Katja Lohmann, nee Hedrich
Katja Lohmann, nee Hedrich, PhD
Section Head, Vice Head of Institute
Phone number:+49 451 3101 8209

Current Position:

Vice Institute head, Group leader ‘Genetics of Rare Disease’

Research Focus:

Genetic causes of movement disorders, mainly dystonia, Parkinson disease, and restless legs syndrome

Education & Scientific training

Education:

10/1995 – 06/2000
Studies of Biology at the Universities of Dresden and Halle

08/1999 – 05/2000
Diploma thesis; University of Halle, Institute of Human Genetics (Director: Prof. I. Hansmann) in the group Craniofacial developmental disorders (Dr. U. Hehr)
 
Isolierung und molekulargenetische Charakterisierung des humanen SIX2-Gens, einem Mitglied der SIX-Genfamilie des Menschen“ [Idendification and molecular characterization of the human SIX2 gene, a member of the SIX gene family]
 
Master of Science (Dipl.-Biol.)

07/2000 – 07/2003
Doctoral thesis; University of Lübeck, Institute of Human Genetics (Director: Prof. E. Schwinger) and the Department of Neurology (Prof. D. Kömpf) in the group Neurogenetics (Prof. C. Klein)
 
„Molekulare Charakterisierung des Parkin-assoziierten Parkinsonismus und der SGCE-assoziierten Myoklonus-Dystonie“ [Molecular characterization of Parkin-associated parkinsonism and SGCE-associated myoclonus-dystonia]
 
 
PhD (Dr. rer. nat.)

08/2003 – 01/2010
Habilitation thesis; University of Lübeck, Medical Faculty 
„Monogene und komplex-genetische Ursachen beim Parkinson- und Restless-legs-Syndrom“ [Monogenic and complex-genetic causes of Parkinson disease and restless legs syndrome]
Assistant Professor for Human genetics (Priv.-Doz.)

Scientific training:

06/1999 – 06/2000
Institute of Human Genetics (University of Halle), supervised by Dr. U. Hehr
Role of known and novel gene in craniosynostosis syndromes

07/2000 – present
Section of Neurogenetics (University of Lübeck), supervised by Prof. Dr. C. Klein
Genetics of movement disorders

06/2001 – 02/2002
Molecular Neurogenetics Unit (Massachusetts General Hospital and Harvard Medical School, Boston, MA; USA), supervised by Prof. X.O. Breakefield
Impact of different Parkin mutations on the cellular level

10/2005 – 12/2005
Statistical genetics (Oregon Health and Science University, Portland, OR; USA), supervised by Prof. P.L. Kramer
Linkage analysis in families with Restless legs syndrome

05/2012
Institute of Human Genetics (University Medical Centre St. Radboud, Nijmegen, The Netherlands), supervised by Prof. J. Veltman
Applications of exome sequencing
 
02/2015
Assistant Professor (“APL-Professor”) at the University of Lübeck

 

 

Awards & Memberships

Awards:

2001 Scholarship from the Gottlieb-Daimler and Karl-Benz Foundation

2004 Heinrich Dräger Research Award

2005 Scholarship from the Novartis Foundation for Therapeutic Medicine

2005 Travel grant from the Erwin Riesch Foundation

2008 Scholarship for the habilitation by the Medical Faculty of the University of Lübeck

2009 Travel grant from the Movement Disorder Society

2010 Poster award of the German Society of Human Genetics

2011 Poster award at the German Parkinson Congress

2011 Renate Maaß Research Award for Brain Research

2013 David Marsden Award 2013 from the European Dystonia Federation 

Memberships:

American Society of Human Genetics (ASHG)

German Society of Human Genetics (GfH)

German Competence Network on Parkinson’s disease

 
Research Funding

“Molekularbiologische und proteinbiochemische Untersuchungen zur Ätiologie des Parkinson Syndroms mit frühem Beginn“

Co-Principal Investigator (Principal Investigator: Christine Klein, MD)
Agency: German Research Foundation (DFG)
Type: Research Grant
Funding period: 2005
Amount: 30,000 €

Title: “Molecular genetic analysis of dopa-responsive dystonia and penetrance studies”

Co-Principal Investigator (Principal Investigator: Christine Klein, MD)
Agency: Edith-Fröhnert-Foundation
Type: Research Grant
Funding period: January 2005 – December 2007
Amount: 45,000 €

Title: “Identifizierung genetischer Ursachen des “Restless legs”-Syndroms”

