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RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
Circulation. 2018 Sep 25;138(13):1330-1342. doi: 10.1161/CIRCULATIONAHA.117.031947.
Circulation. 2018.
PMID: 29650543
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
Jansweijer JA, Nieuwhof K, Russo F, Hoorntje ET, Jongbloed JD, Lekanne Deprez RH, Postma AV, Bronk M, van Rijsingen IA, de Haij S, Biagini E, van Haelst PL, van Wijngaarden J, van den Berg MP, Wilde AA, Mannens MM, de Boer RA, van Spaendonck-Zwarts KY, van Tintelen JP, Pinto YM.
Jansweijer JA, et al.
Eur J Heart Fail. 2017 Apr;19(4):512-521. doi: 10.1002/ejhf.673. Epub 2016 Nov 3.
Eur J Heart Fail. 2017.
PMID: 27813223
Free article.
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Heritability in genetic heart disease: the role of genetic background.
Jansweijer JA, van Spaendonck-Zwarts KY, Tanck MWT, van Tintelen JP, Christiaans I, van der Smagt J, Vermeer A, Bos JM, Moss AJ, Swan H, Priori SG, Rydberg A, Tfelt-Hansen J, Ackerman MJ, Olivotto I, Charron P, Gimeno JR, van den Berg M, Wilde AAM, Pinto YM.
Jansweijer JA, et al.
Open Heart. 2019 May 28;6(1):e000929. doi: 10.1136/openhrt-2018-000929. eCollection 2019.
Open Heart. 2019.
PMID: 31245010
Free PMC article.
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A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits.
Nolte IM, Jansweijer JA, Riese H, Asselbergs FW, van der Harst P, Spector TD, Pinto YM, Snieder H, Jamshidi Y.
Nolte IM, et al. Among authors: jansweijer ja.
Twin Res Hum Genet. 2017 Dec;20(6):489-498. doi: 10.1017/thg.2017.55. Epub 2017 Oct 17.
Twin Res Hum Genet. 2017.
PMID: 29039294
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Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Hoorntje ET, Bollen IA, Barge-Schaapveld DQ, van Tienen FH, Te Meerman GJ, Jansweijer JA, van Essen AJ, Volders PG, Constantinescu AA, van den Akker PC, van Spaendonck-Zwarts KY, Oldenburg RA, Marcelis CL, van der Smagt JJ, Hennekam EA, Vink A, Bootsma M, Aten E, Wilde AA, van den Wijngaard A, Broers JL, Jongbloed JD, van der Velden J, van den Berg MP, van Tintelen JP.
Hoorntje ET, et al. Among authors: jansweijer ja.
Circ Cardiovasc Genet. 2017 Aug;10(4):e001631. doi: 10.1161/CIRCGENETICS.116.001631.
Circ Cardiovasc Genet. 2017.
PMID: 28790152
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Tricky ticks: the importance of Lyme carditis recognition.
Jansweijer JA, van Oort RJ.
Jansweijer JA, et al.
Neth Heart J. 2015 Nov;23(11):531-2. doi: 10.1007/s12471-015-0745-y.
Neth Heart J. 2015.
PMID: 26353768
Free PMC article.
No abstract available.
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European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology.
Elliott P, Charron P, Blanes JR, Tavazzi L, Tendera M, Konté M, Laroche C, Maggioni AP; EORP Cardiomyopathy Registry Pilot Investigators.
Elliott P, et al.
Eur Heart J. 2016 Jan 7;37(2):164-73. doi: 10.1093/eurheartj/ehv497. Epub 2015 Sep 25.
Eur Heart J. 2016.
PMID: 26409010
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Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.
Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J, McDermott CJ, Wharton SB, Shaw PJ, Ince PG.
Highley JR, et al. Among authors: jansweijer ja.
Neuropathol Appl Neurobiol. 2014 Oct;40(6):670-85. doi: 10.1111/nan.12148.
Neuropathol Appl Neurobiol. 2014.
PMID: 24750229
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