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

56 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH; University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network; Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA. Blue EE, et al. Among authors: reisdorph r. Rare. 2024;2:100040. doi: 10.1016/j.rare.2024.100040. Epub 2024 Aug 14. Rare. 2024. PMID: 39421685 Free PMC article.
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Van Hove JLK, Friederich MW, Hock DH, Stroud DA, Caruana NJ, Christians U, Schniedewind B, Michel CR, Reisdorph R, Lopez Gonzalez EDJ, Brenner C, Donovan TE, Lee JC, Chatfield KC, Larson AA, Baker PR 2nd, McCandless SE, Moore Burk MF. Van Hove JLK, et al. Among authors: reisdorph r. Mitochondrion. 2024 Sep;78:101905. doi: 10.1016/j.mito.2024.101905. Epub 2024 May 24. Mitochondrion. 2024. PMID: 38797357
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.
Starosta RT, Larson AA, Meeks NJL, Gracie S, Friederich MW, Gaughan SM, Baker PR 2nd, Knupp KG, Michel CR, Reisdorph R, Hock DH, Stroud DA, Wood T, Van Hove JLK. Starosta RT, et al. Among authors: reisdorph r. Mitochondrion. 2024 Nov;79:101973. doi: 10.1016/j.mito.2024.101973. Epub 2024 Oct 15. Mitochondrion. 2024. PMID: 39413893
Acetylation of proximal cysteine-lysine pairs by alcohol metabolism.
McGinnis CD, Harris PS, Graham BIM, Marentette JO, Michel CR, Saba LM, Reisdorph R, Roede JR, Fritz KS. McGinnis CD, et al. Among authors: reisdorph r. Redox Biol. 2025 Feb;79:103462. doi: 10.1016/j.redox.2024.103462. Epub 2024 Dec 12. Redox Biol. 2025. PMID: 39729908 Free PMC article.
Appearance of green tea compounds in plasma following acute green tea consumption is modulated by the gut microbiome in mice.
Sterrett JD, Quinn KD, Doenges KA, Nusbacher NM, Levens CL, Armstrong ML, Reisdorph RM, Smith H, Saba LM, Kuhn KA, Lozupone CA, Reisdorph NA. Sterrett JD, et al. Among authors: reisdorph rm. Microbiol Spectr. 2025 Jan 10:e0179924. doi: 10.1128/spectrum.01799-24. Online ahead of print. Microbiol Spectr. 2025. PMID: 39791884 Free article.
Appearance of green tea compounds in plasma following acute green tea consumption is modulated by the gut microbiome in mice.
Sterrett JD, Quinn KD, Doenges KA, Nusbacher NM, Levens CL, Armstrong ML, Reisdorph RM, Smith H, Saba LM, Kuhn KA, Lozupone CA, Reisdorph NA. Sterrett JD, et al. Among authors: reisdorph rm. bioRxiv [Preprint]. 2024 Nov 13:2024.07.11.603097. doi: 10.1101/2024.07.11.603097. bioRxiv. 2024. Update in: Microbiol Spectr. 2025 Jan 10:e0179924. doi: 10.1128/spectrum.01799-24 PMID: 39605610 Free PMC article. Updated. Preprint.
56 results