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

295 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Echocardiography in inflammatory heart disease: A comparison of giant cell myocarditis, cardiac sarcoidosis, and acute non-fulminant myocarditis.
Bobbio E, Amundsen J, Oldfors A, Bollano E, Bergh N, Björkenstam M, Astengo M, Karason K, Gao SA, Polte CL. Bobbio E, et al. Among authors: oldfors a. Int J Cardiol Heart Vasc. 2023 Apr 7;46:101202. doi: 10.1016/j.ijcha.2023.101202. eCollection 2023 Jun. Int J Cardiol Heart Vasc. 2023. PMID: 37091913 Free PMC article.
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.
Hedberg-Oldfors C, Mitra S, Molinaro A, Visuttijai K, Fogelstrand L, Oldfors A, Sterky FH, Darin N. Hedberg-Oldfors C, et al. Among authors: oldfors a. Eur J Hum Genet. 2023 Aug;31(8):887-894. doi: 10.1038/s41431-023-01327-7. Epub 2023 Mar 20. Eur J Hum Genet. 2023. PMID: 36935417 Free PMC article.
272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands.
Lilleker JB, Naddaf E, Saris CGJ, Schmidt J, de Visser M, Weihl CC; 272nd ENMC workshop participants. Lilleker JB, et al. Neuromuscul Disord. 2024 Apr;37:36-51. doi: 10.1016/j.nmd.2024.03.001. Epub 2024 Mar 7. Neuromuscul Disord. 2024. PMID: 38522330
New mutations identified in a case of Glycogenin-1 deficiency.
Pruvost R, Csanyi M, Lefebvre G, Biancalana V, Malfatti E, Cassim F, Oldfors C, Defebvre L, Oldfors A, Tard C. Pruvost R, et al. Among authors: oldfors a. Mol Genet Metab Rep. 2024 Jan 3;38:101046. doi: 10.1016/j.ymgmr.2023.101046. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38234863 Free PMC article. No abstract available.
Commentary from the Editor.
Oldfors A. Oldfors A. Neuromuscul Disord. 2024 Jan;34:123-125. doi: 10.1016/j.nmd.2023.12.013. Epub 2023 Dec 22. Neuromuscul Disord. 2024. PMID: 38199149 No abstract available.
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington G, Hau A, Kosta S, Dugdale HF, Muntoni F, D'Amico A, Van den Bergh P, Romero NB, Malfatti E, Vilchez JJ, Oldfors A, Pajusalu S, Õunap K, Giralt-Pujol M, Zanoteli E, Campbell KS, Iwamoto H, Peckham M, Ochala J. Carrington G, et al. Among authors: oldfors a. JCI Insight. 2023 Nov 8;8(21):e172322. doi: 10.1172/jci.insight.172322. JCI Insight. 2023. PMID: 37788100 Free PMC article.
295 results