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

901 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Leigh syndrome global patient registry: uniting patients and researchers worldwide.
Zilber S, Woleben K, Johnson SC, de Souza CFM, Boyce D, Freiert K, Boggs C, Messahel S, Burnworth MJ, Afolabi TM, Kayani S. Zilber S, et al. Among authors: johnson sc. Orphanet J Rare Dis. 2023 Sep 4;18(1):264. doi: 10.1186/s13023-023-02886-0. Orphanet J Rare Dis. 2023. PMID: 37667390 Free PMC article.
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities.
Cheff DM, Muotri AR, Stockwell BR, Schmidt EE, Ran Q, Kartha RV, Johnson SC, Mittal P, Arnér ESJ, Wigby KM, Hall MD, Ramesh SK. Cheff DM, et al. Among authors: johnson sc. Orphanet J Rare Dis. 2021 Oct 23;16(1):446. doi: 10.1186/s13023-021-02048-0. Orphanet J Rare Dis. 2021. PMID: 34688299 Free PMC article. Review.
mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome.
Johnson SC, Yanos ME, Kayser EB, Quintana A, Sangesland M, Castanza A, Uhde L, Hui J, Wall VZ, Gagnidze A, Oh K, Wasko BM, Ramos FJ, Palmiter RD, Rabinovitch PS, Morgan PG, Sedensky MM, Kaeberlein M. Johnson SC, et al. Science. 2013 Dec 20;342(6165):1524-8. doi: 10.1126/science.1244360. Epub 2013 Nov 14. Science. 2013. PMID: 24231806 Free PMC article.
Peripheral macrophages drive CNS disease in the Ndufs4(-/-) model of Leigh syndrome.
Hanaford AR, Khanna A, Truong V, James K, Chen Y, Mulholland M, Kayser B, Liao RW, Sedensky M, Morgan P, Baertsch NA, Kalia V, Sarkar S, Johnson SC. Hanaford AR, et al. Among authors: johnson sc. Brain Pathol. 2023 Nov;33(6):e13192. doi: 10.1111/bpa.13192. Epub 2023 Aug 8. Brain Pathol. 2023. PMID: 37552802 Free PMC article.
901 results