Norbert Brüggemann, MD

Research section leader

Name: Norbert Brüggemann

Position/Title: Research Section Leader

Address: Institute of Neurogenetics, University of Lübeck
Ratzeburger Allee 160, 23538 Lübeck, Germany

Phone: +49-451-50043420; Fax: +49-451-50043424
Email: norbert.brüggemann@neuro.uni-luebeck.de

Education:

1998-2005 Medical School at the University of Lübeck

2001-2005 Doctoral thesis at the University of Lübeck, Institute of Clinical and Experimental Pharmacology and Toxicology (Director: Prof. Dr. P. Dominiak), Topic: „Regulation of the expression of orexin receptors by gonadal steroids“ (Dr. med., summa cum laude)

2005-2010 Clinical Training as Medical Doctor at the Department of Neurology, University Clinic of Schleswig-Holstein, Campus Lübeck

2011 Clinical Training as Medical Doctor at the Department of Psychiatry and Psychotherapy, University Clinic of Schleswig-Holstein, Campus Lübeck

01/2012 Habilitation in Neurogenetics at the University of Lübeck, Private Lecturer for Neurogenetics (Priv.-Doz.), Topic: „Characterization of Hereditary Parkinsonian Syndromes using Clinical, Genetic and Imaging Methods“

Scientific Training:

2001-2005 Institute of Clinical and Experimental Pharmacology and Toxicology (University of Lübeck), supervised by Priv.-Doz. Dr. O. Jöhren
Studies on the expression of orexin receptors in rodents

2005-2011 Institute of Neurogenetics (University of Lübeck), supervised by Prof. Dr. C. Klein
Genetics of movement disorders

2011-current Danish Research Centre for Magnetic Resonance (Copenhagen University Hospital Hvidovre, Denmark), supervised by Prof. Dr. H. R. Siebner
Sensorimotor control of actions

Awards:

2002 – 2005 Scholarship of the German Catholic Academic Foundation „Cusanuswerk“

2006 National University Award of the Medical Faculty, University of Lübeck

2008 Travel grant from the Movement Disorder Society

2009 Travel grant from the American Academy of Neurology

2010 Travel grant from the American Academy of Neurology

2011 Travel grant from the Movement Disorder Society

2012 Travel grant from the Movement Disorder Society

2012 Junior Research Award of the Movement Disorder Society

Memberships:

Movement Disorders Society (MDS)

German Neurological Society (DGN)

German Society of Clinical Neurophysiology and Functional Imaging (DGKN)

Working Group botulinum toxin of the German Neurological Society (Arbeitskreis Botulinumtoxin der Deutschen Gesellschaft für Neurologie)

Title: “Role of the ATP13A2 gene in the pathogenesis of parkinsonism“

Principal Investigator
Agency: Intramural Funding of the Medical Faculty, University of Lübeck
Type: Research Grant
Funding period: 2009-2010
Amount: 57,000 €

Title: “Transcranial ultrasonographic evaluation of the basal ganglia in DYT1, DYT11 and DYT12 dystonia”

Co- Investigator (Principal Investigators: R. Saunders-Pullman, MD; J. Hagenah, MD)
Agency: Bachmann Strauss Dystonia & Parkinson Foundation
Type: Research Grant
Funding period: 2011
Amount: 50,000 USD

Title: “Endophenotypes of Movement Disorders”

Principal Investigator (2nd PI: of the Lübeck site C. Klein, MD + 2 PIs from the Kiel site) of a subproject on endophenotypes of essential tremor and Parkinson’s disease
Agency: Medizinausschuss Schleswig-Holstein
Type: Research Grant
Funding period: 2011
Amount: 12,000 €

Title: “Modulation of response inhibition mechanism of action control: a combined TMS-fMRI study in healthy individuals”

Principal Investigator
Agency: German Research Foundation (DFG)
Type: Post-doctoral Fellowship Grant
Funding period: 2011-2013
Amount: 50,000 €

