Ana Westenberger, née Djarmati
Ana Westenberger, née Djarmati, PhD
Research group leader
Phone number:+49 451 3101 8208

Current Position:

Group leader ‘Functional Neurogenetics of Movement Disorders’

Research Focus:

Identification and functional characterization of the structural and epigenetic DNA changes that cause various movement disorders, mainly dystonia, spinocerebellar ataxias, and Parkinson’s disease
Education & Scientific training

Education:

10/1996 – 12/2001 Undergraduate student of Molecular Biology and Physiology at the Faculty of Biology, University of Belgrade, Serbia

02/2001 – 11/2001 Diploma thesis; University of Belgrade (Belgrade, Serbia), Department of Biochemistry and Molecular Genetics, Center for Human Molecular Genetics (Director: Dr. S. Romac)
„Detection of mutations in the SOD1 gene in ALS patients“ 
Bachelor of Science (Dipl.-Biol.)

01/2002 – 12/2003 Master of Science thesis; University of Belgrade (Belgrade, Serbia), Department of Biochemistry and Molecular Genetics, Center for Human Molecular Genetics (Direktor: Dr. S. Romac) and Clinical Center of Serbia, Department of neurodegenerative diseases (Director: Dr. V. S. Kostic) 
“Genetic characterization of a large cohort of Rett syndrome patients” 
Master of Science

01/2004 – 02/2006 Doctoral thesis; University of Belgrade (Belgrade, Serbia), Department of Biochemistry and Molecular Genetics, Center for Human Molecular Genetics (Director: Dr. S. Romac) and Clinical Center of Serbia, Department of neurodegenerative diseases (Director: Dr. V. S. Kostic) 
„Molecular genetic study of early-onset Parkinson’s disease“ PhD

Scientific training:

01/2002 – 01/2004 University of Belgrade (Belgrade, Serbia), Department of Biochemistry and Molecular Genetics, Center for Human Molecular Genetics, supervised by Dr. S. Romac
Involved in several projects related to molecular diagnostics of neurological disorders

11/2002 – 03/2003 University of Lübeck (Lübeck, Germany), Institute of Neurogenetics, supervised by Dr. C. Klein

02/2002 – present Involved in several projects related to genetics and functional analysis of movement disorders

02/2009 – 10/2010 University of Michigan (Ann Arbor, USA), Department of Neurology, Henry L. Paulson Laboratory, supervised by Prof. Dr. H. L. Paulson
Investigation of biological roles of the Parkin protein in ubiquitination and physiological consequences thereof

Awards & Memberships

Awards:

2000 Scholarship from the Serbian Ministry of Science and Technology
2004 Fellowship from the Gottlieb Daimler and Karl Benz Foundation
2005 Fellowship from the German Research Foundation (DFG)
2008 Travel grant from the Movement Disorder Society
2008 Felgenhauer fellowship from the German Neurological Society (DGN)
2009 David Marsden Award 2009 from the European Dystonia Federation
2010 Fellowship from the German Research Foundation (DFG)

2011 Travel grant from the GlaxoSmithKline Foundation  
2014 Travel grant from the Movement Disorder Society

 

Memberships:

German Neurological Society (DGN)
German Society of Neurogenetics (DGNG)

Research Funding

Title: “Novel causes of inherited ataxias”
Principal Investigator
Agency: University of Lübeck, Germany (Intramural funding)
Type: Research Grant
Funding period: January 2008 - June 2009
Amount: 60,000 €

Title: “Role of the PRKRA (DYT16) gene in different forms of dystonia”
Co-Principal Investigator (Principal Investigator: Christine Klein, MD)
Agency: German Research Foundation (DFG)
Type: Research Grant
Funding period: July 2008 - June 2009
Amount: 130,000 €

Title: "Parkin and its E3 ubiquitin ligase activity in the mitochondrial clearance pathway"”
Principal Investigator
Agency: University of Lübeck, Germany (Intramural funding for women researchers)
Type: Research Grant
Funding period: January 2011 - December 2012
Amount: 75,000 €

Title: “Quantitative proteomics approach to elucidate the impairment of mitophagy in a human cellular model of Parkinson's disease” 
Principal Investigator
Agency: Fritz Thyssen Foundation
Type: Research Grant
Funding period: July 2011 - June 2013
Amount: 180,000 €

Title: “New insights into the genetics and molecular pathways of XDP”
Principal Investigator 
Agency: Bachmann Strauss Dystonia & Parkinson Foundation
Type: Research Grant
Funding period: January 2012-December 2012
Amount: 65,000 US$

Title: “Understanding molecular mechanisms leading to X-linked dystonia-parkinsonism: Insights from an induced pluripotent stem cell-derived neuronal model
Principal Investigator
Agency: Fritz Thyssen Foundation
Type: Research Grant
Funding period: February 2014-January 2016
Amount: 100,000 €

