Name: Ana Westenberger, nee Djarmati

Position/Title: Research group leader at the Institute of Neurogenetics

Address: Institute of Neurogenetics and Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck
Ratzeburger Allee 160, 23538 Lübeck, Germany

Phone: +49-451-3101 8208; Fax: +49-451-3101 8204

1996 – 2001: Basic Studies at the Faculty of Biology, University of Belgrade, Serbia

2002 – 2003: Master studies at the Faculty of Biology, University of Belgrade, Serbia

2003 – 2006: Doctoral studies at the Faculty of Biology, University of Belgrade, Serbia

2006 – 2009: Postdoctoral fellow, Clinical and Molecular Neurogenetics group, Department of Neurology, University of Lübeck, Germany

2009-2010: Postdoctoral fellow, Henry L. Paulson Laboratory, Department of Neurology, University of Michigan, USA

2011-present: Research group leader at the Institute of Neurogenetics

2016: Habilitation (Neurogenetics; “Genetic factors causing dystonia”)

2004 – 2005: Graduate student fellowship from the Gottlieb Daimler- und Karl Benz-Stiftung

2006: International Research Fellowship awarded by the German Research Foundation (DFG) for postgraduate research at the University of Lübeck, Germany

2008: The Stiftung Felgenhauer from the German Neurological Society (DGN) for sponsoring young neuroscientists

2009: The DAVID MARSDEN AWARD 2009 from the Dystonia Europe Foundation

2009 – 2010: Research Fellowship for a research stay in the USA awarded by the German Research Foundation (DFG).

07/08 – 06/09: Research Grant awarded by the German Research Foundation (DFG) (grant #DJ 65/3-1). Subject: “Role of the PRKRA (DYT16) gene in different forms of dystonia”

01/11 – 12/12: Habilitation Fellowship for women researchers “Habilitationsförderung fur Wissenschaftlerinnen” – Intramural funding from University of Lübeck, Germany. Subject: “Parkin and its E3 ubiquitin ligase activity in the mitochondrial clearance pathway”

07/11 – 06/13: Research Grant awarded by the Fritz Thyssen Foundation. Subject: “Quantitative proteomics approach to elucidate the impairment of mitophagy in a human cellular model of Parkinson's disease”

01/12 – 12/12: Research Grant awarded by the Bachmann-Strauss Dystonia & Parkinson Foundation. Subject: “New insights into the genetics and molecular pathways of XDP”

02/14 – 01/17: Research Grant awarded by the Fritz Thyssen Foundation. Subject: “Understanding molecular mechanisms leading to X-linked dystonia-parkinsonism: Insights from an induced pluripotent stem cell-derived neuronal model”

05/14: Funding of an International conference (Multidisciplinary X-linked Dystonia-parkinsonism (XDP) Workshop, Lübeck, Germany, June 13-15, 2014) by the Fritz Thyssen Foundation

01/16 – 12/17: Research Grant awarded by the German Research Foundation (DFG). Subject: “Genetic modifiers of disease expression in X-linked dystonia-parkinsonism”

12/16 – 12/19: The German Research Foundation (DFG) Research Unit (Co-PI). Subject “Reduced penetrance of hereditary movement disorders”



  • Annals of Neurology
  • Annals of Clinical and Translational Neurology
  • European Journal of Human Genetics
  • Experimental Cell Research
  • Journal of Clinical Movement Disorders
  • Journal of Molecular Neuroscience
  • Journal of Neurology Neurosurgery and Psychiatry
  • Movement Disorders
  • Movement Disorders Clinical Practice
  • Neuroscience Letters
  • Neurodegenerative Disorders
  • Neurobiology of Aging


  • Parkinson's UK (London UK)
  • University of Lübeck
  • Completed PhD theses: n=2
  • Completed MD theses: n=1


2011 – 2012: “Molecular Neurobiomedicine”, a part of the “Molecular Life Science” program (Master of Science studies) at the University of Lübeck, Germany

2010 – present: “Neurogenetics: From gene, over cell, to disease”, a part of the “Molecular Life Science” program (Master of Science studies) at the University of Lübeck, Germany

2013 – present: “Neurosciences 2”, a part of the “Molecular Life Science” program (Master of Science studies) at the University of Lübeck, Germany