  1. Laß J, Lüth T, Schlüter K, Schaake S, Laabs BH, Much C, Jamora RD, Rosales RL, Saranza G, Diesta CCE, Pearson CE, König IR, Brüggemann N, Klein C, Westenberger A, Trinh J. Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism. Mov Disord 2024;in press.
  2. Kluge A, Borsche M, Streubel-Gallasch L, Gül T, Schaake S, Balck A, Prasuhn J, Campbell P, Morris HR, Schapira AH, Lohmann K, Brüggemann N, Rakovic A, Seibler P, Başak AN, Berg D, Klein C. α-Synuclein Pathology in PRKN-Linked Parkinson's Disease: New Insights from a Blood-Based Seed Amplification Assay. Ann Neurol 2024;6:1173-1177.
  3. Milovanović A, Dragaševic-Mišković N, Thomsen M, Borsche M, Hinrichs F, Westenberger A, Klein C, Brüggemann N, Branković M, Marjanović A, Svetel M, Kostić VS, Lohmann K. RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia. Mov Disord Clin Pract 2024;in press.
  4. Prasuhn J, Henkel J, Algodon SM, Uter J, Rosales RL, Klein C, Steinhardt J, Diesta CC, Brüggemann N. Neuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers. Movement Disorders Clinical Practice 2024;5:550-555.
  5. Graessner H, Reinhard C, Bäumer T, Baumgärtner A, Brockmann K, Brüggemann N, Bültmann E, Erdmann J, Heise K, Höglinger G, Hüning I, Kaiser FJ, Klein C, Klopstock T, Krägeloh-Mann I, Kraemer M, Luedtke K, Mücke M, Musacchio T, Nadke A, Osmanovic A, Ritter G, Röse K, Schippers C, Schöls L, Schüle R, Schulz JB, Sproß J, Stasch E, Wunderlich G, Münchau A. Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet Journal of Rare Diseases 2024;1:62.
  6. Thomsen M, Marth K, Loens S, Everding J, Junker J, Borngräber F, Ott F, Jesús S, Gelderblom M, Odorfer T, Kuhlenbäumer G, Kim HJ, Schaeffer E, Becktepe J, Kasten M, Brüggemann N, Pfister R, Kollewe K, Krauss JK, Lohmann E, Hinrichs F, Berg D, Jeon B, Busch H, Altenmüller E, Mir P, Kamm C, Volkmann J, Zittel S, Ferbert A, Zeuner KE, Rolfs A, Bauer P, Kühn AA, Bäumer T, Klein C, Lohmann K. Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes. Movement Disorders : official Journal of The Movement Disorder Society 2024;3:526-538.
  7. Diaw SH, Borsche M, Streubel-Gallasch L, Dulovic-Mahlow M, Hermes J, Lenz I, Seibler P, Klein C, Brüggemann N, Vos M, Lohmann K. Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease. NPJ Parkinsons Dis 2023;1:148.
  8. Borsche M, Thomsen M, Szmulewicz DJ, Lübbers B, Hinrichs F, Lockhart PJ, Lohmann K, Helmchen C, Brüggemann N. Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B. J Neurol 2023;in press.
  9. Usnich T, Hauptmann B, Hanssen H, Prasuhn J, Balck A, Borsche M, Tadic V, Klee A, Noblejas-Sanchez G, Vollstedt EJ, Klein C, Brüggemann N, Kasten M, EPIPARK Study Group. Depressive symptoms in Parkinson's disease are insufficiently but more often treated than in other chronic conditions. Npj Parkinson's Disease 2023;1:113.
  10. Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. Am J Hum Genet 2023;6:1018.
  11. Mertin R, Diesta C, Brüggemann N, Rosales RL, Hanssen H, Westenberger A, Steinhardt J, Heldmann M, Manalo HTS, Oropilla JQ, Klein C, Helmchen C, Sprenger A. Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP). Journal of Neurology 2023;9:4262-4275.
  12. Borsche M, Dulovic-Mahlow M, Baumann H, Tunc S, Lüth T, Schaake S, Özcakir S, Westenberger A, Münchau A, Knappe E, Trinh J, Brüggemann N, Lohmann K. POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature. Cerebellum 2023;in press.
  13. 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.
  14. Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K. Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. International Journal of Molecular Sciences 2023;3
  15. Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C, MJFF Global Genetic Parkinson's Disease Study Group. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Mov Disord 2023;2:286-303.
  16. Hanssen H, Diesta CCE, Heldmann M, Dy J, Tantianpact J, Steinhardt J, Sauza R, Manalo HTS, Sprenger A, Reyes CJ, Tuazon R, Laabs BH, Domingo A, Rosales RL, Klein C, Münte TF, Westenberger A, Oropilla JQ, Brüggemann N. Basal Ganglia Atrophy as a Marker for Prodromal X-Linked Dystonia-Parkinsonism. Ann Neurol 2023;in press.
  17. Biasiotto R, Kösters M, Tschigg K, Pramstaller PP, Brüggemann N, Borsche M, Klein C, Hicks AA, Mascalzoni D. Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study. Eur J Hum Genet 2023;in press.