Title: “Multidisciplinary X-linked Dystonia-Parkinsonism Workshop
Principal Investigator
Agency: Fritz Thyssen Foundation
Type: Conference Funding
Funding period: May-June 2014
Amount: 9,700 €

Publications

Selection of 5 most important publications out of 48;
cumulative impact factor: 309.3; mean 6.6

  1. Djarmati A, Seibler P (equally contributed), Langpap B, Hagenah J, Schmidt A, Brüggemann N, Siebner H, Jabusch H-C, Altenmüller E, Münchau A, Lohmann K, Klein C. Heteroyzgous nonsense mutation in the PRKRA (DYT16) gene associated with generalized dystonia. Lancet Neurol 2008;7:380-381.

  2. Djarmati A, Schneider SA (equally contributed), Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009;8:447-452.

  3. Scaglione KM, Zavodszky E, Todi SV, Patury S, Xu P, Rodríguez-Lebrón E, Fischer S, Konen J, Djarmati A, Peng J, Gestwicki JE, Paulson HL. Ube2w and Ataxin-3 Coordinately Regulate the Ubiquitin Ligase CHIP. Mol Cell 2011;43:599-612.

  4. Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Lohmann K, Klein C, Westenberger A. Mortalin mutations are not a frequent cause of early-onset Parkinson disease. Neurobiol Aging 2013,;34:2694.e19-20.

  5. Westenberger A, Keller A, Sobrido MJ (equally contributed), García-Murias M, Domingo A, Sears R, Lemos RR, Ordoñez-Ugalde A, Nicolas G, Gomes da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe M, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson M, Saliminejad K, Khorshid K, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind D, Coppola G, Betsholtz C, Klein C, Oliveira JRM. PDGFB mutations cause brain calcifications in humans and mice. Nat Genet 2013;45:1077-1082.

Complete list of publications
  1. Svetel M, Djarmati A, Dragasevic N, Savic D, Culjkovic B, Romac S, Kostic VS. SCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism. Eur J Neurol 2003;10:597.

  2. Alendar A, Culjkovic B, Savic D, Djarmati A, Keckarevic M, Ristic A, Dragasevic N, Kostic V, Romac S. Spinocerebellar ataxia type 17 in Yugoslav population. Acta Neurol Scand 2004;109:185-187.

  3. Djarmati A, Hedrich K (equally contributed), Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang EA, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C. DJ-1 mutations are less frequent than Parkin mutations in early-onset Parkinson’s disease. Neurology 2004;62:389-394.

  4. Djarmati A, Hedrich K, Svetel M, Schäfer N, Juric V, Vukosavic S, Hering R, Riess O, Romac S, Klein C, Kostic V. Frequency of Parkin and DJ-1 mutations depends on ethnic origin of Parkinson’s disease patients. Hum Mutat 2004;23:525.

  5. Djarmati A, Klein C (equally contributed), Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 2005;13:1086-1093.

  6. Djarmati A, Svetel M, Momčilović D, Kostić V, Klein C. Significance of Recurrent Mutations in the Myofibrillogenesis Regulator 1 Gene. Arch Neurol 2005;62:1641.

  7. Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C. Co-occurrence of restless legs syndrome and Parkin mutations in two families. Mov Disord 2006; 21:258-263.

  8. Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi-Rad S, St Geroge-Hyslop P, Klein C, Lang A. Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson’s disease patients. Mov Disord 2006;21:875-879.

  9. Hedrich K, Hagenah J (equally contributed), Djarmati A, Hiller A, Lohnau T, Lasek K, Grünewald A, Hilker R, Steinlechner S, Boston H, Kock N, Schneider-Gold C, Kress W, Siebner H, Binkofski F, Lencer R, Münchau A, Klein C. Clinical spectrum of homo- and heterozygous PINK1 mutations in a large German family with Parkinson´s disease: Role of a single hit? Arch Neurol 2006;63:833-838.

  10. Djarmati A, Hedrich A, Svetel M, Lohnau T, Schwinger E, Romac S, Pramstaller PP, Kostić V, Klein C. Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease? Mov Disord 2006;21:1526-1530.

  11. Stefanova E, Djarmati A, Momcilovic D, Dragasevic N, Svetel M, Klein C, Kostic VS. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. Mov Disord 2006;21:2010-2015.

  12. Kostic VS, Svetel M, Kabakci K, Ristic A, Petrovic I, Schule B, Kock N, Djarmati A, Romac S, Klein C. Intrafamilial phenotypic and genetic heterogeneity of dystonia. J Neurol Sci 2006;250:92-96.

  13. Hiller A, Hagenah JM, Djarmati A, Hedrich K, Reetz K, Schneider-Gold C, Kress W, Munchau A, Klein C. Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. Mov Disord 2007;22:145-147. 

