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

16,424 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
Cheng C, Cleak J, Weiss L, Cater H, Stewart M, Wells S, Columbres RC, Shmara A, Morato Torres CA, Zafar F, Schüle B, Neumann J, Hatchwell E, Kimonis V. Cheng C, et al. Orphanet J Rare Dis. 2022 Oct 24;17(1):386. doi: 10.1186/s13023-022-02446-y. Orphanet J Rare Dis. 2022. PMID: 36280881 Free PMC article.
Expression level of R155H mRNA in the knock-in mouse model.
Cheng C, Weiss L, Ta L, Kimonis V. Cheng C, et al. Biochem Biophys Res Commun. 2020 Mar 19;523(4):985-986. doi: 10.1016/j.bbrc.2020.01.021. Epub 2020 Jan 20. Biochem Biophys Res Commun. 2020. PMID: 31973812 No abstract available.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. Kimonis V, et al. Among authors: cheng c. J Med Genet. 2021 May;58(5):314-325. doi: 10.1136/jmedgenet-2020-106846. Epub 2020 Jun 9. J Med Genet. 2021. PMID: 32518176 Free article. Review.
A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6.
Leinonen H, Cheng C, Pitkänen M, Sander CL, Zhang J, Saeid S, Turunen T, Shmara A, Weiss L, Ta L, Ton T, Koskelainen A, Vargas JD, Kimonis V, Palczewski K. Leinonen H, et al. Among authors: cheng c. J Pharmacol Exp Ther. 2021 Jul;378(1):31-41. doi: 10.1124/jpet.120.000486. Epub 2021 Apr 30. J Pharmacol Exp Ther. 2021. PMID: 33931547 Free PMC article.
Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease.
Weiss L, Carrer M, Shmara A, Cheng C, Yin H, Ta L, Boock V, Fazeli Y, Chang M, Paguio M, Lee J, Yu H, Martin A, Raben N, Weiss J, Grossman T, Jafar-Nejad P, Kimonis V. Weiss L, et al. Among authors: cheng c. bioRxiv [Preprint]. 2024 Mar 2:2024.02.22.580414. doi: 10.1101/2024.02.22.580414. bioRxiv. 2024. PMID: 38464319 Free PMC article. Preprint.
16,424 results
You have reached the last available page of results. Please see the User Guide for more information.