Principal Investigator: Katja Lohmann, PD Dr.
Agency: German Research Foundation (DFG)
Type: Research Grant
Funding period: January 2007 – May 2009
Amount: 160,000 €

Title: “Genetic risk factors of musician’s dystonia”

Principal Investigator: Katja Lohmann
Agency: German Research Foundation (DFG)
Type: Research Grant
Funding period: January 2010-December 2011
Amount: 295,000 €

Title: “Molekulare Untersuchung des THAP1-Gens und seine Rolle bei Dystonien”

Principal Investigator: Katja Lohmann
Agency: German Research Foundation (DFG)
Type: Research Grant
Funding period: February 2010-January 2012
Amount: 220,000 €

Title: “Elucidation of the genetic cause of dystonia 4 using exome sequencing”

Co-Principal Investigator (Principal Investigator: Christine Klein, MD)
Agency: Bachmann Strauss Dystonia & Parkinson Foundation
Type: Research Grant
Funding period: January 2011-December 2011
Amount: 35,500 €

Title: “Anwendungen der Exom-Sequenzierung” [Applications of exome sequencing]

Principal Investigator
Agency: Renate Maaß Foundation
Type: Research award
Funding period: 2012
Amount: 5,000 €

Title: “Identification of targets and interactors of the DYT6-related transcription factor THAP1”

Principal Investigator
Agency: German Research Foundation (DFG)
Type: Research Grant
Funding period: July 2012 to June 2015
Amount: 245,000 €

Title: “Unraveling novel genetic cause in alcohol-responsive dystonia by exome sequencing”

Principal Investigator
Agency: Dystonia Coalition (NIH-funded)
Type: Research Grant
Funding period: December 2013 to November 2014
Amount: 38,000 €

Title: “Identification of targets and interactors of the DYT6-related transcription factor THAP1”

Principal Investigator
Agency: German Research Foundation (DFG)
Type: Research Grant
Funding period: July 2012 to June 2015
Amount: 299,000 €

Title: “DsyTRACT - Dystonia Translational Research and Therapy Consortium”

Principal Investigator of the subproject “Elucidation of novel genetic causes for dystonia”
Agency: Ministry of Education and Research (BMBF)
Type: Research Grant
Funding period: February 2016 to January 2019
Amount: 330,000 €

Title: “Protect Move - Reduced penetrance in hereditary movement disorders: Elucidating mechanisms of endogenous disease protection”

Principal Investigator of subproject P4 “Identification of genetic modifiers of the penetrance of THAP1 mutations”
Agency: German Research Foundation (DFG)
Type: Research Unit FOR2488
Funding period: December 2016 to November 2019
Amount: 145,000 €

Publications

Selection of 5 most important publications out of 151;
cumulative impact factor: 778; mean 5.8

  1. Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;16:1649-1656.

  2. Müller B, Hedrich K (shared first author), Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C. Evidence for paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002;71:1303-1311.

  3. Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007;6:652-662.

  4. Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010;68:554-559. 

  5. Lohmann K, Wilcox R, Winkler S, Ramirez A, Rakovic A, Park J, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang A, Münchau A, Kostic V, Simonyan M, Agzarian M, Ozelius LJ, Langeveld APM, Sue CM, Tijssen M, Klein C: Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2013;73: 537–545.

Complete list of publications
  1. Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;16:1649-1656. 

  2. Kann M, Hedrich K, Vieregge P, Jacobs H, Muller B, Kock N, Schwinger E, Klein C, Marder K, Harris J, Meija-Santana H, Bressman S, Ozelius LJ, Lang AE, Pramstaller PP. The parkin gene is not involved in late-onset Parkinson's disease. Neurology 2002;58:835. 

  3. Pramstaller PP, Künig G, Leenders K, Kann M, Hedrich K, Goetz C, Vieregge P, Klein C. Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study. Neurology 2002;58:808-810. 

  4. Hilker R, Klein C, Hedrich K, Ozelius LJ, Vieregge P, Herholz K, Pramstaller PP, Heiss W-D. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002;323:50-54. 

  5. Pramstaller PP, Kis B, Eskelson C, Hedrich K, Scherer M, Schwinger E, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ, Klein C. Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Mov Disord 2002;17:424-426.

  6. Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 2002;51:621-625. 

  7. Hedrich K, Marder K, Harris J., Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C. Evaluation of 50 probands with early-onset Parkinson´s disease for parkin mutations. Neurology 2002;58:1239-1246. 

