Winkelmann, Juliane

Harrer P, Kittke V, Saparov A, Knaus A, Zeidler S, Schot R, Kraft F, Begemann M, Koudijs S, Sorrentino U, Zhao C, Dzinovic I, Pavlov M, Graf E, Stehr AM, Krawitz PM, Wilhelm C, Biskup S, Alsalloum F, Berweck S, Winkelmann J, Oexle K, Kurth I, Korenke GC, Zech M. Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4. Mov Disord. 2026 Apr 9. doi: 10.1002/mds.70297. Epub ahead of print. PMID: 41958152.
Lai L, Jong ASY, Delerue T, Lin J, Thorand B, Heier M, Prokisch H, Farzeen A, Winkelmann J, Thiering E, Gieger C, Peters A, Waldenberger M. Association of DNA methylation with hypertension and blood pressure: a 7-year longitudinal study from KORA F4/FF4. BMC Med. 2026 Feb 4. doi: 10.1186/s12916-026-04672-8. Epub ahead of print. PMID: 41634745.
Saparov A, Dzinovic I, Brunet T, Yépez VA, Hölzlwimmer F, Indelicato E, Assmann B, Badmann S, Ballhausen D, Berweck S, Brechtmann F, Brugger M, Derderian K, Distelmaier F, Harrer P, Harvanova D, Havrankova P, Jaroszynski AK, Kolnikova M, Kopajtich R, Koy A, Krygier M, Kunc L, Kusikova K, Maier O, Mazurkiewicz-Bełdzińska M, Mertes C, Oberlack A, Roser T, Sitzberger A, Sorrentino U, Stehr AM, Vill K, Wagner M, Prokisch H, Boesch S, Necpal J, Jech R, Winkelmann J, Graf E, Gagneur J, Skorvanek M, Zech M. Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort. Ann Neurol. 2026 Feb 2. doi: 10.1002/ana.78171. Epub ahead of print. PMID: 41623120.
Tse KYK, Yuan H, Zisou C, Holliday J, Espie CA, Dijk DJ, Burns A, Doherty A, Lane J, Ollila HM, Pack A, Ray D, Redline S, Richmond R, Saxena R, Schernhammer ES, Schormair B, Spiegelhalder K, Wang H, Winkelmann J, Wood AR, Rutter MK, Mignot E, Kyle SD. Sleep and circadian health in the UK Biobank: Report on the 2023 sleep questionnaire enhancement. Sleep. 2026 Mar 9:zsag068. doi: 10.1093/sleep/zsag068. Epub ahead of print. PMID: 41796014.

Brunet T, Zech M, Schatz UA, Adamovičová M, Wagner M, Graf E, Berutti R, Weigand H, Jech R, Meitinger T, Winkelmann J, Brugger M. De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders. Am J Med Genet A. 2025 Oct 3:e64255. doi: 10.1002/ajmg.a.64255. Epub ahead of print. PMID: 41044885.
Lai L, Juntilla DL, Del M, Del C Gomez-Alonso M, Grallert H, Thorand B, Farzeen A, Rathmann W, Winkelmann J, Prokisch H, Gieger C, Herder C, Peters A, Waldenberger M. Longitudinal association between DNA methylation and type 2 diabetes: findings from the KORA F4/FF4 study. Cardiovasc Diabetol. 2025 Jan 18;24(1):19. doi: 10.1186/s12933-024-02558-8. PMID: 39827095; PMCID: PMC11748594.
Sorrentino U, Pavlov M, Mirza-Schreiber N, Brugger M, Brunet T, Tsoma E, Saparov A, Dzinovic I, Harrer P, Stehr AM, Wagner M, Tilch E, Wallacher B, Alhasan S, Koy A, Di Fonzo A, Kolnikova M, Kusikova K, Havrankova P, Tautanova R, Lösecke S, Eck S, Boesch S, Necpal J, Skorvanek M, Jech R, Prokisch H, Winkelmann J, Oexle K, Graf E, Zech M. Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia. Mov Disord. 2025 Sep 30. doi: 10.1002/mds.70072. Epub ahead of print. PMID: 41028987.
Stehr AM, Fischer J, Mirza-Schreiber N, Bernardi K, Porrmann J, Harrer P, Kaiser F, Jamra RA, Winkelmann J, Jech R, Koy A, Oexle K, Zech M. Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders. Parkinsonism Relat Disord. 2025 Feb 5;133:107319. doi: 10.1016/j.parkreldis.2025.107319. Epub ahead of print. PMID: 39933316.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, Kittke V, Tilch E, Zhao C, Tsoma E, Sorrentino U, Indelicato E, Stehr A, Saparov A, Abela L, Adamovicova M, Afenjar A, Assmann B, Baloghova J, Baumann M, Berutti R, Brezna Z, Brugger M, Brunet T, Cogne B, Colangelo I, Conboy E, Distelmaier F, Eckenweiler M, Garavaglia B, Geerlof A, Graf E, Hackenberg A, Harvanova D, Haslinger B, Havrankova P, Hoffmann GF, Janzarik WG, Keren B, Kolnikova M, Kolokotronis K, Kosutzka Z, Koy A, Krenn M, Krygier M, Kusikova K, Maier O, Meitinger T, Mertes C, Milenkovic I, Monfrini E, Mourao ASD, Musacchio T, Nizon M, Ostrozovicova M, Pavlov M, Prihodova I, Rektorova I, Romito LM, Rybanska B, Sadr-Nabavi A, Schwenger S, Shoeibi A, Sitzberger A, Smirnov D, Svantnerova J, Tautanova R, Toelle SP, Ulmanova O, Vetrini F, Vill K, Wagner M, Weise D, Zorzi G, Di Fonzo A, Oexle K, Berweck S, Mall V, Boesch S, Schormair B, Prokisch H, Jech R, Winkelmann J. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. Brain. 2025 Feb 12:awaf059. doi: 10.1093/brain/awaf059. Epub ahead of print. PMID: 39937650.