  14. Steinlechner S, Stahlberg J, Volkel B, Djarmati A, Hagenah J, Hiller A, Hedrich K, Konig I, Klein C, Lencer R. Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations. J Neurol Neurosurg Psychiatry 2007;78:532-535. 

  15. Djarmati A, Gužvić M (equally contributed), Grünewald A, Lang AE, Pramstaller PP, Simon DK, Kaindl AM, Vieregge P, Nygren AOH, Beetz C, Lohmann-Hedrich K, Klein C. Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Mov Disord 2007;22:1708-1714.

  16. Djarmati A, Dobričić V (equally contributed), Stevanović M, Marsh P, Savić D, Jančić-Stefanović, Klein C, Djurić M, Romac S. MECP2 Mutations in Rett Syndrome Patients from Serbia and Montenegro. Acta Neurol Scand 2007;116:413-419. 

  17. Orth M, Djarmati A, Bäumer T, Winkler S, Grünewald A, Lohmann-Hedrich K, Kabakci K, Hagenah J, Klein C, Münchau A. Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. Mov Disord 2007;22:2090-2096. 

  18. Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O'Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C. Myoclonus-dystonia: significance of large SGCE deletions. Hum Mutat 2008;29:331-332.

  19. Lohmann-Hedrich K, Neumann A, Hädicke O, Lohnau T, Muhle H, Djarmati A, König IR, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C. A second gene locus for restless legs syndrome on chromosome 9p? Neurology 2008;70:686-694.

  20. Djarmati A, Seibler P (equally contributed), Langpap B, Hagenah J, Schmidt A, Brüggemann N, Siebner H, Jabusch H-C, Altenmüller E, Münchau A, Lohmann K, Klein C. Heteroyzgous nonsense mutation in the PRKRA (DYT16) gene associated with generalized dystonia. Lancet Neurol 2008;7:380-381.

  21. Reetz K, Lencer R, Steinlechner S, Gaser C, Hagenah J, Büchel C, Petersen D, Kock N, Djarmati A, Siebner HR, Klein C, Binkofski F. Limbic and Frontal Cortical Degeneration Is Associated with Psychiatric Symptoms in PINK1 Mutation Carriers. Biol Psychiatry 2008;64:241-247.

  22. Hagenah JM, Becker B, Brüggemann N, Djarmati A, Lohmann K, Sprenger A, Klein C, Seidel G. Transcranial sonography findings in a large family with homo- and heterozygous PINK1 mutations. J Neurol Neurosurg Psychiatry 2008;79:1071-1074.

  23. Moro E, Volkmann J, König IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohman K, Pinsker MO, Voges J, Djarmati A, Seibler P, Lozano AM, Rogaeva E, Lang AE, Deuschl G, Klein C. Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. Neurology 2008;70:1186-1191.

  24. Marras C, Klein C, Lang AE, Wakutani Y, Moreno D, Sato C, Yip E, Munhoz RP, Lohmann K, Djarmati A, Bi A, Rogaeva E. LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation. Neurobiol Aging 2010;31:721-722.

  25. Brüggemann N, Odin P, Grünewald A, Tadic V, Hagenah J, Seidel G, Lohmann K, Klein C, Djarmati A. De novo alpha-Synuclein duplication as cause of sporadic early onset parkinsonism. Neurology 2008;71:1294.

  26. Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A. Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease. Mov Disord 2009;24:429-433.

  27. Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K, Winkler S, Pawlack H, Lohnau T, Pramstaller PP, Klein C, Lohmann K. Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers. Parkinsonism Relat Disord 2009;15:425-429.

  28. Djarmati A, Schneider SA (equally contributed), Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009;8:447-452.

  29. Djarmati A, Hagenah H (equally contributed), Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C. ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord 2009;24:2104-2111.

  30. Evangelou E, Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A, Ferrarese C, Hadjigeorgiou GM, Krueger R, Lambert JC, Lesage S, Markopoulou K, Mellick GD, Meeus B, Pedersen NL, Quattrone A, Van Broeckhoven C, Sharma M, Silburn PA, Tan EK, Wirdefeldt K, Ioannidis JP; for the Genetic Epidemiology of Parkinson's Disease (GEOPD) Consortium Australia: Sutherland GT, Siebert GA. Belgium: Theuns J, Crosiers D, Pickut B, Pals P, Engelborghs S, Nuytemans K, De Deyn PP, Cras P. France: From the French Parkinson's Disease Genetics Study Group: Agid Y, Bonnet A‐M, Borg M, Brice A, Broussolle E, Damier P, Destée A, Dürr A, Durif F, Lesage S, Lohmann E, Pollak P, Rascol O, Tison F, Tranchant C, Viallet F, Vidailhet M. Also, Tzourio C, Amouyel P, Loriot MA. Germany: Prof. Gasser T, Riess O, Berg D, Schulte C. Also, Klein C, Djarmati A, Lohmann K. Greece: Xiromerisiou G, Dardiotis E, Kountra P. Japan: Hattori N, Tomiyama H, Funayama M, Yoshino H, Li Y. Italy: Valente EM, Ferraris A, Bentivoglio AR, Ialongo T, Riva C, Corradi B. Poland: Opala G, Jasinska‐Myga B, Klodowska‐Duda G, Boczarska‐Jedynak M. Sweden: Belin AC, Olson L, Galter D, Westerlund M, Sydow O. Also Nilsson C, Puschmann A. USA: Maraganore DM, Ahlskog JE, de Andrade M, Lesnick TG, Rocca WA. Also, Checkoway H. Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: Large-scale collaborative study. Am J Med Genet B Neuropsychiatr Genet 2010;153B:220-228.

