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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 3
2006 3
2007 2
2008 3
2009 4
2010 8
2011 5
2012 5
2013 6
2014 9
2015 5
2016 4
2017 4
2018 3
2019 3
2020 8
2021 11
2022 8
2023 5
2024 3

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94 results

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Page 1
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: ottenheijm cac. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017
Inspiratory Muscle Training in Nemaline Myopathy.
van Kleef ESB, Langer D, van Engelen BGM, Ottenheijm CAC, Voermans NC, Doorduin J. van Kleef ESB, et al. Among authors: ottenheijm cac. J Neuromuscul Dis. 2023;10(5):825-834. doi: 10.3233/JND-221665. J Neuromuscul Dis. 2023. PMID: 37458044 Free PMC article.
Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
Landim-Vieira M, Ma W, Song T, Rastegarpouyani H, Gong H, Coscarella IL, Bogaards SJP, Conijn SP, Ottenheijm CAC, Hwang HS, Papadaki M, Knollmann BC, Sadayappan S, Irving TC, Galkin VE, Chase PB, Pinto JR. Landim-Vieira M, et al. Among authors: ottenheijm cac. Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2221244120. doi: 10.1073/pnas.2221244120. Epub 2023 May 30. Proc Natl Acad Sci U S A. 2023. PMID: 37252999 Free PMC article.
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.
94 results