  8. Kock N, Müller B, Vieregge P, Pramstaller PP, Marder K, Abbuzzese G, Martinelli P, Lang AE, Jacobs H, Hagenah J, Harris J, Meija-Santana H, Fahn S, Hedrich K, Kann M, Gehlken U, Culjkovic B, Schwinger E, Wszolek ZW, Zühlke C, Klein C. Role of SCA-2 mutations in early- and late-onset dopa-responsive parkinsonism. Ann Neurol 2002;52:257-258. 

  9. Pal PK, Leung J, Hedrich K, Samii A, Lieberman A, Nausieda PA, Calne DB, Breakefield XO, Klein C, Stoessl AJ. [18F]-Dopa PET imaging in early stage, non-parkin juvenile parkinsonism. Mov Disord 2002;17:789-794. 

  10. Klein C, Hedrich K, Kabakci K, Mohrmann K, Wiegers K, Landt O, Schwinger E, Pramstaller PP, Ozelius LJ, Gucuyener K, Aysun S, Demir E. Exon deletions in the GCH1 gene in two of four Turkish families with dopa-responsive Dystonia. Neurology 2002;59:1783-1786. 

  11. Müller B, Hedrich K (equaly contributed), Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C. Evidence for paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002;71:1303-1311. 

  12. Wellenbrock C, Hedrich K, Schäfer N, Kasten M, Jacobs H, Schwinger E, Hagenah J, Pramstaller PP, Vieregge P, Klein C. NR4A2 mutations are rare among European patients with familial Parkinson’s disease. Ann Neurol 2003;54:415. 

  13. Klein C, Hedrich K, Wellenbrock C, Kann M, Harris J, Marder K, Lang AE, Schwinger E, Ozelius LJ, Vieregge P, Pramstaller PP, Kramer PL. Frequency of Parkin mutations in late-onset Parkinson’s disease. Ann Neurol 2003;54:415-416. 

  14. Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman SB, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. The R98Q variation in DJ-1 represents a rare polymorphism. Ann Neurol 2004;55:145. 

  15. Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, 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.

  16. Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. Mutations in DYT1: Extension of the phenotypic and mutational spectrum. Neurology 2004;62:395-400.

  17. Kock N, Kasten M, Schüle B, Hedrich K, Wiegers K, Kabakci K, Pramstaller PP, Nitschke MS, Sperner J, Klein C. Clinical and genetic features of myoclonus-dystonia in three cases: a video presentation. Mov Disord 2004;19:231-234. 

  18. Hedrich K, Meyer EM, Schüle B, Kock N, de Carvalho Aguiar P, Wiegers K, Koelman JH, Garrels J, Dürr R, Liu L, Schwinger E, Ozelius LJ, Landwehrmeyer B, Stoessl AJ, Tijssen MAJ, Klein C. Myoclonus-Dystonia: Detection of novel, recurrent, and de novo SGCE mutations. Neurology 2004;62:1229-1231. 

  19. 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 and DJ-1 mutations in early-onset Parkinson’s disease: Parkin mutation frequency depends on ethnic origin of patients. Hum Mutat 2004;23:525.

  20. Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, de Carvalho Aguiar P, Lui L, Kabakci K, Garrels J, Meyer EM, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V. Genetic heterogeneity in ten families with myoclonus-dystonia. J Neurol Neurosurg Psychiatry 2004;75:1181-1185. 

  21. Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Distribution, type, and origin of Parkin mutations: Review and case studies. Mov Disord 2004;19:1146-1157. 

  22. Zühlke CH, Dalski A, Habeck M, Straube K, Hedrich K, Hoeltzenbein M, Konstanzer A, Hellenbroich Y, Schwinger E. Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations. Eur J Hum Genet 2004;12:979-982.

  23. Hagenah J, Saunders-Pullmann R, Hedrich K, Kabakci K, Habermann K, Wiegers K, Mohrmann K, Lohnau T, Raymond D, Vieregge P, Nygaard T, Ozelius LJ, Bressman SB, Klein C. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 2005;64:908-911.

  24. Kabakci K, Isbruch K, Schilling K, Hedrich K, de Carvalho Aguiar P, Ozelius LJ, Kramer PL, Schwarz MH, Klein C. Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. J Neurol Neurosurg Psychiatry 2005;76:860-862. 