Badmann S, Castrop F, Brugger M, Winkelmann J, Zech M. Adult-Onset Parkinsonism as Late Manifestation of HIVEP2-Associated Developmental Disorder. Mov Disord Clin Pract. 2024 Jun 28. doi: 10.1002/mdc3.14156. Epub ahead of print. PMID: 38943269.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077. Epub ahead of print. PMID: 39301775.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. Am J Hum Genet. 2024 Feb 21:S0002-9297(24)00037-5. doi: 10.1016/j.ajhg.2024.02.005. Epub ahead of print. PMID: 38423010.
Dvoretskova E, Ho MC, Kittke V, Neuhaus F, Vitali I, Lam DD, Delgado I, Feng C, Torres M, Winkelmann J, Mayer C. Spatial enhancer activation influences inhibitory neuron identity during mouse embryonic development. Nat Neurosci. 2024 Mar 25. doi: 10.1038/s41593-024-01611-9.Epub ahead of print. PMID: 38528203.
Harrer P, Inderhees J, Zhao C, Schormair B, Tilch E, Gieger C, Peters A, Jöhren O, Fleming T, Nawroth PP, Berger K, Hermesdorf M, Winkelmann J, Schwaninger M, Oexle K. Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity. EBioMedicine. 2024 Feb 13;101:105007. doi: 10.1016/j.ebiom.2024.105007. Epub ahead of print. PMID: 38354534; PMCID: PMC10875252.
Indelicato E, Romito LM, Harrer P, Golfrè Andreasi N, Colangelo I, Kopajtich R, Winkelmann J, Prokisch H, Garavaglia B, Zech M. Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders. Mov Disord. 2024 Mar 22. doi: 10.1002/mds.29797. Epub ahead of print. PMID: 38516945.
Indelicato E, Schlieben LD, Stenton SL, Boesch S, Skorvanek M, Necpal J, Jech R, Winkelmann J, Prokisch H, Zech M. Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients. J Neurol. 2024 May 22. doi: 10.1007/s00415-024-12447-5. Epub ahead of print. PMID: 38775934.
Jacob M, Brugger M, Andres S, Wagner M, Graf E, Berutti R, Tilch E, Pavlov M, Mayerhanser K, Hoefele J, Meitinger T, Winkelmann J, Brunet T. Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago. Neuropediatrics. 2024 Mar 28. doi: 10.1055/s-0044-1782680. Epub ahead of print. PMID: 38547905.
Kittke V, Zhao C, Lam DD, Harrer P, Krezel W, Schormair B, Oexle K, Winkelmann J. RLS-associated MEIS transcription factors control distinct processes in human neural stem cells. Sci Rep. 2024 Nov 22;14(1):28986. doi: 10.1038/s41598-024-80266-9. PMID: 39578497; PMCID: PMC11584712.
Laabs BH, Lohmann K, Vollstedt EJ, Reinberger T, Nuxoll LM, Kilic-Berkmen G, Perlmutter JS, Loens S, Cruchaga C, Franke A, Dobricic V, Hinrichs F, Grözinger A, Altenmüller E, Bellows S, Boesch S, Bressman SB, Duque KR, Espay AJ, Ferbert A, Feuerstein JS, Frank S, Gasser T, Haslinger B, Jech R, Kaiser F, Kamm C, Kollewe K, Kühn AA, LeDoux MS, Lohmann E, Mahajan A, Münchau A, Multhaupt-Buell T, Pantelyat A, Pirio Richardson SE, Raymond D, Reich SG, Saunders Pullman R, Schormair B, Sharma N, Sichani AH, Simonyan K, Volkmann J, Wagle Shukla A, Winkelmann J, Wright LJ, Zech M, Zeuner KE, Zittel S, Kasten M, Sun YV, Bäumer T, Brüggemann N, Ozelius LJ, Jinnah HA, Klein C, König IR. Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies. Mov Disord. 2024 Sep 17. doi: 10.1002/mds.29968. Epub ahead of print. PMID: 39287592.
Leu CL, Lam DD, Salminen AV, Wefers B, Becker L, Garrett L, Rozman J, Wurst W, de Angelis MH, Hölter SM, Winkelmann J, Williams RH. A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice. Sleep. 2024 Feb 5:zsae015. doi: 10.1093/sleep/zsae015. Epub ahead of print. PMID: 38314840.
Mohanta SK, Santovito D, Weber C. Cortico-limbic restructuring and atherosclerosis: a stressful liaison. Eur Heart J. 2024 May 21;45(19):1765-1767. doi: 10.1093/eurheartj/ehae212. PMID: 38770964.
Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P; 23andMe Research Team; D.E.S.I.R. study group; Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J. Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction. Nat Genet. 2024 Jun 5. doi: 10.1038/s41588-024-01763-1. Epub ahead of print. PMID: 38839884.
Sorrentino U, Boesch S, Doummar D, Ravelli C, Serranova T, Indelicato E, Winkelmann J, Burglen L, Jech R, Zech M. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. J Neurol. 2024 Mar 5. doi: 10.1007/s00415-024-12271-x. Epub ahead of print. PMID: 38441608.
Sorrentino U, Romito LM, Garavaglia B, Fichera M, Colangelo I, Prokisch H, Winkelmann J, Necpal J, Jech R, Zech M. Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor Other Hyperkinet Mov (N Y). 2024 Apr 10;14:16. doi: 10.5334/tohm.858. PMID: 38617829; PMCID: PMC11012930.
Stehr AM, Koeglsperger T, Jacob M, Rhodio V, Winkelmann J, Hopfner F, Zech M. Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome. Tremor Other Hyperkinet Mov (N Y). 2024 Sep 25;14:48. doi: 10.5334/tohm.926. PMID: 39346806; PMCID: PMC11428658.
Zech M, Winkelmann J. Next-generation sequencing and bioinformatics in rare movement disorders. Nat Rev Neurol. 2024 Jan 3. doi: 10.1038/s41582-023-00909-9. Epub ahead of print. PMID: 38172289.

Dzinovic I, Graf E, Brugger M, Berutti R, Příhodová I, Blaschek A, Winkelmann J, Jech R, Vill K, Zech M (2023). Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch. Mov Disord Clin Pract. 2023 Jun 20;10(7):1159-1161. doi: 10.1002/mdc3.13793. PMID: 37476319; PMCID: PMC10354604.
Harrer P, Mirza-Schreiber N, Mandel V, Roeber S, Stefani A, Naher S, Wagner M, Gieger C, Waldenberger M, Peters A, Högl B, Herms J, Schormair B, Zhao C, Winkelmann J, Oexle K (2023). Epigenetic Association Analyses and Risk Prediction of RLS. Mov Disord. 2023 May 22. doi: 10.1002/mds.29440. Epub ahead of print. PMID: 37212434.
Harrer P, Škorvánek M, Kittke V, Dzinovic I, Borngräber F, Thomsen M, Mandel V, Svorenova T, Ostrozovicova M, Kulcsarova K, Berutti R, Busch H, Ott F, Kopajtich R, Prokisch H, Kumar KR, Mencacci NE, Kurian MA, Di Fonzo A, Boesch S, Kühn AA, Blümlein U, Lohmann K, Haslinger B, Weise D, Jech R, Winkelmann J, Zech M (2023). Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. Mov Disord. 2023 Jul 23. doi: 10.1002/mds.29562. Epub ahead of print. PMID: 37485550.
Indelicato E, Boesch S, Mencacci NE, Ghezzi D, Prokisch H, Winkelmann J, Zech M (2023). Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine. Mov Disord. 2023 Nov 14. doi: 10.1002/mds.29657. Epub ahead of print. PMID: 37964479.
Indelicato E, Boesch S, Havrankova P, Příhodová I, Winkelmann J, Jech R, Zech M (2023). SOXopathies and dystonia: Consolidation of a recurrent association. Parkinsonism Relat Disord. 2023 Dec 16;119:105960. doi:10.1016/j.parkreldis.2023.105960. Epub ahead of print. PMID: 38141365.
Keshawarz A, Joehanes R, Ma J, Lee GY, Costeira R, Tsai PC, Masachs OM, Bell JT, Wilson R, Thorand B, Winkelmann J, Peters A, Linseisen J, Waldenberger M, Lehtimäki T, Mishra PP, Kähönen M, Raitakari O, Helminen M, Wang CA, Melton PE, Huang RC, Pennell CE, O'Sullivan TA, Ochoa-Rosales C, Voortman T, van Meurs JBJ, Young KL, Graff M, Wang Y, Kiel DP, Smith CE, Jacques PF, Levy D (2023). Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis. Epigenetics. 2023 Dec;18(1):2211361. doi: 10.1080/15592294.2023.2211361. PMID: 37233989.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Sarmiento IJK, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D (2023). Variants in ATP5F1B are associated with dominantly inherited dystonia. Brain. 2023 Mar 1:awad068. doi: 10.1093/brain/awad068. Epub ahead of print. PMID: 36860166.
Necpál J, Winkelmann J, Zech M, Jech R (2023). A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy. Parkinsonism Relat Disord. 2023 May 5;111:105437. doi: 10.1016/j.parkreldis.2023.105437. Epub ahead of print. PMID: 37163803.
Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N (2023). Episignature analysis of moderate effects and mosaics. Eur J Hum Genet. 2023 Jun 26. doi: 10.1038/s41431-023-01406-9. Epub ahead of print. PMID: 37365401.
Ollila HM, Sharon E, Lin L, Sinnott-Armstrong N, Ambati A, Yogeshwar SM, Hillary RP, Jolanki O, Faraco J, Einen M, Luo G, Zhang J, Han F, Yan H, Dong XS, Li J, Zhang J, Hong SC, Kim TW, Dauvilliers Y, Barateau L, Lammers GJ, Fronczek R, Mayer G, Santamaria J, Arnulf I, Knudsen-Heier S, Bredahl MKL, Thorsby PM, Plazzi G, Pizza F, Moresco M, Crowe C, Van den Eeden SK, Lecendreux M, Bourgin P, Kanbayashi T, Martínez-Orozco FJ, Peraita-Adrados R, Benetó A, Montplaisir J, Desautels A, Huang YS; FinnGen; Jennum P, Nevsimalova S, Kemlink D, Iranzo A, Overeem S, Wierzbicka A, Geisler P, Sonka K, Honda M, Högl B, Stefani A, Coelho FM, Mantovani V, Feketeova E, Wadelius M, Eriksson N, Smedje H, Hallberg P, Hesla PE, Rye D, Pelin Z, Ferini-Strambi L, Bassetti CL, Mathis J, Khatami R, Aran A, Nampoothiri S, Olsson T, Kockum I, Partinen M, Perola M, Kornum BR, Rueger S, Winkelmann J, Miyagawa T, Toyoda H, Khor SS, Shimada M, Tokunaga K, Rivas M, Pritchard JK, Risch N, Kutalik Z, O'Hara R, Hallmayer J, Ye CJ, Mignot EJ (2023). Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy. Nat Commun. 2023 May 15;14(1):2709. doi: 10.1038/s41467-023-36120-z. PMID: 37188663; PMCID: PMC10185546.
Pavelekova P, Necpal J, Jech R, Havrankova P, Svantnerova J, Jurkova V, Gdovinova Z, Lackova A, Han V, Winkelmann J, Zech M, Skorvanek M (2023). Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders. Parkinsonism Relat Disord. 2023 Mar 4:105352. doi: 10.1016/j.parkreldis.2023.105352. Epub ahead of print. PMID: 36997436.
Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M (2023). ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. Genet Med. 2023 Sep 4:100971. doi: 10.1016/j.gim.2023.100971. Epub ahead of print. PMID: 37675773.
Seyedtaghia MR, Soudyab M, Shariati M, Esfehani RJ, Vafadar S, Shalaei N, Nouri V, Zech M, Winkelmann J, Shoeibi A, Sadr-Nabavi A (2023). Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease. Heliyon. 2023 Apr 8;9(4):e15393. doi: 10.1016/j.heliyon.2023.e15393. PMID: 37095917; PMCID: PMC10122007.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN (2023). POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. Am J Hum Genet. 2023 Apr 14:S0002-9297(23)00098-8. doi: 10.1016/j.ajhg.2023.03.014. Epub ahead of print. PMID: 37075751.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C; MJFF Global Genetic Parkinson's Disease Study Group (2023). Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Mov Disord. 2023 Jan 24. doi: 10.1002/mds.29288. Epub ahead of print. PMID: 36692014.
Zanuttigh E, Derderian K, Güra MA, Geerlof A, Di Meo I, Cavestro C, Hempfling S, Ortiz-Collazos S, Mauthe M, Kmieć T, Cammarota E, Panzeri MC, Klopstock T, Sattler M, Winkelmann J, Messias AC, Iuso A (2023). Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro. Pharmaceutics. 2023 Jan 12;15(1):267. doi: 10.3390/pharmaceutics15010267. PMID: 36678896; PMCID: PMC9862353.

