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POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
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. Borsche M, et al. Among authors: westenberger a. Cerebellum. 2024 Apr;23(2):479-488. doi: 10.1007/s12311-023-01557-x. Epub 2023 Apr 22. Cerebellum. 2024. PMID: 37085601 Free PMC article. Review.
Mortalin mutations are not a frequent cause of early-onset Parkinson disease.
Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Hagenah J, Lohmann K, Klein C, Westenberger A. Freimann K, et al. Among authors: westenberger a. Neurobiol Aging. 2013 Nov;34(11):2694.e19-20. doi: 10.1016/j.neurobiolaging.2013.05.021. Epub 2013 Jul 5. Neurobiol Aging. 2013. PMID: 23831374
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: westenberger a. Mov Disord. 2014 Jun;29(7):921-7. doi: 10.1002/mds.25791. Epub 2013 Dec 26. Mov Disord. 2014. PMID: 24375517
Mutations in GNAL: a novel cause of craniocervical dystonia.
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. Kumar KR, et al. Among authors: westenberger a. JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677. JAMA Neurol. 2014. PMID: 24535567 Free PMC article.
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
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. Domingo A, et al. Among authors: westenberger a. Eur J Hum Genet. 2015 Oct;23(10):1334-40. doi: 10.1038/ejhg.2014.292. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604858 Free PMC article.
RAB39B mutations are a rare finding in Parkinson disease patients.
Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K. Löchte T, et al. Among authors: westenberger a. Parkinsonism Relat Disord. 2016 Feb;23:116-7. doi: 10.1016/j.parkreldis.2015.12.014. Epub 2015 Dec 22. Parkinsonism Relat Disord. 2016. PMID: 26739247 No abstract available.
90 results