  25. Hedrich K, Pramstaller PP, Stübke K, Hiller A, Kabakci K, Purmann S, Kasten M, Scaglione C, Schwinger E, Volkmann J, Kostic V, Vieregge P, Martinelli P, Abbruzzese G, Klein C, Zühlke C. Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson´s disease? Mov Disord 2005,20:1060-1062.

  26. Buhmann C, Binkofski F, Klein C, Büchel C, van Eimeren T, Erdmann C, Hedrich K, Kasten M, Hagenah J, Deuschl G, Pramstaller PP, Siebner HR. Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism. Brain 2005;128:2281-2290. 

  27. Klein C, Djarmati A, Hedrich K, Schafer N, Scaglione C, Marchese R, Kock N, Schule 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.

  28. Pramstaller PP, Schlossmacher MG, Jacques TS, Scaravilli F, Eskelson C, Pepivani I, Hedrich K, Adel S, Gonzales-McNeal M, Hilker R, Kramer PL, Klein C. Lewy body Parkinson disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol 2005;58:411-422.

  29. Kis B, Hedrich K, Kann M, Schwinger E, Kömpf D, Klein C, Pramstaller PP. Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications. Neurology 2005;65:761. 

  30. Van Hove JL, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Moller LB, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry 2006;77:18-23. 

  31. 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.

  32. Gerrits MC, Foncke EM, de Haan R, Hedrich K, van de Leemput YL, Baas F, Ozelius LJ, Speelman JD, Klein C, Tijssen MA. Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. Neurology. 2006;66:759-761. 

  33. Klein C, Grünewald A, Hedrich K. Biologic effect of a PINK1 mutation: mRNA levels of the c.1366C>T (Gln456Stop) change. Neurology 2006;66:1129-1130.

  34. Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K, Grunewald A, Hilker R, Steinlechner S, Boston H, Kock N, Schneider-Gold C, Kress W, Siebner H, Binkofski F, Lencer R, Munchau 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;63:833-838. 

  35. Hagenah JM, Hedrich K, Becker B, Pramstaller PP, Seidel G, Klein C. Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography. Neurology 2006;66:1951-1952.

  36. Schmidt A, Jabusch HC, Altenmuller E, Hagenah J, Bruggemann N, Hedrich K, Saunders-Pullman R, Bressman SB, Kramer PL, Klein C. Dominantly transmitted focal dystonia in families of patients with musician's cramp. Neurology 2006;67:691-693. 

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

  38. Hedrich K, Winkler S, Hagenah J, Kabakci K, Kasten M, Schwinger E, Volkmann J, Pramstaller PP, Kostic V, Vieregge P, Klein C. Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease. Mov Disord 2006;21:1506-1510.

  39. Helmchen C, Schwekendiek A, Pramstaller PP, Hedrich K, Klein C, Rambold H. Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations. J Neurol 2006;253:1071-1075. 

  40. Foncke EM, Gerrits MC, van Ruissen F, Baas F, Hedrich K, Tijssen CC, Klein C, Tijssen MA. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. Neurology 2006;67:1677-1680. 

  41. 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. 

  42. 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;78:532-535. 

  43. Clark LN, Haamer E, Mejia-Santana H, Harris J, Lesage S, Durr A, Bs SJ, Hedrich K, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Scott W, Klein C, Brice A, Roomere H, Ottman R, Marder K. Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. Mov Disord. 2007;22:932-937. 

  44. Binkofski F, Reetz K, Gaser C, Hilker R, Hagenah J, Hedrich K, van Eimeren T, Thiel A, Buchel C, Pramstaller PP, Siebner HR, Klein C. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. Neurology 2007;69:842-850. 

  45. Djarmati A, Guzvic M, Grunewald 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;22:1708-1714.

  46. Hagenah JM, König IR, Becker B, Hilker R, Kasten M, Hedrich K, Pramstaller PP, Klein C, Seidel G. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol 2007;254:1407-1413. 

  47. Grünewald A, Breedveld GJ, Lohmann-Hedrich K, Rohe CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Durr A, Binkofski F, Siebner H, Munchau A, Brice A, Oostra BA, Klein C, Bonifati V. Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. Neurogenetics. 2007;8:103-109. 

  48. Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007;6:652-662. 

  49. Winkler S, König IR, Lohmann-Hedrich K, Vieregge P, Kostic V, Klein C. Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease. Eur J Hum Genet 2007;15:1163-1168. 

  50. 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.