Invited talks

  1. Westenberger A. Genetic basis of Rett Syndrome. 3rd Symposium of Developmental Neurology and Psychiatry, Belgrade, Serbia, April 2004
  2. Westenberger A. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. European Federation of Neurological Societies (EFNS) 13th Congress (European Basal Ganglia Club Special Session), Florence, Italy. September 2009.
  3. Westenberger A. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. European Dystonia Federation's (EDF) annual General Assembly, Brussels, Belgium, October 2009.
  4. Westenberger A. Genetics of Dystonia. Dystonias and dystonic syndromes symposium, Olomouc, Czech Republic. December 2011
  5. Westenberger A. Review of Genetics of XDP. Multidisciplinary X-linked Dystonia-parkinsonism (XDP) Workshop, Luebeck, Germany, June 2014.
  6. Westenberger A. Genetics of Spinocerebellar Ataxias (SCAs). X/XVI Congress of Neurologists of Serbia, Novi Sad, Serbia, October 2015
  7. Westenberger A. Spectrum of Genetic Mutations Causing Primary Familial Brain Calcifications and Their Penetrance. 20th International of Parkinson's Disease and Movement Disorders in Congress, June 19-23, 2016, in Berlin, Germany, June 2016.
  8. Westenberger A. Monogenic Hyperkinetic Disorders with Variable Phenotypes. 23rd International of Parkinson's Disease and Movement Disorders in Congress, September 22-26, 2019, in Nice, France, September 2019.
  1. Zea Vera A, Bruce A, Larsh TR, Jordan Z, Brüggemann N, Westenberger A, Espay AJ, Gilbert DL, Wu SW. Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders. Movement Disorders Clinical Practice 2023;2:316-322.
  2. Westenberger A, Ruiz-Herrera A, Bozdoğan S, Bisgin A, Almuqbil M, Alhashem A, Alanzi T, Romito A, Rolfs A, Dias P, Gouveia Silva R, Bertoli-Avella AM, Bauer P, Beetz C. Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions. Movement Disorders : official Journal of The Movement Disorder Society 2023;3:502-504.
  3. Alawbathani S, Khan S, Westenberger A, Beetz C, Lingappa L. A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family. Clinical Genetics 2022;5:609-611.
  4. Algodon SM, Fischer T, Rosales R, Jamora RD, Diesta CC, Saranza G, Brüggemann N, Klein C, Westenberger A. Low Frequency of p.S510G in PIAS1 Challenges its Relevance for Modifying Repeat Expansion Disorders. Movement Disorders : official Journal of The Movement Disorder Society 2022;10:2168-2169.
  5. Pozojevic J, Algodon SM, Cruz JN, Trinh J, Brüggemann N, Laß J, Grütz K, Schaake S, Tse R, Yumiceba V, Kruse N, Schulz K, Sreenivasan VKA, Rosales RL, Jamora RDG, Diesta CCE, Matschke J, Glatzel M, Seibler P, Händler K, Rakovic A, Kirchner H, Spielmann M, Kaiser FJ, Klein C, Westenberger A. Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon. International Journal of Molecular Sciences 2022;4
  6. Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J. Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing. Genes 2022;1
  7. de Leon MAJ, Rosales RL, Klein C, Westenberger A. A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report. Bmc Neurology 2022;1:11.
  8. Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities. Clinical Genetics 2021;2:247-254.
  9. Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A. Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review. Movement Disorders : official Journal of The Movement Disorder Society 2021;11:2468-2480.
  10. Reyes CJ, Laabs BH, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, König IR, Brüggemann N, Klein C, Dobricic V, Westenberger A, Trinh J. Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing. Neurology. Genetics 2021;4:e608.
  11. Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nature Communications 2021;1:3216.
  12. Rosales RL, Westenberger A. Untwisting dystonia: stepping-up genetics, shifting pathophysiology, and strategizing care. Journal of Neural Transmission (vienna, Austria : 1996) 2021;4:393-394.
  13. Pozojevic J, Beetz C, Westenberger A. The importance of genetic testing for dystonia patients and translational research. Journal of Neural Transmission (vienna, Austria : 1996) 2021;4:473-481.
  14. Jamora RDG, Suratos CTR, Bautista JEC, Ramiro GMI, Westenberger A, Klein C, Ledesma LK. Neurocognitive profile of patients with X-linked dystonia-parkinsonism. Journal of Neural Transmission (vienna, Austria : 1996) 2021;5:671-678.
  15. Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. Movement Disorders : official Journal of The Movement Disorder Society 2021;5:1086-1103.
  16. Cullufi P, Tabaku M, Velmishi V, Gjikopulli A, Tomori S, Dervishi E, Tako A, Leubauer A, Westenberger A, Cozma C, Beetz C, Bauer P, Wirth S, Rolfs A. Genetic characterization of the Albanian Gaucher disease patient population. Jimd Reports 2021;1:52-57.
