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Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
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. Cordts I, et al. Among authors: bruggemann n. Mov Disord. 2022 Oct;37(10):2147-2153. doi: 10.1002/mds.29167. Epub 2022 Sep 1. Mov Disord. 2022. PMID: 36047608
ATP13A2 variants in early-onset Parkinson's disease patients and controls.
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. Djarmati A, et al. Among authors: bruggemann n. Mov Disord. 2009 Oct 30;24(14):2104-11. doi: 10.1002/mds.22728. Mov Disord. 2009. PMID: 19705361
Substantia nigra hyperechogenicity with LRRK2 G2019S mutations.
Brüggemann N, Hagenah J, Stanley K, Klein C, Wang C, Raymond D, Ozelius L, Bressman S, Saunders-Pullman R. Brüggemann N, et al. Mov Disord. 2011 Apr;26(5):885-8. doi: 10.1002/mds.23644. Epub 2011 Feb 10. Mov Disord. 2011. PMID: 21312285 Free PMC article.
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
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. Schneider SA, et al. Among authors: bruggemann n. Mov Disord. 2011 Apr;26(5):858-61. doi: 10.1002/mds.23561. Epub 2011 Mar 21. Mov Disord. 2011. PMID: 21425335
Truncating mutations in THAP1 define the nuclear localization signal.
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. Osmanovic A, et al. Among authors: bruggemann n. Mov Disord. 2011 Jul;26(8):1565-7. doi: 10.1002/mds.23611. Epub 2011 Apr 14. Mov Disord. 2011. PMID: 21495072 No abstract available.
Paroxysmal cervical myoclonus.
Zittel S, Bäumer T, Brüggemann N, Gerloff C, Klein C, Münchau A. Zittel S, et al. Among authors: bruggemann n. Mov Disord. 2011 Nov;26(13):2445-6. doi: 10.1002/mds.23913. Epub 2011 Sep 1. Mov Disord. 2011. PMID: 21887708 No abstract available.
Exome sequencing in a family with restless legs syndrome.
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. Weissbach A, et al. Among authors: bruggemann n. Mov Disord. 2012 Nov;27(13):1686-9. doi: 10.1002/mds.25191. Mov Disord. 2012. PMID: 23192925
Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
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. Lohmann K, et al. Among authors: bruggemann n. Mov Disord. 2014 Jun;29(7):921-7. doi: 10.1002/mds.25791. Epub 2013 Dec 26. Mov Disord. 2014. PMID: 24375517
302 results