Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

220 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Pathological manifestations of Farber disease in a new mouse model.
Beckmann N, Kadow S, Schumacher F, Göthert JR, Kesper S, Draeger A, Schulz-Schaeffer WJ, Wang J, Becker JU, Kramer M, Kühn C, Kleuser B, Becker KA, Gulbins E, Carpinteiro A. Beckmann N, et al. Biol Chem. 2018 Sep 25;399(10):1183-1202. doi: 10.1515/hsz-2018-0170. Biol Chem. 2018. PMID: 29908121 Free article.
Acid Sphingomyelinase Deficiency Ameliorates Farber Disease.
Beckmann N, Becker KA, Kadow S, Schumacher F, Kramer M, Kühn C, Schulz-Schaeffer WJ, Edwards MJ, Kleuser B, Gulbins E, Carpinteiro A. Beckmann N, et al. Int J Mol Sci. 2019 Dec 11;20(24):6253. doi: 10.3390/ijms20246253. Int J Mol Sci. 2019. PMID: 31835809 Free PMC article.
TorsinA expression is detectable in human infants as young as 4 weeks old.
Siegert S, Bahn E, Kramer ML, Schulz-Schaeffer WJ, Hewett JW, Breakefield XO, Hedreen JC, Rostasy KM. Siegert S, et al. Brain Res Dev Brain Res. 2005 Jun 9;157(1):19-26. doi: 10.1016/j.devbrainres.2005.02.019. Epub 2005 Apr 9. Brain Res Dev Brain Res. 2005. PMID: 15939081
TorsinB expression in the developing human brain.
Bahn E, Siegert S, Pfander T, Kramer ML, Schulz-Schaeffer WJ, Hewett JW, Breakefield XO, Hedreen JC, Rostásy KM. Bahn E, et al. Brain Res. 2006 Oct 20;1116(1):112-9. doi: 10.1016/j.brainres.2006.07.102. Epub 2006 Aug 30. Brain Res. 2006. PMID: 16938275
Burial of the polymorphic residue 129 in amyloid fibrils of prion stop mutants.
Skora L, Fonseca-Ornelas L, Hofele RV, Riedel D, Giller K, Watzlawik J, Schulz-Schaeffer WJ, Urlaub H, Becker S, Zweckstetter M. Skora L, et al. J Biol Chem. 2013 Feb 1;288(5):2994-3002. doi: 10.1074/jbc.M112.423715. Epub 2012 Dec 3. J Biol Chem. 2013. PMID: 23209282 Free PMC article.
220 results