  18. Usnich T, Olmedillas M, Schell N, Paul JJ, Curado F, Skobalj S, Csoti I, Ertan S, Gruber D, Zittel S, Sammler E, Isaacson SH, Kühn AA, Pedrosa DJ, Reetz K, Kasten M, Rolfs A, Bauer P, Skrahina V, Klein C, Brüggemann N, LIPAD Study Group. Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants. Parkinsonism Relat Disord 2022:105248.
  19. Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. Am J Hum Genet 2022;1:105-119.
  20. Trinh J, Hicks AA, König IR, Delcambre S, Lüth T, Schaake S, Wasner K, Ghelfi J, Borsche M, Vilariño-Güell C, Hentati F, Germer EL, Bauer P, Takanashi M, Kostić V, Lang AE, Brüggemann N, Pramstaller PP, Pichler I, Rajput A, Hattori N, Farrer MJ, Lohmann K, Weissensteiner H, May P, Klein C, Grünewald A. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease. Brain 2022;7:2753-2765.
  21. Pizarro-Galleguillos BM, Kunert L, Brüggemann N, Prasuhn J. Iron- and Neuromelanin-Weighted Neuroimaging to Study Mitochondrial Dysfunction in Patients with Parkinson's Disease. Int J Mol Sci 2022;22
  22. Prasuhn J, Göttlich M, Ebeling B, Kourou S, Gerkan F, Bodemann C, Großer SS, Reuther K, Hanssen H, Brüggemann N. Assessment of Bioenergetic Deficits in Patients With Parkinson Disease and Progressive Supranuclear Palsy Using 31P-MRSI. Neurology 2022;in press.
  23. Cordts I, Semmler L, Prasuhn J, Seibt A, Herebian D, Navaratnarajah T, Park J, Deininger N, Laugwitz L, Göricke SL, Lingor P, Brüggemann N, Münchau A, Synofzik M, Timmann D, Mayr JA, Haack TB, Distelmaier F, Deschauer M. Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease. Mov Disord 2022;10:2147-2153.
  24. 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.
  25. Prasuhn J, Göttlich M, Großer SS, Reuther K, Ebeling B, Bodemann C, Hanssen H, Nagel AM, Brüggemann N. Increased Subcortical Sodium Levels in Patients with Progressive Supranuclear Palsy. Biomedicines 2022;7
  26. Prasuhn J, Kunert L, Brüggemann N. Neuroimaging Methods to Map In Vivo Changes of OXPHOS and Oxidative Stress in Neurodegenerative Disorders. Int J Mol Sci 2022;13
  27. Prasuhn J, Göttlich M, Ebeling B, Bodemann C, Großer S, Wellach I, Reuther K, Hanssen H, Brüggemann N. The cerebellar bioenergetic state predicts treatment response in COQ8A-related ataxia. Parkinsonism Relat Disord 2022:91-95.
  28. Borsche M, Tadic V, König IR, Lohmann K, Helmchen C, Brüggemann N. Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS. Brain Behav 2022;6:e32546.
  29. Steinhardt J, Hanssen H, Heldmann M, Sprenger A, Laabs BH, Domingo A, Reyes CJ, Prasuhn J, Brand M, Rosales R, Münte TF, Klein C, Westenberger A, Oropilla JQ, Diesta C, Brüggemann N. Prodromal X-Linked Dystonia-Parkinsonism is Characterized by a Subclinical Motor Phenotype. Mov Disord 2022;7:1474-1482.
  30. Usnich T, Hanssen H, Lohmann K, Lohse C, Klein C, Kasten M, Brüggemann N, EPIPARK Study Group. Pronounced Orthostatic Hypotension in GBA-Related Parkinson's Disease. J Parkinsons Dis 2022;5:1539-1544.
  31. Trinh J, Lüth T, Schaake S, Laabs BH, Schlüter K, Laβ J, Pozojevic J, Tse R, König I, Jamora RD, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Kaiser FJ, Depienne C, Pearson CE, Westenberger A, Klein C. Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset. Brain 2022;3:1075-1082.
  32. Prasuhn J, Göttlich M, Gerkan F, Kourou S, Ebeling B, Kasten M, Hanssen H, Klein C, Brüggemann N. Relationship between brain iron deposition and mitochondrial dysfunction in idiopathic Parkinson's disease. Mol Med 2022;1:28.
  33. 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 V,  Rosales RL, Jamora RD, Diesta CC, Matschke J, Glatzel M, Kirchner H, Seibler P,  Händler K, Rakovic A, Spielmann M, Kaiser FJ,  Klein C, Westenberger A. Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon. Int J Mol Sci 2022;23:2231.
  34. Prasuhn J, Strautz R, Lemmer F, Dreischmeier S, Kasten M, Hanssen H, Heldmann M, Brüggemann N. Neuroimaging Correlates of Substantia Nigra Hyperechogenicity in Parkinson's Disease. J Parkinsons Dis 2022;4:1191-1200.
  35. Prasuhn J, Göttlich M, Grosser SS, Reuther K, Ebeling B, Münchau A, Nagel AM, Brüggemann N. In Vivo Brain Sodium Disequilibrium in ATP1A3-Related Rapid-Onset Dystonia-Parkinsonism. Mov Disord 2022;4:877-879.
  36. Pauly MG, Barlage M, Hamami F, Steinhardt J, Baarbé J, Tran S, Hanssen H, Herzog R, Tadic V, Brüggemann N, Chen R, Münchau A, Bäumer T, Weissbach A. Subthalamic nucleus conditioning reduces premotor-motor interaction in Parkinson's disease. Parkinsonism & Related Disorders 2022:6-12.
