Kleinz T, Cavallieri F, Borsche M, Toschi G, Valzania F, Fioravanti V, Valente EM, Mitrotti P, Avenali M, Zittel S, Born R, Matarazzo M, Di Fonzo A, Monfrini E, Radefeldt M, Santinelli L, Griebner N, Shambetova C, Brand M, Gabbert C, Blauwendraat C, Trinh J, Lohmann K, Beetz C, Bauer P, Bruggemann N, Klein C. RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria. Mov Disord. 2025 Dec;40(12):2746-2769. doi: 10.1002/mds.70037. Epub 2025 Oct 17. PMID: 41103171

Rossi M, Stephen CD, Damasio J, Pedroso JL, Kuo SH, Lin CR, Ojo O, El-Jaafary S, Lee WW, Madoev H, Barsottini OGP, Srivastava AK, Klein C, van de Warrenburg BP. Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches. Mov Disord. 2025 Sep;40(9):1805-1820. doi: 10.1002/mds.30302. Epub 2025 Jul 18. PMID: 40682316

Rodriguez-Antiguedad J, Rajalingam R, Kruger C, Teixeira-Dos-Santos D, Sun C, Fernandez-Toledo E, Duarte A, Saffie-Awad P, Barrett MJ, Flanigan JL, Emamikhah M, Patel N, San Luciano M, Cooper C, Bahr N, Oguh O, Buhrmann A, Vater M, Fuchshofen R, Vulinovic F, Parreidt MI, Weissbach A, Lohmann K, Klein C, Marras C, Camargos S. Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review. Int J Mol Sci. 2025 Apr 25;26(9):4074. doi: 10.3390/ijms26094074. PMID: 40362326

Rossi M, Schaake S, Usnich T, Boehm J, Steffen N, Schell N, Kruger C, Gul-Demirkale T, Bahr N, Kleinz T, Madoev H, Laabs BH, Gan-Or Z, Alcalay RN, Lohmann K, Klein C. Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review. Mov Disord. 2025 Apr;40(4):605-618. doi: 10.1002/mds.30141. Epub 2025 Feb 10. PMID: 39927608

Kruger C, Lim SY, Buhrmann A, Fahrig FL, Gabbert C, Bahr N, Madoev H, Marras C, Klein C, Lohmann K. Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson's disease. NPJ Parkinsons Dis. 2025 Feb 17;11(1):30. doi: 10.1038/s41531-025-00881-9. PMID: 39962078

Milovanovic A, Westenberger A, Stankovic I, Tamas O, Brankovic M, Marjanovic A, Laabs BH, Brand M, Rajalingam R, Marras C, Lohmann K, Brankovic V, Novakovic I, Petrovic I, Svetel M, Klein C, Kostic VS, Dragasevic-Miskovic N. ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series. Mov Disord. 2024 May;39(5):887-892. doi: 10.1002/mds.29729. Epub 2024 Mar 12. PMID: 38469933

Olszewska DA, Shetty A, Rajalingam R, Rodriguez-Antiguedad J, Hamed M, Huang J, Breza M, Rasheed A, Bahr N, Madoev H, Westenberger A, Trinh J, Lohmann K, Klein C, Marras C, Waln O. Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review. Eur J Neurol. 2023 Oct;30(10):3377-3393. doi: 10.1111/ene.15969. Epub 2023 Jul 17. PMID: 37422902

Thomsen M, Lange LM, Klein C, Lohmann K. MDSGene: Extending the List of Isolated Dystonia Genes by VPS16, EIF2AK2, and AOPEP. Mov Disord. 2023 Mar;38(3):507-508. doi: 10.1002/mds.29327. Epub 2023 Jan 20. PMID: 36670070

Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP. Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review. Mov Disord. 2023 Mar;38(3):368-377. doi: 10.1002/mds.29278. Epub 2022 Nov 14. PMID: 36374860

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. Mov Disord. 2022 Feb;37(2):237-252. doi: 10.1002/mds.28874. Epub 2021 Dec 15. PMID: 34908184

Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A. Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review. Mov Disord. 2021 Nov;36(11):2468-2480. doi: 10.1002/mds.28753. Epub 2021 Aug 25. PMID: 34432325

Wittke C, Petkovic S, Dobricic V, Schaake S, Respondek G, Weissbach A, Madoev H, Trinh J, Vollstedt E-J, Kuhnke N, Lohmann K, Dulovic Mahlow M, Marras C, König IR, Stamelou M, Bonifati V, Lill CM, Kasten M, Huppertz HJ, Höglinger G, Klein C. Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review. Mov Disord. 2021 Jul;36(7):1499-1510. doi: 10.1002/mds.28517. Epub 2021 Mar 19. PMID: 34396589

Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. Mov Disord. 2021 May;36(5):1086-1103. doi: 10.1002/mds.28485. Epub 2021 Jan 27. PMID: 33502045

Wasner K, Grünewald A, Klein C. Parkin-linked Parkinson's disease: From clinical insights to pathogenic mechanisms and novel therapeutic approaches. Neurosci Res 2020;159:34-39. doi: 10.1016/j.neures.2020.09.001. PMID: 32949666

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. Mov Disord 2020;35:1933-1938. doi: 10.1002/mds.28289. PMID: 32949450

Klein C, Hattori N, Marras C. MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease. J Parkinsons Dis 2018;8:S25-S30. doi: 10.3233/JPD-181505. PMID: 30584170

Trinh J, Zeldenrust FMJ, Huang J, Kasten M, Schaake S, Petkovic S, Madoev H, Grünewald A, Almuammar S, König IR, Lill CM, Lohmann K, Klein C, Marras C. Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review. Mov Disord 2018;33:1857-1870. doi: 10.1002/mds.27527. PMID: 30357936

Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C. Genotype-phenotype relations for the Parkinson's Disease genes Parkin, PINK1, DJ1: MDSGene Systematic Review. Mov Disord 2018;33:730-741. PMID: 29644727

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.