  31. Djarmati A, Weissbach A (equally contributed), Klein C, Dragašević N, Zühlke C, Raković A, Gužvić M, Butz E, Tönnies H, Siebert R, Petrović I, Svetel M, Kostić VS, Lohmann K. Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15. Mov Disord 2010;25:1577-1582.

  32. Brüggemann N, Hagenah J, Reetz K, Schmidt A, Kasten M, Buchmann I, Eckerle S, Bähre M, Münchau A, Djarmati A, van der Vegt J, Siebner H, Binkofski F, Ramirez A, Behrens MI, Klein C. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Arch Neurol 2010;67:1357-1363.

  33. Krüger R, Sharma M, Riess O, Gasser T, van Broeckhoven C, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinka-Myga B, Klein C, Lesage S, Lin Juei-Jueng, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Theuns J, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM. A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging 2011;32:548.e9-548.e18.

  34. Durcan TM, Kontogiannea M, Thorarinsdottir T, Fallon L, Williams AJ, Djarmati A, Fantaneanu T, Paulson HL, Fon EA. The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability. Hum Mol Genet 2011;20:141-154.

  35. Klein C, Djarmati A. Parkinson disease: genetic testing in Parkinson disease-who should be assessed? Nat Rev Neurol 2011;7:7-9.

  36. Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Van Broeckhoven C, Chartier-Harlin MC, Destée A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert JC, Lang AE, Mellick GD, Nigris FD, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Krüger R; Genetic Epidemiology of Parkinson's Disease Consortium. Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease. Neurobiol Aging 2011;32:2108.

  37. Scaglione KM, Zavodszky E, Todi SV, Patury S, Xu P, Rodríguez-Lebrón E, Fischer S, Konen J, Djarmati A, Peng J, Gestwicki JE, Paulson HL. Ube2w and Ataxin-3 Coordinately Regulate the Ubiquitin Ligase CHIP. Mol Cell 2011;43:599-612.

  38. Heinitz S, Klein C, Djarmati A. The p.S77N Presenilin-Associated Rhomboid-Like protein mutation is not a frequent cause of early-onset Parkinson’s disease. Mov Disord 2011;26:2441-2442.

  39. Djarmati-Westenberger A, Brueggemann N, Espay AJ, Bhatia KP, Klein C. Re: A novel DCC mutation and genetic heterogeneity in congenital mirror movements. Neurology 2011;77:1580.

  40. Kumar KR, Djarmati-Westenberger A, Grünewald A. Genetics of Parkinson's disease. Semin Neurol 2011;31:433-440.

  41. Klein C, Westenberger A. Genetics of Parkinson's disease. Cold Spring Harb Perspect Med 2012;2(1):a008888.

  42. Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Van Broeckhoven C, Bertram L, Bozi M, Crosiers D, Clarke C, Djarmati A, Facheris M, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon B, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEO-PD Consortium. Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 2012; 79:659-667. 

  43. Klein C, Westenberger A. Genetics of Parkinson's disease. Cold Spring Harb Perspect Med 2012; 2(1):a008888.

  44. Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter W, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, and Klein C. Genetic cause of X-linked dystonia-parkinsonism (DYT3) in a female patient. Mov Disord 2013;28:675-8. 

  45. Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J,  and Bhatia KP. Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Curr Neuropharmacol 2013; 11:59-79.

  46. Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Lohmann K, Klein C, Westenberger A. Mortalin mutations are not a frequent cause of early-onset Parkinson disease. Neurobiol Aging 2013, in press.

  47. Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol 2013, in press. (IF: ??? 2012? 2011: 7.58)

  48. Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears R, Lemos RR, Ordoñez-Ugalde A, Nicolas G, Gomes da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe M, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson M, Saliminejad K, Khorshid HRK, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind D, Coppola G, Betsholtz C, Klein C, Oliveira JRM. PDGFB mutations cause brain calcifications in humans and mice. Nat Genet (in press) (IF: 35.209)

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