  37. 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
  38. Ranjbar M, Plöttner P, Sochurek JAM, Lauermann JL, Alten F, Prasuhn J, Kasten M, Brüggemann N. The impact of motion artifacts on quantitative optical coherence tomography angiography analysis in Parkinson's disease. Parkinsonism Relat Disord 2022:57-58.
  39. Weissbach A, Steinmeier A, Pauly M, Al-Shorafat DM, Saranza G, Lang A, Brüggemann N, Tadic V, Klein C, Münchau A, Bäumer T, Brown MJN. Longitudinal evaluations of somatosensory-motor inhibition in Dopa-responsive dystonia. Parkinsonism Relat Disord 2022:40-46.
  40. Koch S, Laabs BH, Kasten M, Vollstedt EJ, Becktepe J, Brüggemann N, Franke A, Krämer UM, Kuhlenbäumer G, Lieb W, Mollenhauer B, Neis M, Trenkwalder C, Schäffer E, Usnich T, Wittig M, Klein C, König IR, Lohmann K, Krawczak M, Caliebe A. Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease. Genes 2021;12
  41. Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K. Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review. Movement Disorders : official Journal of The Movement Disorder Society 2021;2:237-252.
  42. Prasuhn J, Brüggemann N. Gene Therapeutic Approaches for the Treatment of Mitochondrial Dysfunction in Parkinson's Disease. Genes (Basel) 2021;11
  43. Usnich T, Vollstedt EJ, Schell N, Skrahina V, Bogdanovic X, Gaber H, Förster TM, Heuer A, Koleva-Alazeh N, Csoti I, Basak AN, Ertan S, Genc G, Bauer P, Lohmann K, Grünewald A, Schymanski EL, Trinh J, Schaake S, Berg D, Gruber D, Isaacson SH, Kühn AA, Mollenhauer B, Pedrosa DJ, Reetz K, Sammler EM, Valente EM, Valzania F, Volkmann J, Zittel S, Brüggemann N, Kasten M, Rolfs A, Klein C, LIPAD Study Group. LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort. Frontiers in Neurology 2021:710572.
  44. Pauly MG, Hellenbroich Y, Grundmann-Hauser K, Hinrichs F, Lohmann K, Brüggemann N. Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia. Movement Disorders Clinical Practice 2021;6:972-976.
  45. 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. Neurol Genet 2021;4:e608.
  46. Prasuhn J, Prasuhn M, Fellbrich A, Strautz R, Lemmer F, Dreischmeier S, Kasten M, Münte TF, Hanssen H, Heldmann M, Brüggemann N. Association of Locus Coeruleus and Substantia Nigra Pathology With Cognitive and Motor Functions in Patients With Parkinson Disease. Neurology 2021;10:e1007-e1016.
  47. Weissbach A, Steinmeier A, Pauly MG, Al-Shorafat DM, Saranza G, Lang AE, Brüggemann N, Tadic V, Klein C, Lohmann K, Brown MJN, Beste C, Münchau A, Bäumer T. Multimodal Longitudinal Neurophysiological Investigations in Dopa-Responsive Dystonia. Movement Disorders : official Journal of The Movement Disorder Society 2021;8:1986-1987.
  48. Herzog R, Hellenbroich Y, Brüggemann N, Lohmann K, Grimmel M, Haack TB, von Spiczak S, Münchau A. Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy. Ann Clin Transl Neurol 2021;7:1524-1527.
  49. 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. Nat Commun 2021;1:3216.
  50. Prasuhn J, Neumann A, Strautz R, Dreischmeier S, Lemmer F, Hanssen H, Heldmann M, Schramm P, Brüggemann N. Clinical MR imaging in Parkinson's disease: How useful is the swallow tail sign? Brain Behav 2021;7:e02202.
  51. Mascalzoni D, Biasiotto R, Borsche M, Brüggemann N, De Grandi A, Goegele M, Frygner-Holm S, Klein C, Kösters M, Staunton C, Pramstaller PP, Krawczak M, Hicks AA. Balancing scientific interests and the rights of participants in designing a recall by genotype study. Eur J Hum Genet 2021;7:1146-1157.
  52. Prasuhn J, Borsche M, Hicks AA, Gögele M, Egger C, Kritzinger C, Pichler I, Castelo-Rueda MP, Langlott L, Kasten M, Mascalzoni D, Klein C, Pramstaller PP, Brüggemann N. Task matters – challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls. Parkinsonism Relat Disord 2021:101-104.
  53. Prasuhn J, Brüggemann N. Genotype-driven therapeutic developments in Parkinson's disease. Mol Med 2021;1:42.
  54. Lauermann JL, Sochurek JAM, Plöttner P, Alten F, Kasten M, Prasuhn J, Brüggemann N, Ranjbar M. Applicability of optical coherence tomography angiography (OCTA) imaging in Parkinson's disease. Sci Rep 2021;1:5520.
  55. Prasuhn J, Kasten M, Vos M, König IR, Schmid SM, Wilms B, Klein C, Brüggemann N. The Use of Vitamin K2 in Patients With Parkinson's Disease and Mitochondrial Dysfunction (PD-K2): A Theranostic Pilot Study in a Placebo-Controlled Parallel Group Design. Front Neurol 2021:592104.
