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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
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. Rafehi H, et al. Among authors: bruggemann n. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
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
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
Identification and functional analysis of novel THAP1 mutations.
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. Lohmann K, et al. Among authors: bruggemann n. Eur J Hum Genet. 2012 Feb;20(2):171-5. doi: 10.1038/ejhg.2011.159. Epub 2011 Aug 17. Eur J Hum Genet. 2012. PMID: 21847143 Free PMC article.
Autosomal dominant Parkinson's disease in a large German pedigree.
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. Brüggemann N, et al. Acta Neurol Scand. 2012 Aug;126(2):129-37. doi: 10.1111/j.1600-0404.2011.01621.x. Epub 2011 Nov 23. Acta Neurol Scand. 2012. PMID: 22107061
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
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
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. Lohmann K, et al. Among authors: bruggemann n. Ann Neurol. 2013 Apr;73(4):537-45. doi: 10.1002/ana.23829. Epub 2013 Apr 17. Ann Neurol. 2013. PMID: 23595291 Free PMC article.
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: bruggemann n. 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
303 results