  51. Winkler S, Hagenah J, Lincoln S, Heckman M, Haugarvoll K, Lohmann-Hedrich K, Kostic V, Farrer M, Klein C. α-synuclein and Parkinson disease susceptibility. Neurology 2007;69:1745-1750.

  52. 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.

  53. Lohmann-Hedrich K, Neumann A, Kleensang A, Lohnau T, Muhle H, Djarmati A, König IR, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C. Evidence for linkage of restless legs syndrome to chromosome 9p: Are there two distinct loci? Neurology 2008;70:686-694.

  54. Muhle H, Neumann A, Lohmann-Hedrich K, Lohnau T, Lu Y, Winkler S, Waltz S, Fischenbeck A, Kramer PL, Klein C, Stephani U. Childhood-onset restless legs syndrome: clinical and genetic features of 22 families. Mov Disord 2008;23:1113-1121.

  55. Guettard E, Portnoi MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 2008;65:1380-1385.

  56. Moro E, Volkmann J, König IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohmann K, Pinsker MO, Voges J, Djarmatic 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.

  57. 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;7:380-381.

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

  59. Brüggemann N, Odin P, Gruenewald A, Tadic V, Hagenah J, Seidel G, Lohmann K, Klein C, Djarmati A. Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease. Neurology 2008;71:1294.

  60. Zschiedrich K, König IR, Brüggemann N, Kock N, Kasten M, Leenders KL, Kostic V, Vieregge P, Ziegler A, Klein C, Lohmann K. MDR1 variants and risk of Parkinson disease: Association with pesticide exposure? J Neurol 2009;256:115-120.

  61. 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..

  62. van Nuenen BF, Weiss MM, Bloem BR, Reetz K, van Eimeren T, Lohmann K, Hagenah J, Pramstaller PP, Binkofski F, Klein C, Siebner HR. Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype. Neurology 2009;72:1041-1047. 

  63. Schmidt A, Jabusch HC, Altenmüller E, Hagenah J, Brüggemann N, Lohmann K, Enders L, Kramer PL, Saunders-Pullman R, Bressman SB, Münchau A, Klein C. Etiology of musician's dystonia: familial or environmental? Neurology 2009;72:1248-1254.

  64. Brüggemann N, Kock N, Lohmann K (equaly contributed), König IR, Rakovic A, Hagenah J, Schmidt A, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C. The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? Neurology 2009;72:1441-1443.

  65. 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;8:447-452.

  66. 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.

  67. 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;24:2104-2111.

  68. Pichler I, Marroni F, Pattaro C, Lohmann K, de Grandi A, Klein C, Hicks AA, Pramstaller PP. Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS). Am J Med Genet B Neuropsychiatr Genet 2010;153B:350-355.

  69. Svetel M, Ozelius LJ, Buckley A, Lohmann K, Brajković L, Klein C, Kostić VS. Rapid-onset dystonia-parkinsonism: case report. J Neurol 2010;257:472-474. 

  70. 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.

  71. Kasten M, Weichert C, Lohmann K, Klein C. Clinical and demographic characteristics of PINK1 mutation carriers--a meta-analysis. Mov Disord 2010;25:952-954.

  72. Rakovic A, Grünewald A, Seibler P, Ramirez A, Kock N, Orolicki S, Lohmann K, Klein C. Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients. Hum Mol Genet 2010;19:3124-337.

  73. Weissbach A, Djarmati A, 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.

  74. Zittel S, Moll CK, Brüggemann N, Tadic V, Hamel W, Kasten M, Lohmann K, Lohnau T, Winkler S, Gerloff C, Schönweiler R, Hagenah J, Klein C, Münchau A, Schneider SA. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord 2010;25:2405-2412.

  75. Grünewald A, Voges L, Rakovic A, Lohmann K, Orolicki S, Ramirez A, Schapira AHV, Kasten M, Klein C. Parkin mutations affect mitochondrial function, genome integrity and morphology. PLOS ONE 2010;5:e12962.

  76. Kertelge L, Brüggemann N, Schmidt A, Tadic V, Wisse C, Dankert S, Drude L, van der Vegt J, Siebner H, Pawlack H, Pramstaller PP, Behrens MI, Ramirez A, Reichel D, Buhmann C, Hagenah J, Klein C, Lohmann K, Kasten M. Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease. Mov Disord 2010;25:2665-2669.

  77. Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010;68:554-559.

  78. Kasten M, Brüggemann N, König IR, Doerry K, Steinlechner S, Wenzel L, Lohmann K, Klein C, Lencer R. Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility. Psychopharmacology 2011;214:729-736. 