  56. Trilck-Winkler M, Borsche M, König IR, Balck A, Lenz I, Kasten M, Lohmann K, Brockmann K, Valente EM, Klein C, Brüggemann N, Seibler P. Parkin Deficiency Appears Not to Be Associated with Cardiac Damage in Parkinson's Disease. Mov Disord 2021;1:271-273.
  57. Over L, Brüggemann N, Lohmann K. Therapies for Genetic Forms of Parkinson's Disease: Systematic Literature Review. J Neuromuscul Dis 2021;in press.
  58. Prasuhn J, Heldmann M, Münte TF, Brüggemann N. A machine learning-based classification approach on Parkinson's disease diffusion tensor imaging datasets. Neurol Res Pract 2020:46.
  59. Prasuhn J, Brüggemann N, Hessler N, Berg D, Gasser T, Brockmann K, Olbrich D, Ziegler A, König IR, Klein C, Kasten M. An omics-based strategy using coenzyme Q10 in patients with Parkinson's disease: concept evaluation in a double-blind randomized placebo-controlled parallel group trial. Neurol Res Pract 2020:31.
  60. 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.
  61. Pott H, Brüggemann N, Reese R, Zeuner KE, Gandor F, Gruber D, DysTract Study Group, Klein C, Volkmann J, Lohmann K. Truncating VPS16 Mutations Are Rare in Early Onset Dystonia. Ann Neurol 2020;3:625-626.
  62. Shaikh AG, Beylergil SB, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze E, Bonnet C, Jankovic J, Jimenez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman BD, Malaty I, Wagle Shukla A, Reich SG, Ledoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Pirio Richardson S, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA. Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort. Neurology 2020;4:e563-e574.
  63. Borsche M, König IR, Delcambre S, Petrucci S, Balck A, Brüggemann N, Zimprich A, Wasner K, Pereira SL, Avenali M, Deuschle C, Badanjak K, Ghelfi J, Gasser T, Kasten M, Rosenstiel P, Lohmann K, Brockmann K, Valente EM, Youle RJ, Grünewald A, Klein C. Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism. Brain 2020;10:3041-3051.
  64. Baumann H, Tunc S, Günther A, Münchau A, Lohmann K, Brüggemann N. Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature. Parkinsonism Relat Disord 2020:41-46.
  65. 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.
  66. Gisatulin M, Dobricic V, Zühlke C, Hellenbroich Y, Tadic V, Münchau A, Isenhardt K, Bürk K, Bahlo M, Lockhart PJ, Lohmann K, Helmchen C, Brüggemann N. Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes. Neurology 2020;21:e2912-e2923.
  67. Pauly MG, Münchau A, Brüggemann N. Severe Scratching in Spinocerebellar Ataxia 17: Another Case. Tremor And Other Hyperkinetic Movements (new York, N.y.) 2020:15.
  68. 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 Relat Disord 2020:116-118.
  69. Germer EL, Imhoff S, Vilariño-Güell C, Kasten M, Seibler P, Brüggemann N, International Parkinson’s Disease Genomics Consortium., Klein C, Trinh J. The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci. Front Neurol 2020:1284.
  70. Berman BD, Groth CL, Sillau SH, Pirio Richardson S, Norris SA, Junker J, Brüggemann N, Agarwal P, Barbano RL, Espay AJ, Vizcarra JA, Klein C, Bäumer T, Loens S, Reich SG, Vidailhet M, Bonnet C, Rose E, Jinnah HA, Perlmutter JS. Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. J Neurol Neurosurg Psychiatry 2019;in press.
  71. Trinh J, Imhoff S, Dulovic-Mahlow M, Kandaswamy KK, Tadic V, Schäfer J, Dobricic V, Nolte A, Werber M, Rolfs A, Münchau A, Klein C, Lohmann K, Brüggemann N. Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. J Neurol 2019;in press.
  72. Lohmann K, Brüggemann N. Rediscovery of repeat expansions: Solving the unsolved cases. Mov Disord 2019;9:1300.
  73. Hanssen H, Prasuhn J, Heldmann M, Diesta CC, Domingo A, Göttlich M, Blood AJ, Rosales RL, Jamora RDG, Münte TF, Klein C, Brüggemann N. Imaging gradual neurodegeneration in a basal ganglia model disease. Ann Neurol 2019;4:517-526.
  74. Borsche M, Balck A, Kasten M, Lohmann K, Klein C, Brüggemann N. The sooner, the later – Delayed diagnosis in Parkinson's disease due to Parkin mutations. Parkinsonism Relat Disord 2019:284-285.
  75. Balck A, Borsche M, Kasten M, Lohmann K, Seibler P, Brüggemann N, Klein C. Discordance in monozygotic Parkinson's disease twins – continuum or dichotomy? Ann Clin Transl Neurol 2019;6:1102-1105.
  76. Tunc S, Dulovic-Mahlow M, Baumann H, Baaske MK, Jahn M, Junker J, Münchau A, Brüggemann N, Lohmann K. Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2. Cerebellum 2019;4:817-822.
  77. 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.
