Müller U - Search Results

1

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

Winter P, Kamm C, Biskup S, Köhler A, Leube B, Auburger G, Gasser T, Benecke R, Müller U. Winter P, et al. Among authors: muller u. Mov Disord. 2012 Dec;27(14):1819-21. doi: 10.1002/mds.25219. Epub 2012 Oct 31. Mov Disord. 2012. PMID: 23115116

2

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.

Steinberger D, Trübenbach J, Zirn B, Leube B, Wildhardt G, Müller U. Steinberger D, et al. Among authors: muller u. Neurogenetics. 2007 Jan;8(1):51-5. doi: 10.1007/s10048-006-0069-6. Epub 2006 Nov 17. Neurogenetics. 2007. PMID: 17111153

3

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.

Weber A, Köhler A, Hahn A, Neubauer B, Müller U. Weber A, et al. Among authors: muller u. Neurogenetics. 2013 Nov;14(3-4):251-3. doi: 10.1007/s10048-013-0376-7. Epub 2013 Oct 8. Neurogenetics. 2013. PMID: 24100940

4

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

5

Familial half cryptic translocation t(9;17).

Köhler A, Hain J, Müller U. Köhler A, et al. Among authors: muller u. J Med Genet. 1994 Sep;31(9):712-4. doi: 10.1136/jmg.31.9.712. J Med Genet. 1994. PMID: 7815441 Free PMC article.

6

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.

Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, Martinius J, Müller U. Steinberger D, et al. Among authors: muller u. Ann Neurol. 1998 May;43(5):634-9. doi: 10.1002/ana.410430512. Ann Neurol. 1998. PMID: 9585358

7

Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.

Köhler A, Hain J, Müller U. Köhler A, et al. Among authors: muller u. Clin Genet. 1995 Mar;47(3):161-4. doi: 10.1111/j.1399-0004.1995.tb03951.x. Clin Genet. 1995. PMID: 7634541

8

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

Herzfeld T, Wolf N, Winter P, Hackstein H, Vater D, Müller U. Herzfeld T, et al. Among authors: muller u. Neurogenetics. 2009 Feb;10(1):59-64. doi: 10.1007/s10048-008-0148-y. Epub 2008 Sep 23. Neurogenetics. 2009. PMID: 18810511

9

Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.

Haberhausen G, Schmitt I, Köhler A, Peters U, Rider S, Chelly J, Terwilliger JD, Monaco AP, Müller U. Haberhausen G, et al. Among authors: muller u. Am J Hum Genet. 1995 Sep;57(3):644-50. Am J Hum Genet. 1995. PMID: 7668293 Free PMC article.

10

8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp.

Weber A, Köhler A, Hahn A, Müller U. Weber A, et al. Among authors: muller u. Mol Cytogenet. 2014 Dec 9;7(1):94. doi: 10.1186/s13039-014-0094-3. eCollection 2014. Mol Cytogenet. 2014. PMID: 25520754 Free PMC article.

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