Dzinovic I, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Pavelekova P, Havránková P, Tsoma E, Indelicato E, Runkel E, Held V, Weise D, Janzarik W, Eckenweiler M, Berweck S, Mall V, Haslinger B, Jech R, Winkelmann J, Zech M (2022). Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes. Parkinsonism Relat Disord. 2022 Jul 18;102:1-6. doi: 10.1016/j.parkreldis.2022.07.003. Epub ahead of print. PMID: 35872528.
Dzinovic I, Winkelmann J, Zech M (2022). Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing. Parkinsonism Relat Disord. 2022 Sep;102:131-140. doi: 10.1016/j.parkreldis.2022.08.019. Epub 2022 Aug 28. PMID: 36088199.
Edelson JL, Schneider LD, Amar D, Brink-Kjaer A, Cederberg KL, Kutalik Z, Hagen EW, Peppard PE, Tempaku PF, Tufik S, Evans DS, Stone K, Tranah G, Cade B, Redline S, Haba-Rubio J, Heinzer R, Marques-Vidal P, Vollenweider P, Winkelmann J, , Zou J, Mignot E (2022). The Genetic Etiology of Periodic Leg Movement in Sleep. Sleep. 2022 Jun 7:zsac121. doi: 10.1093/sleep/zsac121. Epub ahead of print. PMID: 35670608
Garavaglia B, Vallian S, Romito LM, Straccia G, Capecci M, Invernizzi F, Andrenelli E, Kazemi A, Boesch S, Kopajtich R, Olfati N, Shariati M, Shoeibi A, Sadr-Nabavi A, Prokisch H, Winkelmann J, Zech M. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. Parkinsonism Relat Disord. 2022 Apr;97:52-56. doi: 10.1016/j.parkreldis.2022.03.007. Epub 2022 Mar 16. PMID: 35306330.
Harrer P, Leppmeier V, Berger A, Demund S, Winkelmann J, Berweck S, Zech M (2022). A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020)". Eur J Med Genet. 2022 Nov;65(11):104635. doi: 10.1016/j.ejmg.2022.104635. Epub 2022 Oct 3. PMID: 36202297.
Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Abi Warde MT, Schaefer E, Kittke V, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M (2022). Recessive NUP54 variants underlie early-onset dystonia with striatal lesions. Ann Neurol. 2022 Nov 5. doi: 10.1002/ana.26544. Epub ahead of print. PMID: 36333996.
Indelicato E, Boesch S, Baumgartner M, Plecko B, Winkelmann J, Zech M (2022). Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia. Mov Disord. 2022 Nov 23. doi: 10.1002/mds.29281. Epub ahead of print. PMID: 36416405.
Ingelfinger F, Gerdes LA, Kavaka V, Krishnarajah S, Friebel E, Galli E, Zwicky P, Furrer R, Peukert C, Dutertre CA, Eglseer KM, Ginhoux F, Flierl-Hecht A, Kümpfel T, De Feo D, Schreiner B, Mundt S, Kerschensteiner M, Hohlfeld R, Beltrán E, Becher B (2022). Twin study reveals non-heritable immune perturbations in multiple sclerosis. Nature. 2022 Mar;603(7899):152-158. doi: 10.1038/s41586-022-04419-4. Epub 2022 Feb 16. PMID: 35173329.
Oeckl P, Anderl-Straub S, Danek A, Diehl-Schmid J, Fassbender K, Fliessbach K, Halbgebauer S, Huppertz HJ, Jahn H, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Prudlo J, Schneider A, Schroeter ML, Steinacker P, Volk AE, Wagner M, Winkelmann J, Wiltfang J, Ludolph AC, Otto M; FTLD Consortium (2022). Relationship of serum beta-synuclein with blood biomarkers and brain atrophy. Alzheimers Dement. 2022 Sep 21. doi: 10.1002/alz.12790. Epub ahead of print. PMID: 36129098.
Schormair B, Zhao C, Salminen AV, Oexle K, Winkelmann J; International EU-RLS-GENE Consortium (2022). Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large GWAS dataset of European ancestry. Sleep. 2022 Apr 29:zsac098. doi: 10.1093/sleep/zsac098. Epub ahead of print. PMID: 35486972.
Skorvanek M, Baloghova J, Kulcsarova K, Winkelmann J, Jech R, Ostrozovicova M, Zech M (2022). Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected. Mov Disord. 2022 Oct 11. doi: 10.1002/mds.29245. Epub ahead of print. PMID: 36221194.
Škorvánek M, Jech R, Winkelmann J, Zech M (2022). Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation. Ann Clin Transl Neurol. 2022 Mar 10. doi: 10.1002/acn3.51538. Epub ahead of print. PMID: 35267244.
Soudyab M, Shariati M, Esfehani RJ, Shalaei N, Vafadar S, Nouri V, Zech M, Winkelmann J, Shoeibi A, Sadr-Nabavi A (2022). Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants. J Mol Neurosci. 2022 Dec 15. doi: 10.1007/s12031-022-02085-9. Epub ahead of print. PMID: 36520381.
Svorenova T, Romito LM, Colangelo I, Han V, Jech R, Prokisch H, Winkelmann J, Skorvanek M, Garavaglia B, Zech M (2022). Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. Parkinsonism Relat Disord. 2022 Aug 6;102:89-91. doi: 10.1016/j.parkreldis.2022.07.026. Epub ahead of print. PMID: 35977450.
Tilch E, Schormair B, Zhao C, Högl B, Stefani A, Berger K, Trenkwalder C, Bachmann CG, Hornyak M, Fietze I, Müller-Nurasyid M, Peters A, Herms S, Nöthen MM, Müller-Myhsok B, Oexle K, Winkelmann J (2022). ExomeChip-based rare variant association study in restless legs syndrome. Sleep Med. 2022 Jun;94:26-30. doi: 10.1016/j.sleep.2022.04.001. Epub 2022 Apr 9. PMID: 35489115.
Witzel S, Wagner M, Zhao C, Kandler K, Graf E, Berutti R, Oexle K, Brenner D, Winkelmann J, Ludolph AC (2022). Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum. Neurobiol Aging. 2022 Jul 16:S0197-4580(22)00158-0. doi: 10.1016/j.neurobiolaging.2022.07.005. Epub ahead of print. PMID: 35933239.

Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M (2021). De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. Clin Genet. 2021 Feb 22. doi: 10.1111/cge.13946. Epub ahead of print. PMID: 33619735.
Cathiard L, Fraulob V, Lam DD, Torres M, Winkelmann J, Krężel W (2021). Investigation of dopaminergic signalling in Meis homeobox 1 (Meis1) deficient mice as an animal model of restless legs syndrome. J Sleep Res. 2021 May 18:e13311. doi: 10.1111/jsr.13311. Epub ahead of print. PMID: 34008292.
Chen Y, Kassam I, Lau SH, Kooner JS, Wilson R, Peters A, Winkelmann J, Chambers JC, Chow VT, Khor CC, van Dam RM, Teo YY, Loh M, Sim X (2021). Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individuals. Clin Epigenetics. 2021 Oct 20;13(1):195. doi: 10.1186/s13148-021-01162-x. PMID: 34670603; PMCID: PMC8527674.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN (2021). Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 Jul 1. doi: 10.1038/s41588-021-00886-z. Epub ahead of print. PMID: 34211179.
Dzinovic I, Serranová T, Prouteau C, Colin E, Ziegler A, Winkelmann J, Jech R, Zech M (2021). Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. Neurogenetics. 2021 Mar 6. doi: 10.1007/s10048-021-00637-6. Epub ahead of print. PMID: 33677721.
Dzinovic I, Škorvánek M, Pavelekova P, Zhao C, Keren B, Whalen S, Bakhtiari S, Chih Jin S, Kruer MC, Jech R, Winkelmann J, Zech M (2021). Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome. Ann Clin Transl Neurol. 2021 Mar 6. doi: 10.1002/acn3.51335. Epub ahead of print. PMID: 33675180.
Dzinovic I, Škorvánek M, Necpál J, Boesch S, Švantnerová J, Wagner M, Havránková P, Pavelekova P, Haň V, Janzarik WG, Berweck S, Diebold I, Kuster A, Jech R, Winkelmann J, Zech M (2021). Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series. Parkinsonism Relat Disord. 2021 Aug 11;90:73-78. doi: 10.1016/j.parkreldis.2021.08.007. Epub ahead of print. PMID: 34399161.
Lam DD, Nikolic AA, Zhao C, Mirza-Schreiber N, Krężel W, Oexle K, Winkelmann J (2021). Intronic elements associated with insomnia and restless legs syndrome exhibit cell type-specific epigenetic features contributing to MEIS1 regulation. Hum Mol Genet. 2021 Dec 9:ddab355. doi: 10.1093/hmg/ddab355. Epub ahead of print. PMID: 34888668.
Lam DD, Williams RH, Lujan E, Tanabe K, Huber G, Saw NL, Merl-Pham J, Salminen AV, Lohse D, Spendiff S, Plastini MJ, Zech M, Lochmüller H, Geerlof A, Hauck SM, Shamloo M, Wernig M, Winkelmann J (2021). Collagen VI regulates motor circuit plasticity and motor performance by cannabinoid modulation. J Neurosci. 2021 Dec 22:JN-RM-0962-21. doi: 10.1523/JNEUROSCI.0962-21.2021. Epub ahead of print. PMID: 34965974.
Matías-García PR, Ward-Caviness CK, Raffield LM, Gao X, Zhang Y, Wilson R, Gào X, Nano J, Bostom A, Colicino E, Correa A, Coull B, Eaton C, Hou L, Just AC, Kunze S, Lange L, Lange E, Lin X, Liu S, Nwanaji-Enwerem JC, Reiner A, Shen J, Schöttker B, Vokonas P, Zheng Y, Young B, Schwartz J, Horvath S, Lu A, Whitsel EA, Koenig W, Adamski J, Winkelmann J, Brenner H, Baccarelli AA, Gieger C, Peters A, Franceschini N, Waldenberger M (2021). DNAm-based signatures of accelerated aging and mortality in blood are associated with low renal function. Clin Epigenetics. 2021 Jun 2;13(1):121. doi: 10.1186/s13148-021-01082-w. PMID: 34078457; PMCID: PMC8170969.
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 (2021). Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Brain. 2021 Sep 30:awab360. doi: 10.1093/brain/awab360. Epub ahead of print. PMID: 34590685.
Monfrini E, Zech M, Steel D, Kurian MA, Winkelmann J, Di Fonzo A (2021). HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia. Brain. 2021 Apr 19:awab161. doi: 10.1093/brain/awab161. Epub ahead of print. PMID: 33871597.
Musacchio T, Zech M, Reich MM, Winkelmann J, Volkmann J (2021). A recurrent EIF2AK2 missense variant causes autosomal-dominant isolated dystonia. Ann Neurol. 2021 Apr 18. doi: 10.1002/ana.26081. Epub ahead of print. PMID: 33866603.
Necpál J, Zech M, Winkelmann J, Jech R (2021). Trisomy X syndrome with dystonia and a pathogenic SATB1 variant. Neurol Sci. 2021 May 24. doi: 10.1007/s10072-021-05320-0. Epub ahead of print. PMID: 34031799.
Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T (2021). A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Mov Disord. 2021 Oct 11. doi: 10.1002/mds.28821. Epub ahead of print. PMID: 34636445.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, El Bar-Aluma B, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Tenaiji AA, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Cecilia Poli M, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Jamra RA, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D (2021). Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 Apr 13. doi: 10.1002/humu.24206. Epub ahead of print. PMID: 33847017.
Ostrozovicova M, Jech R, Steel D, Pavelekova P, Han V, Gdovinova Z, Lichtner P, Kurian MA, Wiethoff S, Houlden H, Havránková P, Winkelmann J, Zech M, Skorvanek M (2021). A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia. Mov Disord. 2021 May 17. doi: 10.1002/mds.28647. Epub ahead of print. PMID: 33998058.
Pavelekova P, Jech R, Zech M, Krepelova A, Han V, Mosejova A, Liba Z, Urgosik D, Gdovinova Z, Havrankova P, Fecikova A, Winkelmann J, Skorvanek M (2021). Atypical presentations of DYT1 dystonia with acute craniocervical onset. Parkinsonism Relat Disord. 2021 Jan 13;83:54-55. doi: 10.1016/j.parkreldis.2020.12.019. Epub ahead of print. PMID: 33476878.
Schlosser P, Tin A, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Weihs A, Yu Z, Hoppmann A, Grundner-Culemann F, Min JL, Adeyemo AA, Agyemang C, Ärnlöv J, Aziz NA, Baccarelli A, Bochud M, Brenner H, Breteler MMB, Carmeli C, Chaker L, Chambers JC, Cole SA, Coresh J, Corre T, Correa A, Cox SR, de Klein N, Delgado GE, Domingo-Relloso A, Eckardt KU, Ekici AB, Endlich K, Evans KL, Floyd JS, Fornage M, Franke L, Fraszczyk E, Gao X, Gào X, Ghanbari M, Ghasemi S, Gieger C, Greenland P, Grove ML, Harris SE, Hemani G, Henneman P, Herder C, Horvath S, Hou L, Hurme MA, Hwang SJ, Jarvelin MR, Kardia SLR, Kasela S, Kleber ME, Koenig W, Kooner JS, Kramer H, Kronenberg F, Kühnel B, Lehtimäki T, Lind L, Liu D, Liu Y, Lloyd-Jones DM, Lohman K, Lorkowski S, Lu AT, Marioni RE, März W, McCartney DL, Meeks KAC, Milani L, Mishra PP, Nauck M, Navas-Acien A, Nowak C, Peters A, Prokisch H, Psaty BM, Raitakari OT, Ratliff SM, Reiner AP, Rosas SE, Schöttker B, Schwartz J, Sedaghat S, Smith JA, Sotoodehnia N, Stocker HR, Stringhini S, Sundström J, Swenson BR, Tellez-Plaza M, van Meurs JBJ, van Vliet-Ostaptchouk JV, Venema A, Verweij N, Walker RM, Wielscher M, Winkelmann J, Wolffenbuttel BHR, Zhao W, Zheng Y; Estonian Biobank Research Team; Genetics of DNA Methylation Consortium, Loh M, Snieder H, Levy D, Waldenberger M, Susztak K, Köttgen A, Teumer A (2021). Meta-analyses identify DNA methylation associated with kidney function and damage. Nat Commun. 2021 Dec 9;12(1):7174. doi: 10.1038/s41467-021-27234-3. PMID: 34887417.
Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R (2021). WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat Disord. 2021 Dec 2;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub ahead of print. PMID: 34890876.
Tin A, Schlosser P, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Yu Z, Weihs A, Hoppmann A, Grundner-Culemann F, Min JL, Kuhns VLH, Adeyemo AA, Agyemang C, Ärnlöv J, Aziz NA, Baccarelli A, Bochud M, Brenner H, Bressler J, Breteler MMB, Carmeli C, Chaker L, Coresh J, Corre T, Correa A, Cox SR, Delgado GE, Eckardt KU, Ekici AB, Endlich K, Floyd JS, Fraszczyk E, Gao X, Gào X, Gelber AC, Ghanbari M, Ghasemi S, Gieger C, Greenland P, Grove ML, Harris SE, Hemani G, Henneman P, Herder C, Horvath S, Hou L, Hurme MA, Hwang SJ, Kardia SLR, Kasela S, Kleber ME, Koenig W, Kooner JS, Kronenberg F, Kühnel B, Ladd-Acosta C, Lehtimäki T, Lind L, Liu D, Lloyd-Jones DM, Lorkowski S, Lu AT, Marioni RE, März W, McCartney DL, Meeks KAC, Milani L, Mishra PP, Nauck M, Nowak C, Peters A, Prokisch H, Psaty BM, Raitakari OT, Ratliff SM, Reiner AP, Schöttker B, Schwartz J, Sedaghat S, Smith JA, Sotoodehnia N, Stocker HR, Stringhini S, Sundström J, Swenson BR, van Meurs JBJ, van Vliet-Ostaptchouk JV, Venema A, Völker U, Winkelmann J, Wolffenbuttel BHR, Zhao W, Zheng Y; Estonian Biobank Research Team; Genetics of DNA Methylation Consortium, Loh M, Snieder H, Waldenberger M, Levy D, Akilesh S, Woodward OM, Susztak K, Teumer A, Köttgen A (2021). Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus. Nat Commun. 2021 Dec 9;12(1):7173. doi: 10.1038/s41467-021-27198-4. PMID: 34887389.
Wagner M, Lorenz G, Volk AE, Brunet T, Edbauer D, Berutti R, Zhao C, Anderl-Straub S, Bertram L, Danek A, Deschauer M, Dill V, Fassbender K, Fliessbach K, Götze KS, Jahn H, Kornhuber J, Landwehrmeyer B, Lauer M, Obrig H, Prudlo J, Schneider A, Schroeter ML, Uttner I, Vukovich R, Wiltfang J, Winkler AS, Zhou Q, Ludolph AC; German FTLD consortium, Oexle K, Otto M, Diehl-Schmid J, Winkelmann J (2021). Clinico-genetic findings in 509 frontotemporal dementia patients. Mol Psychiatry. 2021 Sep 24. doi: 10.1038/s41380-021-01271-2. Epub ahead of print. PMID: 34561610.
Winter B, Krämer J, Meinhardt T, Berner D, Alt K, Wenzel M, Winkelmann J, Zech M (2021). NR4A2 and Dystonia with Dopa Responsiveness. Mov Disord. 2021 Jun 21. doi: 10.1002/mds.28701. Epub ahead of print. PMID: 34155693.
Zech M, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Dincer Y, Sadr-Nabavi A, Serranová T, Rektorová I, Havránková P, Ganai S, Mosejová A, Příhodová I, Šarláková J, Kulcsarová K, Ulmanová O, Bechyně K, Ostrozovičová M, Haň V, Ventosa JR, Shariati M, Shoeibi A, Weber S, Mollenhauer B, Trenkwalder C, Berutti R, Strom TM, Ceballos-Baumann A, Mall V, Haslinger B, Jech R, Winkelmann J (2021). Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. Parkinsonism Relat Disord. 2021 Feb 12;84:129-134. doi: 10.1016/j.parkreldis.2021.02.013. Epub ahead of print. PMID: 33611074.
Zech M, Jech R, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Sadr-Nabavi A, Distelmaier F, Krenn M, Serranová T, Rektorová I, Havránková P, Mosejová A, Příhodová I, Šarláková J, Kulcsarová K, Ulmanová O, Bechyně K, Ostrozovičová M, Haň V, Ventosa JR, Brunet T, Berutti R, Shariati M, Shoeibi A, Schneider SA, Kuster A, Baumann M, Weise D, Wilbert F, Janzarik WG, Eckenweiler M, Mall V, Haslinger B, Berweck S, Winkelmann J, Oexle K (2021). Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study. Mov Disord. 2021 May 5. doi: 10.1002/mds.28614. Epub ahead of print. PMID: 33949708.
Zech M, Seibt A, Zumbaum B, Klee D, Meitinger T, Winkelmann J, Mayatpepek E, Wagner M, Distelmaier F (2021). MATR3 haploinsufficiency and early-onset neurodegeneration. Brain. 2021 Jun 26:awab240. doi: 10.1093/brain/awab240. Epub ahead of print. PMID: 34173818.
Zech M, Steel D, Kurian MA, Winkelmann J. Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia". Ann Neurol. 2021 Mar;89(3):626. doi: 10.1002/ana.25988. Epub 2020 Dec 22. PMID: 33305837.
Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S (2021). Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Mov Disord. 2021 Oct 1. doi: 10.1002/mds.28804. Epub ahead of print. PMID: 34596301.
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 (2021). Variants in mitochondrial ATP synthase cause variable neurologic phenotypes. Ann Neurol. 2021 Dec 26. doi: 10.1002/ana.26293. Epub ahead of print. PMID: 34954817.

Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Jimenez JCDR, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M (2020). Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet Med. 2020 Nov 11. doi: 10.1038/s41436-020-00993-y. Epub ahead of print. PMID: 33173220.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study, Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ (2020). Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. PMID: 33268356.
Hopfner F, Mueller SH, Szymczak S, Junge O, Tittmann L, May S, Lohmann K, Grallert H, Lieb W, Strauch K, Müller-Nurasyid M, Berger K, Schormair B, Winkelmann J, Mollenhauer B, Trenkwalder C, Maetzler W, Berg D, Kasten M, Klein C, Höglinger GU, Gasser T, Deuschl G, Franke A, Krawczak M, Dempfle A, Kuhlenbäumer G (2020). Rare Variants in Specific Lysosomal Genes Are Associated with Parkinson's Disease. Mov Disord. 2020 Apr 8. doi: 10.1002/mds.28037. [Epub ahead of print]
Hopfner F, Mueller SH, Szymczak S, Junge O, Tittmann L, May S, Lohmann K, Grallert H, Lieb W, Strauch K, Müller-Nurasyid M, Berger K, Schormair B, Winkelmann J, Mollenhauer B, Trenkwalder C, Maetzler W, Berg D, Kasten M, Klein C, Höglinger GU, Gasser T, Deuschl G, Franke A, Krawczak M, Dempfle A, Kuhlenbäumer G (2020). Private variants in PRKN are associated with late-onset Parkinson's disease. Parkinsonism Relat Disord. 2020;75:24‐26. doi:10.1016/j.parkreldis.2020.05.003 [published online ahead of print, 2020 May 11].
Hopfner F, Höglinger GU, Kuhlenbäumer G, Pottegård A, Wod M, Christensen K, Tanner CM, Deuschl G (2020). β-adrenoreceptors and the risk of Parkinson's disease. Lancet Neurol. 2020 Jan 27. pii: S1474-4422(19)30400-4. doi: 10.1016/S1474-4422(19)30400-4. [Epub ahead of print]
Licata A, Grimmer T, Winkelmann J, Wagner M, Goldhardt O, Riedl L, Roßmeier C, Yakushev I, Diehl-Schmid J (2020). Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations. Amyotroph Lateral Scler Frontotemporal Degener. 2020;1-7. doi:10.1080/21678421.2020.1779302 [published online ahead of print, 2020 Jun 22]
Necpál J, Zech M, Valachová A, Sedláček Z, Bendová Š, Hančárová M, Okáľová K, Winkelmann J, Jech R (2020). Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier. Parkinsonism Relat Disord. 2020;77:87-88. doi:10.1016/j.parkreldis.2020.06.028 [published online ahead of print, 2020 Jun 29].
Sailani MR, Jahanbani F, Abbott CW, Lee H, Zia A, Rego S, Winkelmann J, Hopfner F, Khan TN, Katsanis N, Müller SH, Berg D, Lyman KM, Mychajliw C, Deuschl G, Bernstein JA, Kuhlenbäumer G, Snyder MP (2020). Candidate variants in TUB are associated with familial tremor. PLoS Genet. 2020 Sep 21;16(9):e1009010. doi: 10.1371/journal.pgen.1009010. PMID: 32956375.
Salminen AV, Schandra N, Schormair B, Oexle K, Winkelmann J (2020). Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome. J Clin Sleep Med. 2020;10.5664/jcsm.8696. doi:10.5664/jcsm.8696 [published online ahead of print, 2020 Jul 30]
Singh S, Gupta A, Zech M, Sigafoos AN, Clark KJ, Dincer Y, Wagner M, Humberson JB, Green S, van Gassen K, Brandt T, Schnur RE, Millan F, Si Y, Mall V, Winkelmann J, Gavrilova RH, Klee EW, Engleman K, Safina NP, Slaugh R, Bryant EM, Tan WH, Granadillo J, Misra SN, Schaefer GB, Towner S, Brilstra EH, Koeleman BPC (2020). De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. Genet Med. 2020 May 5. doi: 10.1038/s41436-020-0815-4. [Epub ahead of print]
Steel D, Zech M, Zhao C, Barwick KE, 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 (2020). Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities. Ann Neurol. 2020;10.1002/ana.25879. doi:10.1002/ana.25879 [published online ahead of print, 2020 Aug 18].
Zech M, Bardakjian TM, Stoklosa M, Ploski R, Jech R, Gonzalez-Alegre P, Winkelmann J (2020). A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants. Mov Disord. 2020 Nov 19. doi: 10.1002/mds.28398. Epub ahead of print. PMID: 33211350.
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J (2020). Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. Parkinsonism Relat Disord. 2020;77:70-75. doi:10.1016/j.parkreldis.2020.06.027 [published online ahead of print, 2020 Jun 29].
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, Ramos-Rivera GA, 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, Zamora FM, 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 (2020). Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801.
Zech M, Steel D, Kurian MA, Winkelmann J. Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia". Ann Neurol. 2021 Mar;89(3):626. doi: 10.1002/ana.25988. Epub 2020 Dec 22. PMID: 33305837.

