Munich Cluster for Systems Neurology
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Publications Winkelmann

2023

  • 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.
  • 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.

2022

2021

  • 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)
    athogenic 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, 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.

2020

  • 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].
  • 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, 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, 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.

2019

2018

2017

2016

2015

2014

2013

  • 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.
  • 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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