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

109 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males.
Rydzanicz M, Kuzniewska B, Magnowska M, Wójtowicz T, Stawikowska A, Hojka A, Borsuk E, Meyza K, Gewartowska O, Gruchota J, Miłek J, Wardaszka P, Chojnicka I, Kondrakiewicz L, Dymkowska D, Puścian A, Knapska E, Dziembowski A, Płoski R, Dziembowska M. Rydzanicz M, et al. Among authors: dziembowski a. EMBO Mol Med. 2024 Nov;16(11):2976-3004. doi: 10.1038/s44321-024-00147-6. Epub 2024 Sep 27. EMBO Mol Med. 2024. PMID: 39333440 Free PMC article.
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, Kłosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmieć T, Jakubowski R, Gasperowicz P, Walczak A, Śladowski D, Jankowska-Steifer E, Korniszewski L, Kosińska J, Obersztyn E, Nowak W, Śledziński T, Dziembowski A, Płoski R. Kutkowska-Kaźmierczak A, et al. Among authors: dziembowski a. J Med Genet. 2018 Jun;55(6):408-414. doi: 10.1136/jmedgenet-2017-105172. Epub 2018 Mar 1. J Med Genet. 2018. PMID: 29496980
Terminal nucleotidyl transferases (TENTs) in mammalian RNA metabolism.
Warkocki Z, Liudkovska V, Gewartowska O, Mroczek S, Dziembowski A. Warkocki Z, et al. Among authors: dziembowski a. Philos Trans R Soc Lond B Biol Sci. 2018 Nov 5;373(1762):20180162. doi: 10.1098/rstb.2018.0162. Philos Trans R Soc Lond B Biol Sci. 2018. PMID: 30397099 Free PMC article. Review.
Mitochondrial protein biogenesis in the synapse is supported by local translation.
Kuzniewska B, Cysewski D, Wasilewski M, Sakowska P, Milek J, Kulinski TM, Winiarski M, Kozielewicz P, Knapska E, Dadlez M, Chacinska A, Dziembowski A, Dziembowska M. Kuzniewska B, et al. Among authors: dziembowski a. EMBO Rep. 2020 Aug 5;21(8):e48882. doi: 10.15252/embr.201948882. Epub 2020 Jun 18. EMBO Rep. 2020. PMID: 32558077 Free PMC article.
109 results