Brüggemann N - Search Results

1

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.

Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C. Rakovic A, et al. Among authors: bruggemann n. Mov Disord. 2018 Jul;33(7):1108-1118. doi: 10.1002/mds.27441. Mov Disord. 2018. PMID: 30153385

2

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.

Seibler P, Djarmati A, Langpap B, Hagenah J, Schmidt A, Brüggemann N, Siebner H, Jabusch HC, Altenmüller E, Münchau A, Lohmann K, Klein C. Seibler P, et al. Among authors: bruggemann n. Lancet Neurol. 2008 May;7(5):380-1. doi: 10.1016/S1474-4422(08)70075-9. Lancet Neurol. 2008. PMID: 18420150 No abstract available.

3

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K, Winkler S, Pawlack H, Lohnau T, Pramstaller PP, Klein C, Lohmann K. Brüggemann N, et al. Parkinsonism Relat Disord. 2009 Jul;15(6):425-9. doi: 10.1016/j.parkreldis.2008.11.014. Epub 2009 Jan 21. Parkinsonism Relat Disord. 2009. PMID: 19162522

4

MDR1 variants and risk of Parkinson disease. Association with pesticide exposure?

Zschiedrich K, König IR, Brüggemann N, Kock N, Kasten M, Leenders KL, Kostić V, Vieregge P, Ziegler A, Klein C, Lohmann K. Zschiedrich K, et al. Among authors: bruggemann n. J Neurol. 2009 Jan;256(1):115-20. doi: 10.1007/s00415-009-0089-x. Epub 2009 Jan 29. J Neurol. 2009. PMID: 19184162

5

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Djarmati A, et al. Among authors: bruggemann n. Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1. Lancet Neurol. 2009. PMID: 19345148

6

The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?

Brüggemann N, Kock N, Lohmann K, König IR, Rakovic A, Hagenah J, Schmidt A, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C. Brüggemann N, et al. Neurology. 2009 Apr 21;72(16):1441-3. doi: 10.1212/WNL.0b013e3181a1861e. Neurology. 2009. PMID: 19380705 No abstract available.

7

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

8

Life-long increase of substantia nigra hyperechogenicity in transcranial sonography.

Hagenah J, König IR, Sperner J, Wessel L, Seidel G, Condefer K, Saunders-Pullman R, Klein C, Brüggemann N. Hagenah J, et al. Among authors: bruggemann n. Neuroimage. 2010 May 15;51(1):28-32. doi: 10.1016/j.neuroimage.2010.01.112. Epub 2010 Feb 10. Neuroimage. 2010. PMID: 20152909

9

Genetics of primary torsion dystonia.

Brüggemann N, Klein C. Brüggemann N, et al. Curr Neurol Neurosci Rep. 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. Curr Neurol Neurosci Rep. 2010. PMID: 20425035 Review.

10

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.

Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores G, Sathe S, Tagliati M, Condefer K, Palmese C, Brüggemann N, Klein C, Roe A, Kornreich R, Ozelius L, Bressman S. Saunders-Pullman R, et al. Among authors: bruggemann n. Mov Disord. 2010 Jul 30;25(10):1364-72. doi: 10.1002/mds.23046. Mov Disord. 2010. PMID: 20629126 Free PMC article.

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