  78. Brüggemann N, Klein C. Will genotype drive treatment options? Mov Disord 2019;9:1294-1299.
  79. Klein C, Baumann H, Olschewski L, Hanssen H, Münchau A, Ferbert A, Brüggemann N, Lohmann K. De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient. Parkinsonism Relat Disord 2019:337-339.
  80. Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K. Role of ANO3 mutations in dystonia: A large-scale mutational screening study. Parkinsonism Relat Disord 2019:196-200.
  81. Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A, International Parkinson's Disease Genomics Consortium (IPDGC)., Klein C. Utility and implications of exome sequencing in early-onset Parkinson's disease. Mov Disord 2018;1:133-137.
  82. Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. JAMA Neurol 2018;2:211-216.
  83. Borsche M, Hahn S, Hanssen H, Münchau A, Wandinger KP, Brüggemann N. Sez6l2-antibody-associated progressive cerebellar ataxia: a differential diagnosis of atypical parkinsonism. J Neurol 2018;2:522-524.
  84. Prasuhn J, Royl G, Wandinger KP, Brüggemann N, Neumann A, Münte TF. Transient Generalized Chorea in Influenza A Encephalopathy. Tremor Other Hyperkinet Mov (N Y) 2018:591.
  85. Sprenger A, Hanssen H, Hagedorn I, Prasuhn J, Rosales RL, Jamora RDG, Diesta CC, Domingo A, Klein C, Brüggemann N, Helmchen C. Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration. Parkinsonism Relat Disord 2018:170-178.
  86. Hanssen H, Heldmann M, Prasuhn J, Tronnier V, Rasche D, Diesta CC, Domingo A, Rosales RL, Jamora RD, Klein C, Münte TF, Brüggemann N. Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. Brain 2018;10:2995-3008.
  87. 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.
  88. Capetian P, Stanslowsky N, Bernhardi E, Grütz K, Domingo A, Brüggemann N, Naujock M, Seibler P, Klein C, Wegner F. Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients. Experimental Neurology 2018:47-58.
  89. Heldmann M, Heeren J, Klein C, Rauch L, Hagenah J, Münte TF, Kasten M, Brüggemann N. Neuroimaging abnormalities in individuals exhibiting Parkinson's disease risk markers. Mov Disord 2018;9:1412-1422.
  90. Dulovic M, Schäffer E, Leypoldt F, Balck A, Schaake S, Hinrichs F, Kirchner H, Brüggemann N, Berg D, Lohmann K. A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members. Parkinsonism Relat Disord 2018:116-118.
  91. Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann Neurol 2018;6:1075-1088.
  92. Blood AJ, Waugh JL, Münte TF, Heldmann M, Domingo A, Klein C, Breiter HC, Lee LV, Rosales RL, Brüggemann N. Increased insula-putamen connectivity in X-linked dystonia-parkinsonism. Neuroimage Clin 2018:835-846.
  93. Balck A, Tunc S, Schmitz J, Hollstein R, Kaiser FJ, Brüggemann N. A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2. Cerebellum 2018;4:504-506.
  94. Manzoor H, Brüggemann N, Hussain HMJ, Bäumer T, Hinrichs F, Wajid M, Münchau A, Naz S, Lohmann K. Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders. Parkinsonism Relat Disord 2018:91-95.
  95. Weissbach A, Werner E, Bally JF, Tunc S, Löns S, Timmann D, Zeuner KE, Tadic V, Brüggemann N, Lang A, Klein C, Münchau A, Bäumer T. Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation. Ann Neurol 2017;4:543-553.
  96. Weissbach A, König IR, Hückelheim K, Pramstaller PP, Werner E, Brüggemann N, Tadic V, Lohmann K, Bäumer T, Münchau A, Kasten M, Klein C. Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers. Parkinsonism Relat Disord 2017:95-99.
  97. Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Screening study of TUBB4A in isolated dystonia. Parkinsonism Relat Disord 2017:118-120.
  98. Manzoor H, Bukhari I, Wajid M, Zhang Y, Zhang H, Brüggemann N, Klein C, Shi Q, Naz S. A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1. J Clin Neurol 2017;3:303-305.
  99. 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.
  100. Steinlechner S, Hagenah J, Rumpf HJ, Meyer C, John U, Bäumer T, Brüggemann N, Kasten M, Münchau A, Klein C, Lencer R. Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease. J Neurol 2017;6:1076-1084.
  101. Prasuhn J, Piskol L, Vollstedt EJ, Graf J, Schmidt A, Tadic V, Tunc S, Hampf J, Warrlich E, Bibergeil C, Hagenah J, Klein C, Kasten M, Brüggemann N. Non-motor symptoms and quality of life in subjects with mild parkinsonian signs. Acta Neurol Scand 2017;5:495-500.
  102. Tadic V, Klein C, Hinrichs F, Münchau A, Lohmann K, Brüggemann N. CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia. J Neurol 2017;5:1008-1010.