  79. Ramirez A, Ziegler A, Winkler S, Kottwitz J, Giesen R, Díaz-Grez F, Miranda M, Venegas P, Godoy OT, Avello R, Behrens MI, Klein C, Segura-Aguilar J, Lohmann K. Association of Parkinson disease to PARK16 in a Chilean sample. Parkinsonism Relat Disord 2011;17:70-71. 

  80. Rakovic A, Grünewald A, Kottwitz J, Brüggemann N, Pramstaller PP, Lohmann K, Klein C. Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts. PLoS One 2011;6:e16746.

  81. Rakovic A, Grünewald A, Voges L, Hofmann S, Orolicki S, Lohmann K, Klein C. PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1. Parkinsons Dis 2011;2011:153979.

  82. Schneider SA, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, Brüggemann N, Winkler S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K. Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov Disord 2011;26:858-861. 

  83. Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, Vierke G, Gil-Rodríguez C, Münchau A, Albrecht M, Brüggemann N, Gillessen-Kaesbach G, Klein C, Lohmann K, Kaiser FJ. Truncating mutations in THAP1 define the nuclear localization signal. Mov Disord 2011;26:1565-1567.

  84. Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol 2011;69:778-792.

  85. Kamm C, Uflacker N, Asmus F, Schrader C, Wolters A, Wittstock M, Pahnke J, Gasser T, Volkmann J, Münchau A, Hagenah J, Benecke R, Klein C, Lohmann K. No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia. Mov Disord 2011;26:2136-2137. 

  86. Arif B, Grünewald A, Fatima A, Ramirez A, Ali A, Brüggemann N, Würfel J, Rolfs A, Lohmann K, Malik A, Klein C, Naz S. An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech. Mov Disord 2011;26:2279-2283. 

  87. Wilcox R, Winkler S, Lohmann K, Klein C. Whispering Dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal. Mov Disord 2011;26:2404-2408.

  88. Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn A, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N. Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet 2012;20:171-175.

  89. Marras C, Lohmann K, Lang A, Klein C. Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. Neurology 2012;78:1016-1024.

  90. Kasten M, Kertelge L, Tadic V, Brüggemann N, Schmidt A, van der Vegt J, Siebner H, Buhmann C, Lencer R, Kumar KR, Lohmann K, Hagenah J, Klein C. Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease. Mov Disord 2012;27:754-759.

  91. Schmidt A, Altenmüller E, Jabusch HC, Lee A, Wiegers K, Klein C, Lohmann K. The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia. Parkinsonism Relat Disord 2012;18:690-691.

  92. Brüggemann N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tönnies H, Sprenger A, Pramstaller P, Rolfs A, Siebert R, Riess O, Vieregge P, Lohmann K, Klein C. Autosomal dominant Parkinson's disease in a large German pedigree. Acta Neurol Scand 2012;126:129-137. 

  93. Schmidt A, Kumar KR, Redyk K, Grünewald A, Leben M, Münchau A, Sue CM, Hagenah J, Hartmann H, Lohmann K, Christen HJ, Klein C. Two Faces of the Same Coin: Benign Familial Infantile Seizures and Paroxysmal Kinesigenic Dyskinesia Caused by PRRT2 Mutations. Arch Neurol 2012;69:668-670.

  94. Göbel A, Macklin EA, Winkler S, Betensky RA, Klein C, Lohmann K, Simon DK. Genetic risk factors in Parkinson's disease: single gene effects and interactions of genotypes. J Neurol 2012;259:2503-2505.

  95. Klein C, König IR, Lohmann K. Exome sequencing for gene discovery: time to set standard criteria. Ann Neurol 2012;72:627-628.

  96. Weissbach A, Siegesmund K, Brüggemann N, Schmidt A, Kasten M, Pichler I, Muhle H, Lohmann E, Lohnau T, Schwinger E, Hagenah J, Stephani U, Pramstaller PP, Klein C, Lohmann K. Exome sequencing in a family with restless legs syndrome. Mov Disord 2012;27:1686-1689.

  97. Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostić VS, Segura-Aguilar J, Ramirez A, Simon DK, Vieregge P, Münte TF, Hagenah J, Klein C, Lohmann K. Frequency of the D620N Mutation in VPS35 in Parkinson Disease. Arch Neurol 2012, Arch Neurol 2012;69:1360-1364.

