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Page 1
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
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, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: borsche m. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014 Free article.
Utility and implications of exome sequencing in early-onset Parkinson's disease.
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. Trinh J, et al. Among authors: borsche m. Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10. Mov Disord. 2019. PMID: 30537300 Free PMC article.
A Multi-center Genome-wide Association Study of Cervical Dystonia.
Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Krämer UM, Neis M, Bäumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kühn AA, Borngräber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA. Sun YV, et al. Among authors: borsche m. Mov Disord. 2021 Dec;36(12):2795-2801. doi: 10.1002/mds.28732. Epub 2021 Jul 28. Mov Disord. 2021. PMID: 34320236 Free PMC article.
Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease.
Diaw SH, Borsche M, Streubel-Gallasch L, Dulovic-Mahlow M, Hermes J, Lenz I, Seibler P, Klein C, Brüggemann N, Vos M, Lohmann K. Diaw SH, et al. Among authors: borsche m. NPJ Parkinsons Dis. 2023 Oct 30;9(1):148. doi: 10.1038/s41531-023-00584-z. NPJ Parkinsons Dis. 2023. PMID: 37903765 Free PMC article.
Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls.
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. Prasuhn J, et al. Among authors: borsche m. Parkinsonism Relat Disord. 2021 May;86:101-104. doi: 10.1016/j.parkreldis.2021.03.028. Epub 2021 Apr 20. Parkinsonism Relat Disord. 2021. PMID: 33895538
44 results