Müller U - Search Results

1

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM. Waters MF, et al. Among authors: muller u. Nat Genet. 2006 Apr;38(4):447-51. doi: 10.1038/ng1758. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501573

2

Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women.

Evidente VG, Nolte D, Niemann S, Advincula J, Mayo MC, Natividad FF, Müller U. Evidente VG, et al. Among authors: muller u. Arch Neurol. 2004 Dec;61(12):1956-9. doi: 10.1001/archneur.61.12.1956. Arch Neurol. 2004. PMID: 15596620

3

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Among authors: muller u. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.

4

The TAF1/DYT3 multiple transcript system in X-linked dystonia-parkinsonism.

Muller U, Herzfeld T, Nolte D. Muller U, et al. Am J Hum Genet. 2007 Aug;81(2):415-7; author reply 417-8. doi: 10.1086/519528. Am J Hum Genet. 2007. PMID: 17668393 Free PMC article. No abstract available.

5

Human O-GlcNAc transferase (OGT): genomic structure, analysis of splice variants, fine mapping in Xq13.1.

Nolte D, Müller U. Nolte D, et al. Among authors: muller u. Mamm Genome. 2002 Jan;13(1):62-4. doi: 10.1007/s00335-001-2108-9. Mamm Genome. 2002. PMID: 11773972 No abstract available.

6

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.

Nolte D, Niemann S, Müller U. Nolte D, et al. Among authors: muller u. Proc Natl Acad Sci U S A. 2003 Sep 2;100(18):10347-52. doi: 10.1073/pnas.1831949100. Epub 2003 Aug 19. Proc Natl Acad Sci U S A. 2003. PMID: 12928496 Free PMC article.

7

First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation.

Evidente VG, Lyons MK, Wheeler M, Hillman R, Helepolelei L, Beynen F, Nolte D, Müller U, Starr PA. Evidente VG, et al. Among authors: muller u. Mov Disord. 2007 Sep 15;22(12):1790-3. doi: 10.1002/mds.21420. Mov Disord. 2007. PMID: 17579361

8

Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.

Nolte D, Landendinger M, Schmitt E, Müller U. Nolte D, et al. Among authors: muller u. Mov Disord. 2007 Jan 15;22(2):265-7. doi: 10.1002/mds.21269. Mov Disord. 2007. PMID: 17149711

9

Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.

Müller U, Winter P, Bolender C, Nolte D. Müller U, et al. J Alzheimers Dis. 2014;42(1):109-13. doi: 10.3233/JAD-140399. J Alzheimers Dis. 2014. PMID: 24844686

10

A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.

Löbbe AM, Kang JS, Hilker R, Hackstein H, Müller U, Nolte D. Löbbe AM, et al. Among authors: muller u. J Mol Neurosci. 2014 Apr;52(4):493-6. doi: 10.1007/s12031-013-0187-1. Epub 2013 Nov 29. J Mol Neurosci. 2014. PMID: 24293060

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