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

93 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Domínguez-González C, et al. Among authors: engelstad k. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. Ann Neurol. 2019. PMID: 31125140 Free PMC article.
Wolff-Parkinson-White syndrome in Patients With MELAS.
Sproule DM, Kaufmann P, Engelstad K, Starc TJ, Hordof AJ, De Vivo DC. Sproule DM, et al. Among authors: engelstad k. Arch Neurol. 2007 Nov;64(11):1625-7. doi: 10.1001/archneur.64.11.1625. Arch Neurol. 2007. PMID: 17998445
Psychobiological regulation of plasma and saliva GDF15 dynamics in health and mitochondrial diseases.
Huang Q, Trumpff C, Monzel AS, Rausser S, Haahr R, Devine J, Liu CC, Kelly C, Thompson E, Kurade M, Michelson J, Shaulson ED, Li S, Engelstad K, Tanji K, Lauriola V, Wang T, Wang S, Zuraikat FM, St-Onge MP, Kaufman BA, Sloan R, Juster RP, Marsland AL, Gouspillou G, Hirano M, Picard M. Huang Q, et al. Among authors: engelstad k. bioRxiv [Preprint]. 2024 Apr 26:2024.04.19.590241. doi: 10.1101/2024.04.19.590241. bioRxiv. 2024. PMID: 38659958 Free PMC article. Preprint.
Mechanochemically Enabled Metastable Niobium Tungsten Oxides.
Raji-Adefila B, Wang Y, Ding Y, Avdeev M, Outka A, Gonzales H, Engelstad K, Sainio S, Nordlund D, Kan WH, Zhou S, Chen D. Raji-Adefila B, et al. Among authors: engelstad k. J Am Chem Soc. 2024 Apr 17;146(15):10498-10507. doi: 10.1021/jacs.3c14275. Epub 2024 Apr 8. J Am Chem Soc. 2024. PMID: 38590084
Correction to: The evolution of the mitochondrial disease diagnostic odyssey.
Thompson JLP, Karaa A, Pham H, Yeske P, Krischer J, Xiao Y, Long Y, Kramer A, Dimmock D, Holbert A, Gorski C, Engelstad KM, Buchsbaum R, Rosales XQ, Hirano M. Thompson JLP, et al. Among authors: engelstad km. Orphanet J Rare Dis. 2023 Jul 20;18(1):194. doi: 10.1186/s13023-023-02832-0. Orphanet J Rare Dis. 2023. PMID: 37474973 Free PMC article. No abstract available.
The evolution of the mitochondrial disease diagnostic odyssey.
Thompson JLP, Karaa A, Pham H, Yeske P, Krischer J, Xiao Y, Long Y, Kramer A, Dimmock D, Holbert A, Gorski C, Engelstad KM, Buchsbaum R, Rosales XQ, Hirano M. Thompson JLP, et al. Among authors: engelstad km. Orphanet J Rare Dis. 2023 Jun 22;18(1):157. doi: 10.1186/s13023-023-02754-x. Orphanet J Rare Dis. 2023. PMID: 37349818 Free PMC article.
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA. Tayebi N, et al. Among authors: engelstad k. Ann Clin Transl Neurol. 2023 May;10(5):787-801. doi: 10.1002/acn3.51767. Epub 2023 Mar 31. Ann Clin Transl Neurol. 2023. PMID: 37000947 Free PMC article.
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.
Lee BH, Deng S, Chiriboga CA, Kay DM, Irumudomon O, Laureta E, Delfiner L, Treidler SO, Anziska Y, Sakonju A, Kois C, Farooq O, Engelstad K, Laurenzano A, Hogan K, Caggana M, Saavedra-Matiz CA, Stevens CF, Ciafaloni E. Lee BH, et al. Among authors: engelstad k. Neurology. 2022 Oct 3;99(14):e1527-e1537. doi: 10.1212/WNL.0000000000200986. Neurology. 2022. PMID: 35835557 Free PMC article.
93 results