Krause S - Search Results

1

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.

Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B. Vogt G, et al. Among authors: krause s. J Inherit Metab Dis. 2021 Jul;44(4):972-986. doi: 10.1002/jimd.12341. Epub 2021 Feb 4. J Inherit Metab Dis. 2021. PMID: 33320377 Free PMC article.

2

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.

Krause S, Schlotter-Weigel B, Walter MC, Najmabadi H, Wiendl H, Müller-Höcker J, Müller-Felber W, Pongratz D, Lochmüller H. Krause S, et al. Neuromuscul Disord. 2003 Dec;13(10):830-4. doi: 10.1016/s0960-8966(03)00140-8. Neuromuscul Disord. 2003. PMID: 14678807

3

Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells.

Krause S, Hinderlich S, Amsili S, Horstkorte R, Wiendl H, Argov Z, Mitrani-Rosenbaum S, Lochmüller H. Krause S, et al. Exp Cell Res. 2005 Apr 1;304(2):365-79. doi: 10.1016/j.yexcr.2004.11.010. Epub 2004 Dec 19. Exp Cell Res. 2005. PMID: 15748884

4

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A. Müller JS, et al. Among authors: krause s. Brain. 2006 Oct;129(Pt 10):2784-93. doi: 10.1093/brain/awl188. Epub 2006 Aug 17. Brain. 2006. PMID: 16916845

5

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.

Müller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H. Müller JS, et al. Among authors: krause s. Neurology. 2006 Oct 10;67(7):1159-64. doi: 10.1212/01.wnl.0000233837.79459.40. Epub 2006 Aug 23. Neurology. 2006. PMID: 16931511 Clinical Trial.

6

GNE protein expression and subcellular distribution are unaltered in HIBM.

Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmüller H. Krause S, et al. Neurology. 2007 Aug 14;69(7):655-9. doi: 10.1212/01.wnl.0000267426.97138.fd. Neurology. 2007. PMID: 17698786

7

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.

Garcia-Angarita N, Kirschner J, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu S, Albrecht M, Müller K, Wieczorek D, Lochmüller H, Krause S. Garcia-Angarita N, et al. Among authors: krause s. Neuromuscul Disord. 2009 Jul;19(7):481-4. doi: 10.1016/j.nmd.2009.05.001. Epub 2009 Jun 23. Neuromuscul Disord. 2009. PMID: 19553116

8

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.

Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, Müller-Höcker J, Walter MC, Lochmuller H. Reilich P, et al. Among authors: krause s. Neuromuscul Disord. 2010 Apr;20(4):255-9. doi: 10.1016/j.nmd.2010.01.012. Epub 2010 Feb 19. Neuromuscul Disord. 2010. PMID: 20171888

9

Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.

Stober A, Aleo A, Kuhl V, Bornemann A, Walter MC, Lochmüller H, Lindner A, Krause S. Stober A, et al. Among authors: krause s. Neuromuscul Disord. 2010 May;20(5):335-6. doi: 10.1016/j.nmd.2010.02.013. Epub 2010 Mar 25. Neuromuscul Disord. 2010. PMID: 20346669

10

Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.

Levin J, Bulst S, Thirion C, Schmidt F, Bötzel K, Krause S, Pertl C, Kretzschmar H, Walter MC, Giese A, Lochmüller H. Levin J, et al. Among authors: krause s. J Neuropathol Exp Neurol. 2010 Apr;69(4):415-24. doi: 10.1097/NEN.0b013e3181d71305. J Neuropathol Exp Neurol. 2010. PMID: 20448486

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,054 results

Search Page

Filters