  98. Klein C, Lohmann K, Ziegler Z. The Promise of Genome-wide Association Studies: Personalized medicine on the horizon? JAMA 2012;308:1867-1868.

  99. Kumar KR, Ramirez A, Göbel A, Kresojević N, Svetel M, Lohmann K, M Sue C, Rolfs A, Mazzulli JR, Alcalay RN, Krainc D, Klein C, Kostic V, Grünewald A. Glucocerebrosidase mutations in a Serbian Parkinson's disease population. Eur J Neurol 2013;20:402-405.

  100. Lohmann K, Wilcox R, Winkler S, Ramirez A, Rakovic A, Park J, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang A, Münchau A, Kostic V, Simonyan M, Agzarian M, Ozelius LJ, Langeveld APM, Sue CM, Tijssen M, Klein C: Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2013;73: 537–545.

  101. 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;28:675-678.

  102. Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K. A Novel OPA3 Mutation Revealed by Exome Sequencing: An Example of Reverse Phenotyping. JAMA Neurol 2013;70:783-787.

  103. 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;34:2694.e19-20.

  104. 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;45:1077-1082.

  105. Mollenhauer B, Trautmann E, Sixel-Döring F, Wicke T, Ebentheuer J, Schaumburg M, Lang E, Focke NK, Kumar KR, Lohmann K, Klein C, Schlossmacher MG, Kohnen R, Friede T, Trenkwalder C; DeNoPa Study Group. Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort. Neurology 2013;81:1226-1234.

  106. Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging 2014;35:266.e5-266.e14.

  107. Doss S, Lohmann K (gleichberechtigte Erstautorin), Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J Neurol 2014;261:207-212.

  108. Koschmidder E, Mollenhauer B, Kasten M, Klein C, Lohmann K. Mutations in VPS26A are not a frequent cause of Parkinson's disease. Neurobiol Aging 2014;35:1512.e1-2.

  109. Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Epilepsia 2014;55:e25-29.

  110. 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;71:490-494.

  111. Winkler S, Vollstedt E-J, Kasten M, Alvarez-Fischer D, Klein C, Lohmann K. The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson disease. J Neurol 2014;261:833-834.

  112. Lohmann K, Klein C. The many faces of TUBB4A mutations. Neurogenetics 2014;15:81-82.

  113. 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 2014;29:921-927.

  114. 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;29:1190-1193.

  115. Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Weißbach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P. Unraveling Cellular Phenotypes of Novel TOR1A mutations. Hum Mutat 2014;35:1114-1122.

  116. Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, Eckhold J, Lohnau T, Gillessen-Kaesbach G, Grünewald A, Rakovic A, Lohmann K, Kaiser FJ. THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression. Biochim Biophys Acta 2014;1839:1196-1204.

  117. Wilcox R, Brænne I, Brüggemann N, Winkler S, Wiegers K, Bertram L, Anderson T, Lohmann K. Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only. J Neurol 2015;262:187-193.

  118. Huttenlocher J, Krüger R, Capetian P, Lohmann K, Brockmann K, Csoti I, Klein C, Berg D, Gasser T, Bonin M, Riess O, Bauer P. EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. J Med Genet 2015;52:37-41.

  119. Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V, Lozano AM, Hamani C, Poon YY, Zittel S, Wächter T, Deuschl G, Krüger R, Kupsch A, Münchau A, Lohmann K, Volkmann J, Klein C. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology 2015;84:895-903.

  120. Sixel-Döring F, Lohmann K (gleichberechtigte Erstautorin), Klein C, Trenkwalder C, Mollenhauer B. REM sleep-associated motor behaviors in Parkinson's disease patients with heterozygous Parkin mutations. Mov Disord 2015;30:597-598.

  121. Nibbeling E, Schaake S, Tijssen MA, Weissbach A, Groen JL, Altenmüller E, Verbeek DS, Lohmann K. Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia. J Neurol 2015;262:1340-1343. 

  122. 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 2015,23:1334-1340.

  123. Krause P, Brüggemann N, Völzmann S, Horn A, Kupsch A, Schneider GH, Lohmann K, Kühn A. Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. J Neurol 2015;262:2739-2744.

  124. Kumar KR, Vulinovic F, Lohmann K, Park JS, Schaake S, Sue CM, Klein C. Mutations in TUBB4A and spastic paraplegia. Mov Disord 2015;30:1857-1858.

