
    • 2001 Nachwuchsförderpreis, Young Scientist Award, German Sleep Society (DGSM)
    • 2001 Habilitationsförderpreis, Bavarian Ministry for Culture, Science, Art

Academic responsibilities (selected)

Member of PhD-Program “Medical Life Science and Technology” (2010-2012, 2015-ongoing), Organizer of several International conferences in the US and Germany (Annual meeting of the European RLS Study Group, Meeting of the International RLS Study Group). Member of appointment commitees at TUM. Member of review panels of e.g., the German, Swiss, Israeli and Irish Research Foundations. Since 2017 Member of Presidents Think Tank (Otmar Wiestler) Helmholtz Society, Germany.

10 key papers

    • Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Brain 2022;18;145(2):644-654.
    • Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H. Ann Neurol 2022;91(2):225-237
    • Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Ann Neurol 2020;88(5):867-877.
    • Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Alonso Ramos-Rivera G, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Millan Zamora F, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 2020;9:908-918.
    • Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Allen RP, Earley CJ, Ondo WG, Xiong L, Montplaisir J, Gan-Or Z, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AFR, Shah SH, Gieger C, Peters A, Rouleau GA, Berger K, Oexle K, Di Angelantonio E, Hinds DA, Müller-Myhsok B, Winkelmann J; 23andMe Research Team; DESIR study group. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. Lancet Neurol. 2017;16(11):898-907
    • Zech M, Boesch S, Maier EM, IBorggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM and Winkelmann J. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. Am J Hum Genet 2016;99(6):1377-1387.
    • Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early- onset isolated dystonia. Am J Hum Genet 2015;96(6):883-93.
    • Spieler D, Kaffe M, Knauf F, Bessa J, Tena JJ, Giesert F, Schormair B, Tilch E, Lee H, Horsch M, Czamara D, Karbalai N, von Toerne C, Waldenberger M, Gieger C, Lichtner P, Claussnitzer M, Naumann R, Müller-Myhsok B, Torres M, Garrett L, Rozman J, Klingenspor M, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Beckers J, Hölter SM, Meitinger T, Hauck SM, Laumen H, Wurst W, Casares F, Gómez-Skarmeta JL, Winkelmann J. Restless legs syndrome-associated intronic common variant in Meis1 alters en hancer function in the developing telencephalon. Genome Research 2014;24(4):592-603.
    • Schormair B*, Kemlink D*, Roeske D, Eckstein G, Xiong L, Lichtner P, Trenkwalder C, Zimprich A, Högl, Poewe W, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Vodicka P, Vávrová J, Sonka K, Montplaisir J, Turecki G, Rouleau G, Gieger C, Thomas Illig, H-Erich Wichmann H-E, Holsboer F, Müller-Myhsok B, Thomas Meitinger T, Winkelmann J. Protein-tyrosine Phosphatase Receptor Type Delta (PTPRD) is Associated with Restless Legs Syndrome. Nature Genetics 2008;40:946-948.
    • Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Putz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Muller-Myhsok B, Meitinger T. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nature Genetics 2007;39(8):1000-1006.

Responsible for content: Prof. Dr. Juliane Winkelmann