  103. 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.
  104. 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.
  105. Weissbach A, Bäumer T, Pramstaller PP, Brüggemann N, Tadic V, Chen R, Klein C, Münchau A. Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers. Clin Neurophysiol 2016;1:275-280.
  106. Brüggemann N, Heldmann M, Klein C, Domingo A, Rasche D, Tronnier V, Rosales RL, Jamora RD, Lee LV, Münte TF. Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism. Parkinsonism Relat Disord 2016:91-97.
  107. 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.
  108. 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;4:730-734.
  109. Koschmidder E, Weissbach A, Brüggemann N, Kasten M, Klein C, Lohmann K. A nonsense mutation in CHCHD2 in a patient with Parkinson disease. Neurology 2016;6:577-579.
  110. 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.
  111. Norris SA, Jinnah HA, Espay AJ, Klein C, Brüggemann N, Barbano RL, Malaty IA, Rodriguez RL, Vidailhet M, Roze E, Reich SG, Berman BD, LeDoux MS, Richardson SP, Agarwal P, Mari Z, Ondo WG, Shih LC, Fox SH, Berardelli A, Testa CM, Cheng FC, Truong D, Nahab FB, Xie T, Hallett M, Rosen AR, Wright LJ, Perlmutter JS. Clinical and demographic characteristics related to onset site and spread of cervical dystonia. Mov Disord 2016;12:1874-1882.
  112. 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;12:2739-2744.
  113. Steinlechner S, Wenzel L, Kasten M, Tadic V, Brüggemann N, Hagenah J, Rumpf HJ, Klein C, Lencer R. [Evaluation of Psychiatric Disorders on the Basis of a SCID Screening]. Fortschritte Der Neurologie-psychiatrie 2015;9:499-505.
  114. Weissbach A, Bäumer T, Brüggemann N, Tadic V, Zittel S, Cheng B, Thomalla G, Klein C, Münchau A. Premotor-motor excitability is altered in dopa-responsive dystonia. Mov Disord 2015;12:1705-1709.
  115. Freundlieb N, Backhaus W, Brüggemann N, Gerloff C, Klein C, Pinnschmidt HO, Hummel FC. Differential effects of BDNF val(66)met in repetitive associative learning paradigms. Neurobiol Learn Mem 2015:11-17.
  116. 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.
  117. 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;9:895-903.
  118. Tunc S, Graf J, Tadic V, Brüggemann N, Schmidt A, Al-Khaled M, Wolff S, Vollstedt EJ, Lorwin A, Hampf J, Piskol L, Klein C, Hagenah J, Kasten M. A population-based study on combined markers for early Parkinson's disease. Mov Disord 2014;4:531-537.
  119. 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 2014;1:187-193.
  120. 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.
  121. 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.
  122. Brüggemann N, Stiller S, Tadic V, Kasten M, Münchau A, Graf J, Klein C, Hagenah J. Non-motor phenotype of dopa-responsive dystonia and quality of life assessment. Parkinsonism Relat Disord 2014;4:428-431.
  123. 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.
  124. 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.
  125. Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, 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 AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2013;4:537-545.
  126. Weissbach A, Kasten M, Grünewald A, Brüggemann N, Trillenberg P, Klein C, Hagenah J. Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia. Parkinsonism Relat Disord 2013;4:422-425.
  127. 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.
  128. Freundlieb N, Philipp S, Schneider SA, Brüggemann N, Klein C, Gerloff C, Hummel FC. No association of the BDNF val66met polymorphism with implicit associative vocabulary and motor learning. PLoS One 2012;11:e48327.
  129. 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;13:1686-1689.
  130. Tadic V, Kasten M, Brüggemann N, Stiller S, Hagenah J, Klein C. Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. Arch Neurol 2012;12:1558-1562.
  131. 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;6:754-759.
  132. Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider SA, Stephani U, Boor R, Gillessen-Kaesbach G, Sperner J, Klein C. Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency. Arch Neurol 2012;8:1071-1075.
  133. Richter J, Appenzeller S, Ammerpohl O, Deuschl G, Paschen S, Brüggemann N, Klein C, Kuhlenbäumer G. No evidence for differential methylation of α-synuclein in leukocyte DNA of Parkinson's disease patients. Mov Disord 2012;4:590-591.