Götzl JK, Brendel M, Werner G, Parhizkar S, Sebastian Monasor L, Kleinberger G, Colombo AV, Deussing M, Wagner M, Winkelmann J, Diehl-Schmid J, Levin J, Fellerer K, Reifschneider A, Bultmann S, Bartenstein P, Haass C (2019). Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism. EMBO Mol Med. 2019 May 23. pii: e9711. doi: 10.15252/emmm.201809711. [Epub ahead of print]
Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, Fečíková A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J (2019). Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genet Med. 2019 Apr 30. doi: 10.1038/s41436-019-0523-0. [Epub ahead of print]
Lane JM, Jones SE, Dashti HS, Wood AR, Aragam KG, van Hees VT, Strand LB, Winsvold BS, Wang H, Bowden J, Song Y, Patel K, Anderson SG, Beaumont RN, Bechtold DA, Cade BE, Haas M, Kathiresan S, Little MA, Luik AI, Loudon AS, Purcell S, Richmond RC, Scheer FAJL, Schormair B, Tyrrell J, Winkelman JW, Winkelmann J, HUNT All In Sleep, Hveem K, Zhao C, Nielsen JB, Willer CJ, Redline S, Spiegelhalder K, Kyle SD, Ray DW, Zwart JA, Brumpton B, Frayling TM, Lawlor DA, Rutter MK, Weedon MN, Saxena R (2019). Biological and clinical insights from genetics of insomnia symptoms. Nat Genet. 2019 Mar;51(3):387-393. doi: 10.1038/s41588-019-0361-7. Epub 2019 Feb 25. ]
Rietschel M, Winkelmann J (2019). [Genetics in neurology and psychiatry]. [Article in German] Nervenarzt. 2019 Feb;90(2):97-98. doi: 10.1007/s00115-019-0672-z.
Salminen AV, Allen RP, Högl B, Inoue Y, Oertel W, Winkelman JW, Trenkwalder C, Sampaio C, Winkelmann J. Reply to: A note on rotigotine for restless legs syndrome after renal transplantation. Mov Disord. 2019 Jan;34(1):152-153. doi: 10.1002/mds.27570. PMID: 30653726.
Salminen AV, Allen RP, Högl B, Inoue Y, Oertel W, Winkelman JW, Trenkwalder C, Sampaio C, Winkelmann J. Reply to: Safety of dopamine agonists for treating restless legs syndrome. Mov Disord. 2019 Jan;34(1):150-151. doi: 10.1002/mds.27571. PMID: 30653723.
Salminen AV, Lam DD, Winkelmann J (2019). Role of MEIS1 in restless legs syndrome: From GWAS to functional studies in mice. Adv Pharmacol. 2019;84:175-184. doi: 10.1016/bs.apha.2019.03.003. Epub 2019 Apr 9.
Tilch E, Schormair B, Zhao C, Salminen AV, Antic Nikolic A, Holzknecht E, Högl B, Poewe W, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Fietze I, Berger K, Lichtner P, Gieger C, Peters A, Müller-Myhsok B, Hoischen A, Winkelmann J, Oexle K (2019). Identification of Restless Legs Syndrome Genes by Mutational Load Analysis. Ann Neurol. 2019 Dec 1. doi: 10.1002/ana.25658. [Epub ahead of print]
Vollstedt EJ, Kasten M, Klein C; MJFF Global Genetic Parkinson's Disease Study Group (i.a. Winkelmann J (2019). Using global team science to identify genetic Parkinson's disease worldwide. Ann Neurol. 2019 Jun 2. doi: 10.1002/ana.25514. [Epub ahead of print]
Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R (2019). Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9.
Zech M, Lam DD, Winkelmann J (2019). Update on KMT2B-Related Dystonia. Curr Neurol Neurosci Rep. 2019 Nov 25;19(11):92. doi: 10.1007/s11910-019-1007-y.

Barbagiovanni G, Germain PL, Zech M, Atashpaz S, Lo Riso P, D'Antonio-Chronowska A, Tenderini E, Caiazzo M, Boesch S, Jech R, Haslinger B, Broccoli V, Stewart AF, Winkelmann J, Testa G (2018). KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes. Cell Rep. 2018 Oct 23;25(4):988-1001. doi: 10.1016/j.celrep.2018.09.067.
Bartl M, Winkelmann J, Högl B, Paulus W, Trenkwalder C (2018). [Frequent neurological diseases associated with the restless legs syndrome]. [Article in German] Nervenarzt. 2018 May 7. doi: 10.1007/s00115-018-0528-y. [Epub ahead of print]
Necpál J, Zech M, Škorvánek M, Havránková P, Fečíková A, Winkelmann J, Jech R (2018). Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia. Mov Disord Clin Pract. 2017 Dec 3;5(1):89-91. doi: 10.1002/mdc3.12564. eCollection 2018 Jan-Feb.
Oexle K, Winkelmann J (2018). Common Grounds for Family Maladies. Neuron. 2018 May 16;98(4):671-672. doi: 10.1016/j.neuron.2018.05.006.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R (2018). Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. Lancet Neurol. 2018 Apr 30. pii: S1474-4422(18)30126-1. doi: 10.1016/S1474-4422(18)30126-1. [Epub ahead of print]
Salminen AV, Winkelmann J (2018). Restless Legs Syndrome and Other Movement Disorders of Sleep-Treatment Update. Curr Treat Options Neurol. 2018 Nov 9;20(12):55. doi: 10.1007/s11940-018-0540-3.
Trenkwalder C, Allen R, Högl B, Clemens S, Patton S, Schormair B, Winkelmann J (2018). Comorbidities, treatment, and pathophysiology in restless legs syndrome. Lancet Neurol. 2018 Sep 20. pii: S1474-4422(18)30311-9. doi: 10.1016/S1474-4422(18)30311-9. [Epub ahead of print]
Winkelmann J, Allen RP, Högl B, Inoue Y, Oertel W, Salminen AV, Winkelman JW, Trenkwalder C, Sampaio C (2018). Treatment of restless legs syndrome: Evidence-based review and implications for clinical practice (Revised 2017)§. Mov Disord. 2018 May 14. doi: 10.1002/mds.27260. [Epub ahead of print]
Zech M, Lam DD, Weber S, Berutti R, Poláková K, Havránková P, Fečíková A, Strom TM, Růžička E, Jech R, Winkelmann J (2018). A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder. Cold Spring Harb Mol Case Stud. 2018 Sep 27. pii: mcs.a003293. doi: 10.1101/mcs.a003293. [Epub ahead of print]

Hammerschlag AR, Stringer S, de Leeuw CA, Sniekers S, Taskesen E, Watanabe K, Blanken TF, Dekker K, Te Lindert BHW, Wassing R, Jonsdottir I, Thorleifsson G, Stefansson H, Gislason T, Berger K, Schormair B, Wellmann J, Winkelmann J, Stefansson K, Oexle K, Van Someren EJW, Posthuma D (2017). Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits. Nat Genet. 2017 Jun 12. doi: 10.1038/ng.3888. [Epub ahead of print]
Jochim A, Li Y, Zech M, Lam D, Gross N, Koch K, Zimmer C, Winkelmann J, Haslinger B (2017). Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). Parkinsonism Relat Disord. 2017 Oct 14. pii: S1353-8020(17)30379-6. doi: 10.1016/j.parkreldis.2017.10.008. [Epub ahead of print]
Salminen AV, Garrett L, Schormair B, Rozman J, Giesert F, Niedermeier KM, Becker L, Rathkolb B, Rácz I; German Mouse Clinic Consortium, Klingenspor M, Klopstock T, Wolf E, Zimmer A, Gailus-Durner V, Torres M, Fuchs H, de Angelis MH, Wurst W, Hölter SM, Winkelmann J (2017). Meis1 effects on motor phenotypes and the sensorimotor system in mice. Dis Model Mech. 2017 Jun 23. pii: dmm.030080. doi: 10.1242/dmm.030080. [Epub ahead of print] .
Salminen AV, Schormair B, Flachskamm C, Torres M, Müller-Myhsok B, Kimura M, Winkelmann J (2017). Sleep disturbance by pramipexole is modified by Meis1 in mice. J Sleep Res. 2017 Jul 11. doi: 10.1111/jsr.12557. [Epub ahead of print]
Schludi MH, Becker L, Garrett L, Gendron TF, Zhou Q, Schreiber F, Popper B, Dimou L, Strom TM, Winkelmann J, von Thaden A, Rentzsch K, May S, Michaelsen M, Schwenk BM, Tan J, Schoser B, Dieterich M, Petrucelli L, Hölter SM, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Klopstock T, Arzberger T, Edbauer D (2017). Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss. Acta Neuropathol. 2017 Apr 13. doi: 10.1007/s00401-017-1711-0. [Epub ahead of print]
Schormair B, Kemlink D, Mollenhauer B, Fiala O, Machetanz G, Roth J, Berutti R, Strom TM, Haslinger B, Trenkwalder C, Zahorakova D, Martasek P, Ruzicka E, Winkelmann J (2017). Diagnostic exome sequencing in early-onset Parkinson’s disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson’s disease. Clin Genet. 2017 Sep 1. doi: 10.1111/cge.13124. [Epub ahead of print]
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 (2017). 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 Nov;16(11):898-907. doi: 10.1016/S1474-4422(17)30327-7.
Trenkwalder C, Winkelmann J, Oertel W, Virgin G, Roubert B, Mezzacasa A; FCM-RLS Study Investigators (2017). Ferric carboxymaltose in patients with restless legs syndrome and nonanemic iron deficiency: A randomized trial. Mov Disord. 2017 Jun 23. doi: 10.1002/mds.27040. [Epub ahead of print]
Zech M, Jech R, Havránková P, Fečíková A, Berutti R, Urgošík D, Kemlink D, Strom TM, Roth J, Růžička E, Winkelmann J (2017). KMT2B rare missense variants in generalized dystonia. Mov Disord. 2017 May 18. doi: 10.1002/mds.27026. [Epub ahead of print]
Zech M, Poustka K, Boesch S, Berutti R, Strom TM, Grisold W, Poewe W, Winkelmann J (2017). SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities. Case Rep Genet. 2017;2017:2721615. doi: 10.1155/2017/2721615. Epub 2017 Oct 29.
Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, Jochim A, Berutti R, Havránková P, Fečíková A, Kemlink D, Roth J, Strom TM, Poewe W, Růžička E, Haslinger B, Winkelmann J (2017). Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing. Neurogenetics. 2017 Aug 28. doi: 10.1007/s10048-017-0521-9. [Epub ahead of print]

