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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

382 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.
Saffari A, Niesert M, Cannet C, Blaschek A, Hahn A, Johannsen J, Kockaya M, Kölbel H, Hoffmann GF, Claus P, Kölker S, Müller-Felber W, Roos A, Schara-Schmidt U, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A. Saffari A, et al. Among authors: claus p. Int J Mol Sci. 2024 Nov 12;25(22):12123. doi: 10.3390/ijms252212123. Int J Mol Sci. 2024. PMID: 39596191 Free PMC article.
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, Al Rayes S, Hensel N, Schill Y, Apkhazava D, Jablonka S, O'mer J, Srivastav RK, Baasner A, Lingor P, Wirth B, Ponimaskin E, Niedenthal R, Grothe C, Claus P. Nölle A, et al. Among authors: claus p. Hum Mol Genet. 2011 Dec 15;20(24):4865-78. doi: 10.1093/hmg/ddr425. Epub 2011 Sep 14. Hum Mol Genet. 2011. PMID: 21920940
The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy.
Tapken I, Schweitzer T, Paganin M, Schüning T, Detering NT, Sharma G, Niesert M, Saffari A, Kuhn D, Glynn A, Cieri F, Santonicola P, Cannet C, Gerstner F, Faller KME, Huang YT, Kothary R, Gillingwater TH, Di Schiavi E, Simon CM, Hensel N, Ziegler A, Viero G, Pich A, Claus P. Tapken I, et al. Among authors: claus p. Brain. 2024 Aug 26:awae272. doi: 10.1093/brain/awae272. Online ahead of print. Brain. 2024. PMID: 39183150
The spinal muscular atrophy gene product regulates actin dynamics.
Schüning T, Zeug A, Strienke K, Franz P, Tsiavaliaris G, Hensel N, Viero G, Ponimaskin E, Claus P. Schüning T, et al. Among authors: claus p. FASEB J. 2024 Sep 30;38(18):e70055. doi: 10.1096/fj.202300183R. FASEB J. 2024. PMID: 39305126
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.
Deguise MO, Baranello G, Mastella C, Beauvais A, Michaud J, Leone A, De Amicis R, Battezzati A, Dunham C, Selby K, Warman Chardon J, McMillan HJ, Huang YT, Courtney NL, Mole AJ, Kubinski S, Claus P, Murray LM, Bowerman M, Gillingwater TH, Bertoli S, Parson SH, Kothary R. Deguise MO, et al. Among authors: claus p. Ann Clin Transl Neurol. 2019 Aug;6(8):1519-1532. doi: 10.1002/acn3.50855. Epub 2019 Jul 26. Ann Clin Transl Neurol. 2019. PMID: 31402618 Free PMC article.
382 results