  134. 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 2011;2:129-137.
  135. Djarmati-Westenberger A, Brüggemann N, Espay AJ, Bhatia KP, Klein C. A novel DCC mutation and genetic heterogeneity in congenital mirror movements. Neurology 2011;16:1580.
  136. 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;12:2279-2283.
  137. Zittel S, Bäumer T, Brüggemann N, Gerloff C, Klein C, Münchau A. Paroxysmal cervical myoclonus. Mov Disord 2011;13:2445-2446.
  138. Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, 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 2011;2:171-175.
  139. 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;8:1565-1567.
  140. 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;5:858-861.
  141. 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;3:e16746.
  142. Brüggemann N, Wuerfel J, Petersen D, Klein C, Hagenah J, Schneider SA. Idiopathic NBIA–clinical spectrum and transcranial sonography findings. European Journal of Neurology 2011;6:e58-59.
  143. Brüggemann N, Hagenah J, Stanley K, Klein C, Wang C, Raymond D, Ozelius L, Bressman S, Saunders-Pullman R. Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. Mov Disord 2011;5:885-888.
  144. 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 (Berl) 2010;3:729-736.
  145. 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.
  146. Hagenah J, König IR, Kötter C, Seidel G, Klein C, Brüggemann N. Basal ganglia hyperechogenicity does not distinguish between patients with primary dystonia and healthy individuals. J Neurol 2010;4:590-595.
  147. Machner B, Sprenger A, Behrens MI, Ramirez A, Brüggemann N, Klein C, Helmchen C. Eye movement disorders in ATP13A2 mutation carriers (PARK9). Mov Disord 2010;15:2687-2689.
  148. Steinlechner S, Brüggemann N, Sobottka V, Benthien A, Behn B, Klein C, Schmid G, Lencer R. Restless legs syndrome as a possible predictor for psychiatric disorders in parents of children with ADHD. Eur Arch Psychiatry Clin Neurosci 2010;4:285-291.
  149. Brüggemann N, Schneider SA, Sander T, Klein C, Hagenah J. Distinct basal ganglia hyperechogenicity in idiopathic basal ganglia calcification. Mov Disord 2010;15:2661-2664.
  150. 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;15:2665-2669.
  151. 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;14:2405-2412.
  152. Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010;12:1929-1937.
  153. Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores G, Sathe S, Tagliati M, Condefer K, Palmese C, Brüggemann N, Klein C, Roe A, Kornreich R, Ozelius L, Bressman S. Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. Mov Disord 2010;10:1364-1372.
  154. Reetz K, Tadic V, Kasten M, Brüggemann N, Schmidt A, Hagenah J, Pramstaller PP, Ramirez A, Behrens MI, Siebner HR, Klein C, Binkofski F. Structural imaging in the presymptomatic stage of genetically determined parkinsonism. Neurobiol Dis 2010;3:402-408.
  155. Brüggemann N, Klein C, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. Parkin Type of Early-Onset Parkinson Disease. 2010;in press.
  156. Hagenah J, König IR, Sperner J, Wessel L, Seidel G, Condefer K, Saunders-Pullman R, Klein C, Brüggemann N. Life-long increase of substantia nigra hyperechogenicity in transcranial sonography. Neuroimage 2010;1:28-32.
  157. Stanley K, Hagenah J, Brüggemann N, Reetz K, Severt L, Klein C, Yu Q, Derby C, Pullman S, Saunders-Pullman R. Digitized spiral analysis is a promising early motor marker for Parkinson Disease. Parkinsonism Relat Disord 2010;3:233-234.
  158. 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.
  159. Brüggemann N, Kock N, Lohmann K, 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;16:1441-1443.
  160. 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;14:1248-1254.
  161. 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.
  162. Zschiedrich K, König IR, Brüggemann N, Kock N, Kasten M, Leenders KL, Kostić V, Vieregge P, Ziegler A, Klein C, Lohmann K. MDR1 variants and risk of Parkinson disease. Association with pesticide exposure? J Neurol 2009;1:115-120.
  163. 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.
  164. 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;9:1071-1074.
  165. 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.
  166. Schmidt A, Jabusch HC, Altenmüller E, Hagenah J, Brüggemann 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;4:691-693.