  17. Beetz C, Westenberger A, Al-Ali R, Ameziane N, Alhashmi N, Boustany RM, Al Mutairi F, Alfadhel M, Al-Hassnan Z, AlSayed M, Kandaswamy KK, Paknia O, Skrahina V, Rolfs A, Bauer P. LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact. Movement Disorders : official Journal of The Movement Disorder Society 2021;4:1029-1031.
  18. Abbasi-Moheb L, Westenberger A, Alotaibi M, Alghamdi MA, Hertecant JL, Ariamand A, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P. Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. Clinical Genetics 2020;4:513-518.
  19. Skrahina V, Gaber H, Vollstedt EJ, Förster TM, Usnich T, Curado F, Brüggemann N, Paul J, Bogdanovic X, Zülbahar S, Olmedillas M, Skobalj S, Ameziane N, Bauer P, Csoti I, Koleva-Alazeh N, Grittner U, Westenberger A, Kasten M, Beetz C, Klein C, Rolfs A, ROPAD Study Group. The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings. Movement Disorders : official Journal of The Movement Disorder Society 2020;4:1005-1010.
  20. Santos-García D, Pozojevic J, de Deus Fonticoba T, Kurtis M, Gamez J, Klein C, Monje MHG, Westenberger A. First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation. Movement Disorders : official Journal of The Movement Disorder Society 2020;2:523-525.
  21. Usnich T, Westenberger A. LRRK2 Loss-of-Function Variants: When Less Is More. Movement Disorders : official Journal of The Movement Disorder Society 2020;10:1754.
  22. Pauly MG, Ruiz López M, Westenberger A, Saranza G, Brüggemann N, Weissbach A, Rosales RL, Diesta CC, Jamora RDG, Reyes CJ, Madoev H, Petkovic S, Ozelius LJ, Klein C, Domingo A. Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example. Movement Disorders : official Journal of The Movement Disorder Society 2020;11:1933-1938.
  23. Krause C, Schaake S, Grütz K, Sievert H, Reyes CJ, König IR, Laabs BH, Jamora RD, Rosales RL, Diesta CCE, Pozojevic J, Gemoll T, Westenberger A, Kaiser FJ, Klein C, Kirchner H. DNA Methylation as a Potential Molecular Mechanism in X-linked Dystonia-Parkinsonism. Movement Disorders : official Journal of The Movement Disorder Society 2020;12:2220-2229.
  24. Alvarez-Fischer D, Vernik T, Vulinovic F, Herrmann A, Westenberger A, Klein C. Transgenerational transduction of MPTP-induced alterations in a Parkinson's disease mouse model. Parkinsonism & Related Disorders 2020:88-90.
  25. Balck A, Borsche M, Grütz K, Brüggemann N, Westenberger A, Klein C, Alvarez-Fischer D. Don't do harm by diagnosis – An abnormal cranial CT: Still fa(h)r from a disease. Parkinsonism & Related Disorders 2020:116-118.
  26. Saranza G, Grütz K, Klein C, Westenberger A, Lang AE. Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia. Brain : A Journal of Neurology 2020;5:e36.
  27. Westenberger A, Klein C. Essential phenotypes of NOTCH2NLC-related repeat expansion disorder. Brain : A Journal of Neurology 2019;1:5-8.
  28. Al-Kindi A, Al-Shehhi M, Westenberger A, Beetz C, Scott P, Brandau O, Abbasi-Moheb L, Yüksel Z, Bauer P, Rolfs A, Grüning NM. A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients. Journal of Human Genetics 2019;2:193-197.
  29. Schiemenz C, Westenberger A, Tanzer K, Grütz K, Borsche M, Mahlke G, Schaake S, Rakovic A, Aherrahrou Z, Erdmann J, Klein C, Alvarez-Fischer D. Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification. Brain 2019;1:e1.
  30. Westenberger A, Balck A, Klein C. Primary familial brain calcifications: genetic and clinical update. Curr Opin Neurol 2019;4:571-578.
  31. Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C. A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. Ann Neurol 2019;6:812-822.
  32. Alvarez-Fischer D, Westenberger A. Biallelic MYORG mutations: Primary familial brain calcification goes recessive. Mov Disord 2019;3:322.
  33. Penamora-Destriza JM, Domingo A, Schmidt TGPM, Westenberger A, Klein C, Rosales R. First Report of a Filipino with Mohr-Tranebjaerg Syndrome. Mov Disord Clin Pract 2018;4:417-419.
  34. Seibler P, Burbulla LF, Dulovic M, Zittel S, Heine J, Schmidt T, Rudolph F, Westenberger A, Rakovic A, Münchau A, Krainc D, Klein C. Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. Brain 2018;10:3052-3064.
  35. Reyes CJ, Westenberger A. An integrated OMICS approach unravels the elusive genetic cause of X-linked dystonia-parkinsonism. Mov Disord 2018;7:1095.
  36. Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. Mov Disord 2018;7:1108-1118.
  37. Blumkin L, Lerman-Sagie T, Westenberger A, Ben-Pazi H, Zerem A, Yosovich K, Lev D. Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach. Neuropediatrics 2018;4:246-255.
  38. Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C. Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review. Mov Disord 2018;5:730-741.