  125. Koschmidder E, Weissbach A, Brüggeman N, Kasten M, Klein C, Lohmann K. A nonsense mutation in CHCHD2 in a patient with Parkinson’s Disease. Neurology 2016;86:577-579.

  126. 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;23:116-117.

  127. Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE, Jabusch HC, Wolters A, Kamm C, Zeuner KE, Altenmüller E, Naz S, Chung SJ, Kostic VS, Münchau A, Kühn AA, Brüggemann N, Klein C. The role of mutations in COL6A3 in isolated dystonia. J Neurol 2016;263:730-734.

  128. Bäumer T, Schmidt A, Heldmann M, Landwehr M, Simmer A, Tönniges D, Münte T, Lohmann K, Altenmüller E, Klein C, Münchau A. Abnormal interhemispheric inhibition in musician's dystonia - Trait or state? Parkinsonism Relat Disord 2016;25:33-38.

  129. 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, vorab online publiziert.

  130. Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. Mov Disord 2016;31:436-457.

  131. Steinrücke S, Lohmann K (gleichberechtigte Erstautorin), Domingo A, Rolfs A, Bäumer T, Spiegler J, Hartmann C, Münchau A. Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. Neurol Genet 2016;2:e106.

  132. Klein C, Löchte T, Delamonte SM, Brænne I, Hicks AA, Zschiedrich-Jansen K, Simon DK, Friedman JH, Lohmann K. PLA2G6 mutations and parkinsonism: long-term follow-up of clinical features and neuropathology. Mov Disord 2016, vorab online publiziert.

  133. Zeuner KE, Acewicz A, Knutzen A, Dressler D, Lohmann K, Witt K. Dopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer's cramp. J Neurogenet 2016; vorab online publiziert.

  134. 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, vorab online publiziert.

(Erstautorin: 20; Letztautorin: 21; Gesamt-Impaktfaktor: 778; Durchschnittlicher Impaktfaktor: 5,8;

Zitierungen: 5276; h-Index: 43)

Reviews

  1. Lohmann-Hedrich K, Brüggemann N, Hagenah J, Klein C. Das Parkinson-Syndrom und seine genetischen Ursachen – eine Standortbestimmung. Akt Neurologie 2007;34:151-161.
  2. Klein C, Lohmann-Hedrich K. Impact of recent genetic findings in Parkinson's disease. Curr Opin Neurol 2007;20:453-464.

  3. Kock N, Lohmann K, Klein C. Dystonia, primary. In: Encyclopedia of Molecular Mechanisms of Disease. Lang F (Ed.), Springer, 2008:558-560.

  4. Lohmann K und Klein C. Genetics of Parkinson disease. Continuum: Lifelong Learning in Neurology. 2008;14(2):90-113.

  5. Kumar KR, Lohmann K, Klein C. Genetics of Parkinson disease and other movement disorders. Curr Opin Neurol 2012;25:466-474.

  6. Lohmann K, Brockmann K. Genetik von Bewegungsstörungen. Nervenarzt 2013;84:143-150.

  7. Lohmann K, Klein C. Genetics of dystonia: What's known? What's new? What's next? Mov Disord 2013;28:899-905.

  8. Lohmann K, Klein C. Chapter 74: Dystonia. In: Rosenberg´s Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition, pages 849-860.

  9. Lohmann K, Klein C. Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics 2014;11:699-707.

  10. Lohmann K. Der Beitrag der Gene beim Parkinson-Syndrom. Biospektrum 2015;21:699-702.

  11. Domingo A, Erro R, Lohmann K. Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing. Mov Disord 2016;31:471-477.

  12. Lohmann K. Molecular genetics of dystonia. eLS wiley, im Druck.

 

Editorials and Commentaries

  1. Klein C, Lohmann K. Parkinson disease(s). Is "Parkin disease" a distinct clinical entity? Neurology 2009; 72:106-107.

  2. Lohmann K, Klein C. Familial idiopathic basal ganglia calcification: unraveling the first genetic cause. Mov Disord 2012;27:963.

  3. Kumar KR, Martemyanov KA, Lohmann K. GNAL mutations and dystonia--reply. JAMA Neurol 2014;71:1053-1054.

  4. Lill CM, Mashychev A, Hartmann C, Lohmann K, Marras C, Lang AE, Klein C, Bertram L.Launching the movement disorders society genetic mutation database (MDSGene). Mov Disord 2016;31:607-609.

  5. Klein C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Lohmann K, Marras C; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic! Mov Disord 2016, vorab online publiziert.

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