Aridon P, De Fusco M, Winkelmann JW, Zucconi M, Arnao V, Ferini-Strambi L, Casari G (2016). A TRAPPC6B splicing variant associates to restless legs syndrome. Parkinsonism Relat Disord. 2016 Aug 18. pii: S1353-8020(16)30320-0. doi: 10.1016/j.parkreldis.2016.08.016. [Epub ahead of print]
Garcia-Borreguero D, Silber MH, Winkelman JW, Högl B, Bainbridge J, Buchfuhrer M, Hadjigeorgiou G, Inoue Y, Manconi M, Oertel W, Ondo W, Winkelmann J, Allen R (2016). Guidelines for the first-line treatment of restless legs syndrome/Willis-Ekbom disease, prevention and treatment of dopaminergic augmentation: a combined task force of the IRLSSG, EURLSSG, and the RLS-foundation. Sleep Med. 2016 May;21:1-11. doi: 10.1016/j.sleep.2016.01.017. Epub 2016 Feb 23.
Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Ladwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA (2016). Genome-wide association study in essential tremor identifies three new loci. Brain. 2016 Oct 20. pii: aww242. [Epub ahead of print]
Schulte EC, Altmaier E, Berger HS, Do KT, Kastenmüller G, Wahl S, Adamski J, Peters A, Krumsiek J, Suhre K, Haslinger B, Ceballos-Baumann A, Gieger C, Winkelmann J (2016). Alterations in lipid and inositol metabolisms in two dopaminergic disorders. PLoS One. 2016 Jan 25;11(1):e0147129. doi: 10.1371/journal.pone.0147129. eCollection 2016
Szentkirályi A, Völzke H, Hoffmann W, Winkelmann J, Berger K. Lack of Association between Genetic Risk Loci for Restless Legs Syndrome and Multimorbidity. Sleep. 2016 Jan 1;39(1):111-5. doi: 10.5665/sleep.5328. PMID: 26350469; PMCID: PMC4678341.
Trenkwalder C, Allen R, Högl B, Paulus W, Winkelmann J (2016). Restless legs syndrome associated with major diseases: A systematic review and new concept. Neurology. 2016 Mar 4. pii: 10.1212/WNL.0000000000002542. [Epub ahead of print]
Winkelmann J, Schormair B, Xiong L, Dion PA, Rye DB, Rouleau GA (2016). Genetics of restless legs syndrome. Sleep Med. 2016 Nov 12. pii: S1389-9457(16)30255-6. doi: 10.1016/j.sleep.2016.10.012. [Epub ahead of print]
Zech M, Jochim A, Boesch S, Weber S, Meindl T, Peters A, Gieger C, Mueller J, Messner M, Ceballos-Baumann A, Poewe W, Haslinger B, Winkelmann J (2016). Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls. Parkinsonism Relat Disord. 2016 Jul 25. pii: S1353-8020(16)30277-2. doi: 10.1016/j.parkreldis.2016.07.013. [Epub ahead of print]
Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J. (2016). Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. Mov Disord. 2016 Sep 26. doi: 10.1002/mds.26808. [Epub ahead of print]
Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM, Winkelmann J (2016). Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. Am J Hum Genet. 2016 Nov 9. pii: S0002-9297(16)30446-3. doi: 10.1016/j.ajhg.2016.10.010. [Epub ahead of print]

Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordström U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelmann J, de Carvalho M, Thal DR, Otto M, Brännström T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH (2015). Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci. 2015 Mar 24. doi: 10.1038/nn.4000. [Epub ahead of print]
International Multiple Sclerosis Genetics Consortium; International IBD Genetics Consortium (IIBDGC) , ( i.a. Winkelmann J, Hemmer B) (2015). Class II HLA interactions modulate genetic risk for multiple sclerosis. Nat Genet. 2015 Sep 7. doi: 10.1038/ng.3395. [Epub ahead of print]
Jochim A, Zech M, Gora-Stahlberg G, Winkelmann J, Haslinger B (2015). The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). Mov Disord. 2015 Dec 21. doi: 10.1002/mds.26501. [Epub ahead of print]
Li J, Jørgensen SF, Maggadottir SM, Bakay M, Warnatz K, Glessner J, Pandey R, Salzer U, Schmidt RE, Perez E, Resnick E, Goldacker S, Buchta M, Witte T, Padyukov L, Videm V, Folseraas T, Atschekzei F, Elder JT, Nair RP, Winkelmann J, Gieger C, Nöthen MM, Büning C, Brand S, Sullivan KE, Orange JS, Fevang B, Schreiber S, Lieb W, Aukrust P, Chapel H, Cunningham-Rundles C, Franke A, Karlsen TH, Grimbacher B, Hakonarson H, Hammarström L, Ellinghaus E (2015). Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. Nat Commun. 2015 Apr 20;6:6804. doi: 10.1038/ncomms7804
Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J (2015). Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. Eur J Hum Genet. 2015 Jan 21. doi: 10.1038/ejhg.2014.300. [Epub ahead of print]
Schulte EC, Kurz A, Alexopoulos P, Hampel H, Peters A, Gieger C, Rujescu D, Diehl-Schmid J, Winkelmann J. Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease. Hum Genome Var. 2015 Jan 9;2:14028. doi: 10.1038/hgv.2014.28. PMID: 27081517; PMCID: PMC4785568.
Trenkwalder C, Winkelmann J, Inoue Y, Paulus W (2015). Restless legs syndrome-current therapies and management of augmentation. Nat Rev Neurol. 2015 Jul 28. doi: 10.1038/nrneurol.2015.122. [Epub ahead of print]
Zech M, Castrop F, Haslinger B, Winkelmann J (2015). Reply to Letter: Novel Compound Heterozygous Mutations in PRKRA Cause Pure Dystonia. Mov Disord. 2015 Apr 25. doi: 10.1002/mds.26233. [Epub ahead of print]
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 (2015). Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia. Am J Hum Genet. 2015 May 13. pii: S0002-9297(15)00147-0. doi: 10.1016/j.ajhg.2015.04.010. [Epub ahead of print]
Zech M, Boesch S, Sycha T, Mueller J, Poewe W, Winkelmann J (2015). TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia. Mov Disord. 2015 Oct 28. doi: 10.1002/mds.26458. [Epub ahead of print]
Zech M, Boesch S, Jochim A, Graf S, Lichtner P, Peters A, Gieger C, Mueller J, Poewe W, Haslinger B, Winkelmann J (2015). Large-scale TUBB4A mutational screening in isolated dystonia and controls. Parkinsonism Relat Disord. 2015 Aug 20. pii: S1353-8020(15)00356-9. doi: 10.1016/j.parkreldis.2015.08.017. [Epub ahead of print]