  39. Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A. WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype. Neurol Genet 2018;2:e227.
  40. Dobričić V, Tomić A, Branković V, Kresojević N, Janković M, Westenberger A, Rašić VM, Klein C, Novaković I, Svetel M, Kostić VS. GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia. Parkinsonism Relat Disord 2017:81-84.
  41. Tunc S, Brüggemann N, Baaske MK, Hartmann C, Grütz K, Westenberger A, Klein C, Münchau A, Bäumer T. Facial twitches in ADCY5-associated disease – Myokymia or myoclonus? An electromyography study. Parkinsonism Relat Disord 2017:73-75.
  42. Grütz K, Seibler P, Weissbach A, Lohmann K, Carlisle FA, Blake DJ, Westenberger A, Klein C, Grünewald A. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia. Sci Rep 2017:41156.
  43. Walter U, Rosales R, Rocco A, Westenberger A, Domingo A, Go CL, Brüggemann N, Klein C, Lee LV, Dressler D. Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. Parkinsonism Relat Disord 2017:43-49.
  44. Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. Hum Mol Genet 2017;6:1078-1086.
  45. Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. J Pediatr 2016:306-308.e1.
  46. Fung VS, Chang FC, Westenberger A, Klein C. Reply letter to “ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity”. Mov Disord 2016;2:306.
  47. Mišković ND, Domingo A, Dobričić V, Max C, Braenne I, Petrović I, Grütz K, Pawlack H, Tournev I, Kalaydjieva L, Svetel M, Lohmann K, Kostić VS, Westenberger A. Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. Mov Disord 2016;12:1929-1931.
  48. Grütz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A. Primary familial brain calcification in the ‘IBGC2' kindred: All linkage roads lead to SLC20A2. Mov Disord 2016;12:1901-1904.
  49. Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS. Phenotypic insights into ADCY5-associated disease. Mov Disord 2016;7:1033-1040.
  50. Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A. Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism. Cell Mol Life Sci 2016;16:3205-3215.
  51. Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K. RAB39B mutations are a rare finding in Parkinson disease patients. Parkinsonism Relat Disord 2016:116-117.
  52. Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 2015;Pt 12:3476-3495.
  53. Dobričić V, Kresojević N, Žarković M, Tomić A, Marjanović A, Westenberger A, Cvetković D, Svetel M, Novaković I, Kostić VS. Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited. Parkinsonism Relat Disord 2015;10:1256-1259.
  54. Westenberger A, Klein C. A new gene for primary familial brain calcification: The importance of phosphate homeostasis. Mov Disord 2015;9:1213.
  55. Weissbach A, Bäumer T, Rosales R, Lee LV, Brüggemann N, Domingo A, Westenberger A, Jamora RD, Diesta CC, Brandt V, Tadic V, Zittel S, Klein C, Münchau A. Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. Mov Disord 2015;6:873-875.
  56. Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M. Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA Neurol 2015;4:460-467.
  57. Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-Dela Paz EM, Freimann K, Schmidt TG, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C. New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). Eur J Hum Genet 2015;10:1334-1340.
  58. Ziegan J, Wittstock M, Westenberger A, Dobričić V, Wolters A, Benecke R, Klein C, Kamm C. Novel GNAL mutations in two German patients with sporadic dystonia. Mov Disord 2014;14:1833-1834.
  59. Domingo A, Schmidt TG, Barcelon E, Lukban M, Westenberger A, Klein C. X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration. J Neurol 2014;11:2225-2227.
  60. Westenberger A, Klein C. The genetics of primary familial brain calcifications. Curr Neurol Neurosci Rep 2014;10:490.
  61. Domingo A, Lee LV, Brüggemann N, Freimann K, Kaiser FJ, Jamora RD, Rosales RL, Klein C, Westenberger A. Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women? JAMA Neurol 2014;9:1177-1180.
  62. Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, Dale RC, Sklower Brooks S, Dziezyc K, Pollak P, Golmard JL, Vidailhet M, Brice A, Roze E. Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. Neurology 2014;22:1999-2002.
  63. Dobričić V, Kresojević N, Westenberger A, Svetel M, Tomić A, Ralić V, Petrović I, Lukić MJ, Lohmann K, Novaković I, Klein C, Kostić VS. De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. Mov Disord 2014;9:1190-1193.
  64. 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 2014;4:490-494.
  65. Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P, Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch HC, Kaji R, Kasten M, Kawakami H, Kostic VS, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K, Svetel M, Tijssen MA, Valente EM, Westenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler A, Klein C. Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? Mov Disord 2013;7:921-927.
