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

425 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Knierim E, et al. Among authors: seifert f. Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924529 Free PMC article.
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.
Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Schottmann G, et al. Among authors: seifert f. Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568292
Cavin 1 function does not follow caveolar morphology.
Timmel T, Kunz S, Seifert F, Schuelke M, Spuler S. Timmel T, et al. Among authors: seifert f. Am J Physiol Cell Physiol. 2015 Jun 15;308(12):C1023-30. doi: 10.1152/ajpcell.00329.2014. Epub 2015 Apr 22. Am J Physiol Cell Physiol. 2015. PMID: 25904680 Free article.
Live-imaging of revertant and therapeutically restored dystrophin in the DmdEGFP-mdx mouse model for Duchenne muscular dystrophy.
Petkova MV, Stantzou A, Morin A, Petrova O, Morales-Gonzalez S, Seifert F, Bellec-Dyevre J, Manoliu T, Goyenvalle A, Garcia L, Richard I, Laplace-Builhé C, Schuelke M, Amthor H. Petkova MV, et al. Among authors: seifert f. Neuropathol Appl Neurobiol. 2020 Oct;46(6):602-614. doi: 10.1111/nan.12639. Epub 2020 Jul 27. Neuropathol Appl Neurobiol. 2020. PMID: 32573804 Free article.
425 results