Benyamin B, Esko T, Ried JS, Radhakrishnan A, Vermeulen SH, Traglia M, Gögele M, Anderson D, Broer L, Podmore C, Luan J, Kutalik Z, Sanna S, van der Meer P, Tanaka T, Wang F, Westra HJ, Franke L, Mihailov E, Milani L, Häldin J, Winkelmann J, Meitinger T, Thiery J, Peters A, Waldenberger M, Rendon A, Jolley J, Sambrook J, Kiemeney LA, Sweep FC, Sala CF, Schwienbacher C, Pichler I, Hui J, Demirkan A, Isaacs A, Amin N, Steri M, Waeber G, Verweij N, Powell JE, Nyholt DR, Heath AC, Madden PA, Visscher PM, Wright MJ, Montgomery GW, Martin NG, Hernandez D, Bandinelli S, van der Harst P, Uda M, Vollenweider P, Scott RA, Langenberg C, Wareham NJ; InterAct Consortium, van Duijn C, Beilby J, Pramstaller PP, Hicks AA, Ouwehand WH, Oexle K, Gieger C, Metspalu A, Camaschella C, Toniolo D, Swinkels DW, Whitfield JB (2014). Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nat Commun. 2014 Oct 29;5:4926. doi: 10.1038/ncomms5926.
Elkan PN, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes P, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E (2014). Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy. N Engl J Med. 2014 Feb 19. [Epub ahead of print]
Schulte EC, Kaffe M, Schormair B, Winkelmann J. Iron in Restless Legs Syndrome. Mov Disord Clin Pract. 2014 Jun 12;1(3):161-172. doi: 10.1002/mdc3.12047. PMID: 30363981; PMCID: PMC6183309.
Schulte EC, Schramm K, Schurmann C, Lichtner P, Herder C, Roden M, Gieger C, Peters A, Trenkwalder C, Högl B, Frauscher B, Berger K, Fietze I, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Zimprich A, Völzke H, Schminke U Nauck M, Illig T, Meitinger T, Müller-Myhsok B, Prokisch H, Winkelmann J (2014). Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome. PLoS One. 2014 May 29;9(5):e98092. doi: 10.1371/journal.pone.0098092. eCollection 2014.
Schulte EC, Kousi M, Tan PL, Tilch E, Knauf F, Lichtner P, Trenkwalder C, Högl B, Frauscher B, Berger K, Fietze I, Hornyak M, Oertel WH, Bachmann CG, Zimprich A, Peters A, Gieger C, Meitinger T, Müller-Myhsok B, Katsanis N, Winkelmann J (2014). Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome. Am J Hum Genet. 2014 Jul 3;95(1):85-95. doi: 10.1016/j.ajhg.2014.06.005
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, Hrabe de Angelis M, Beckers J, Hölter SM, Meitinger T, Hauck SM, Laumen H, Wurst W, Casares F, Gómez-Skarmeta JL, Winkelmann J (2014). Restless Legs Syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon. Genome Res. 2014 Mar 18. [Epub ahead of print]
Zech M, Castrop F, Schormair B, Jochim A, Wieland T, Gross N, Lichtner P, Peters A, Gieger C, Meitinger T, Strom TM, Oexle K, Haslinger B, Winkelmann J (2014). DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family. Mov Disord. 2014 Aug 20. doi: 10.1002/mds.25981. [Epub ahead of print]

Buck D, Albrecht E, Aslam M, Goris A, Hauenstein N, Jochim A; International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium, Cepok S, Grummel V, Dubois B, Berthele A, Lichtner P, Gieger C, Winkelmann J, Hemmer B (2013). Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis. Ann Neurol. 73(1):86-94 (2013)
Dauvilliers Y, Winkelmann J (2013). Restless legs syndrome: update on pathogenesis. Curr Opin Pulm Med. 2013 Sep 16. [Epub ahead of print]
Faraco J, Lin L, Kornum BR, Kenny EE, Trynka G, Einen M, Rico TJ, Lichtner P, Dauvilliers Y, Arnulf I, Lecendreux M, Javidi S, Geisler P, Mayer G, Pizza F, Poli F, Plazzi G, Overeem S, Lammers GJ, Kemlink D, Sonka K, Nevsimalova S, Rouleau G, Desautels A, Montplaisir J, Frauscher B, Ehrmann L, Högl B, Jennum P, Bourgin P, Peraita-Adrados R, Iranzo A, Bassetti C, Chen WM, Concannon P, Thompson SD, Damotte V, Fontaine B, Breban M, Gieger C, Klopp N, Deloukas P, Wijmenga C, Hallmayer J, Onengut-Gumuscu S, Rich SS, Winkelmann J, Mignot E (2013). ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy. PLoS Genet. 2013 Feb;9(2):e1003270. doi: 10.1371/journal.pgen.1003270. Epub 2013 Feb 14.
International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, 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 HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF; Wellcome Trust Case Control Consortium 2 (WTCCC2); International IBD Genetics Consortium (IIBDGC), Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, 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 SE, Jagodic M, Jelčić 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 MH, Leone MA, Leppä V, Liberatore G, Lie BA, Lill CM, Lindén M, Link J, Luessi F, Lycke J, Macciardi F, Männistö S, Manrique CP, Martin R, Martinelli V, Mason D, Mazibrada G, McCabe C, Mero IL, Mescheriakova J, Moutsianas L, Myhr KM, Nagels G, Nicholas R, Nilsson P, Piehl F, Pirinen M, Price SE, Quach H, Reunanen M, Robberecht W, Robertson NP, Rodegher M, Rog D, Salvetti M, Schnetz-Boutaud NC, Sellebjerg F, Selter RC, Schaefer C, Shaunak S, Shen L, Shields S, Siffrin V, Slee M, Sorensen PS, Sorosina M, Sospedra M, Spurkland A, Strange A, Sundqvist E, Thijs V, Thorpe J, Ticca A, Tienari P, van Duijn C, Visser EM, Vucic S, Westerlind H, Wiley JS, Wilkins A, Wilson JF, Winkelmann J, Zajicek J, Zindler E, Haines JL, Pericak-Vance MA, Ivinson AJ, Stewart G, Hafler D, Hauser SL, Compston A, McVean G, De Jager P, Sawcer SJ, McCauley JL (2013). Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet. 2013 Sep 29. doi: 10.1038/ng.2770. [Epub ahead of print]
Schulte EC, Ellwanger DC, 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, Pirker W, Zimprich A, Brücke T, Lichtner P, Peters A, Gieger C, Trenkwalder C, Mewes HW, Meitinger T, Lewis PA, Klünemann HH, Winkelmann J (2013). Rare variants in LRRK1 and Parkinson's disease. Neurogenetics. 2014 Mar;15(1):49-57. doi: 10.1007/s10048-013-0383-8. Epub 2013 Nov 16.
Schulte EC, Gross N, Slawik H, Winkelmann J (2013). "Malignant restless legs syndrome"-A curse or a blessing? Sleep Med. 2013 Nov 11. pii: S1389-9457(13)01200-8. doi: 10.1016/j.sleep.2013.10.007. [Epub ahead of print]
Schulte EC, Stahl I, Czamara D, Ellwanger DC, Eck S, Graf E, Mollenhauer B, Zimprich A, Lichtner P, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Peters A, Gieger C, Müller-Myhsok B, Trenkwalder C, Winkelmann J (2013). Rare Variants in PLXNA4 and Parkinson's Disease. PLoS One. 2013 Nov 11;8(11):e79145. doi: 10.1371/journal.pone.0079145.
Schwenk BM, Lang CM, Hogl S, Tahirovic S, Orozco D, Rentzsch K, Lichtenthaler SF, Hoogenraad CC, Capell A, Haass C, Edbauer D (2013). The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes. EMBO J. 2013 Dec 19. [Epub ahead of print]
Trenkwalder C, Beneš H, Grote L, García-Borreguero D, Högl B, Hopp M, Bosse B, Oksche A, Reimer K, Winkelmann J, Allen RP, Kohnen R (2013). 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. Lancet Neurol. 2013 Oct 18. pii: S1474-4422(13)70239-4. doi: 10.1016/S1474-4422(13)70239-4. [Epub ahead of print]
Zech M, Gross N, Jochim A, Castrop F, Kaffe M, Dresel C, Lichtner P, Peters A, Gieger C, Meitinger T, Haslinger B, Winkelmann J (2013). Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Mov Disord. 2013 Oct 22. doi: 10.1002/mds.25715. [Epub ahead of print]
Zech M, Nübling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Lichtner P, Peters A, Gieger C, Marquardt T, Vanier MT, Latour P, Klünemann H, Trenkwalder C, Diehl-Schmid J, Perneczky R, Meitinger T, Oexle K, Haslinger B, Lorenzl S, Winkelmann J (2013). Niemann-pick C disease gene mutations and age-related neurodegenerative disorders. PLoS One. 2013 Dec 30;8(12):e82879. doi: 10.1371/journal.pone.0082879.

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