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

134 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Actin maturation requires the ACTMAP/C19orf54 protease.
Haahr P, Galli RA, van den Hengel LG, Bleijerveld OB, Kazokaitė-Adomaitienė J, Song JY, Kroese LJ, Krimpenfort P, Baltissen MP, Vermeulen M, Ottenheijm CAC, Brummelkamp TR. Haahr P, et al. Among authors: ottenheijm cac. Science. 2022 Sep 30;377(6614):1533-1537. doi: 10.1126/science.abq5082. Epub 2022 Sep 29. Science. 2022. PMID: 36173861
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Cardone N, Moula M, Baelde RJ, Biquand A, Villanova M, Metay C, Fiorillo C, Baratto S, Merlini L, Sabatelli P, Romero NB, Relaix F, Authier FJ, Taglietti V, Savarese M, de Winter J, Ottenheijm C, Richard I, Malfatti E. Cardone N, et al. Acta Neuropathol Commun. 2023 Mar 21;11(1):48. doi: 10.1186/s40478-023-01539-4. Acta Neuropathol Commun. 2023. PMID: 36945066 Free PMC article.
A bright light on myosin to study skeletal muscle relaxation.
Galli RA, Ottenheijm CAC. Galli RA, et al. Among authors: ottenheijm cac. J Physiol. 2020 Nov;598(22):5001-5002. doi: 10.1113/JP280664. Epub 2020 Oct 1. J Physiol. 2020. PMID: 32954503 Free PMC article. No abstract available.
KBTBD13 is a novel cardiomyopathy gene.
de Winter JM, Bouman K, Strom J, Methawasin M, Jongbloed JDH, van der Roest W, Wijngaarden JV, Timmermans J, Nijveldt R, van den Heuvel F, Kamsteeg EJ, van Engelen BG, Galli R, Bogaards SJP, Boon RA, van der Pijl RJ, Granzier H, Koeleman B, Amin AS, van der Velden J, van Tintelen JP, van den Berg MP, van Spaendonck-Zwarts KY, Voermans NC, Ottenheijm CAC. de Winter JM, et al. Among authors: ottenheijm cac. Hum Mutat. 2022 Dec;43(12):1860-1865. doi: 10.1002/humu.24499. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36335629 Free PMC article.
Mutation-specific effects on thin filament length in thin filament myopathy.
Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA. Winter JM, et al. Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30. Ann Neurol. 2016. PMID: 27074222 Free PMC article.
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.
de Winter JM, Gineste C, Minardi E, Brocca L, Rossi M, Borsboom T, Beggs AH, Bernard M, Bendahan D, Hwee DT, Malik FI, Pellegrino MA, Bottinelli R, Gondin J, Ottenheijm CAC. de Winter JM, et al. Among authors: ottenheijm cac. Hum Mol Genet. 2021 Jun 26;30(14):1305-1320. doi: 10.1093/hmg/ddab112. Hum Mol Genet. 2021. PMID: 33909041 Free PMC article.
134 results