  66. Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, 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 MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 2013;9:1077-1082.
  67. Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Hagenah J, Lohmann K, Klein C, Westenberger A. Mortalin mutations are not a frequent cause of early-onset Parkinson disease. Neurobiol Aging 2013;11:2694.e19-20.
  68. Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP. Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Curr Neuropharmacol 2013;1:59-79.
  69. Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C. X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. Mov Disord 2013;5:675-678.
  70. Klein C, Westenberger A. Genetics of Parkinson's disease. Cold Spring Harb Perspect Med 2012;1:a008888.
  71. 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;13:2441-2442.
  72. 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;4:599-612.
  73. 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, De Nigris F, 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;11:2108.e1-5.
  74. Klein C, Djarmati A. Parkinson disease: genetic testing in Parkinson disease-who should be assessed? Nat Rev Neurol 2011;1:7-9.
  75. 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;11:1357-1363.
  76. 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 2010;1:141-154.
  77. Weissbach A, Djarmati A, Klein C, Dragasević N, Zühlke C, Raković A, Guzvić 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;11:1577-1582.
  78. Krüger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C, Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Klein C, Lambert JC, Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Genetic Epidemiology of Parkinson's disease consortium. A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging 2009;3:548.e9-18.
  79. Djarmati A, Hagenah J, 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;14:2104-2111.
  80. Djarmati A, Schneider SA, 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;5:447-452.
  81. 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;6:425-429.
  82. 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 2008;3:429-433.
  83. 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 2008;4:721-722.
  84. Seibler P, Djarmati A, Langpap B, Hagenah J, Schmidt A, Brüggemann N, Siebner H, Jabusch HC, Altenmüller E, Münchau A, Lohmann K, Klein C. A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol 2008;5:380-381.
  85. 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;3:241-247.
  86. 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;14:2090-2096.
  87. Djarmati A, Guzvić M, Grünewald A, Lang AE, Pramstaller PP, Simon DK, Kaindl AM, Vieregge P, Nygren AO, Beetz C, 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;12:1708-1714.
  88. Steinlechner S, Stahlberg J, Völkel B, Djarmati A, Hagenah J, Hiller A, Hedrich K, König I, Klein C, Lencer R. Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations. J Neurol Neurosurg Psychiatry 2007;5:532-535.
  89. Kostić VS, Svetel M, Kabakci K, Ristić A, Petrović I, Schüle B, Kock N, Djarmati A, Romac S, Klein C. Intrafamilial phenotypic and genetic heterogeneity of dystonia. J Neurol Sci 2006;1-2:92-96.
  90. Hiller A, Hagenah JM, Djarmati A, Hedrich K, Reetz K, Schneider-Gold C, Kress W, Münchau A, Klein C. Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. Mov Disord 2006;1:145-147.
  91. Stefanova E, Djarmati A, Momcilović D, Dragasević N, Svetel M, Klein C, Kostić VS. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. Mov Disord 2006;11:2010-2015.
  92. Hedrich K, Hagenah J, 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 homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? Arch Neurol 2006;6:833-838.
  93. Djarmati A, Hedrich K, 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;9:1526-1530.
  94. Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi-Rad S, St George-Hyslop P, Klein C, Lang AE. Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients. Mov Disord 2006;6:875-879.
  95. Djarmati A, Svetel M, Momcilovic D, Kostic V, Klein C. Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. Arch Neurol 2005;10:1641.
  96. 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 2005;2:258-263.
  97. Klein C, Djarmati A, 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;9:1086-1093.
  98. Djarmati A, Hedrich K, Svetel M, Schäfer N, Juric V, Vukosavic S, Hering R, Riess O, Romac S, Klein C, Kostic V. Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. Hum Mutat 2004;5:525.