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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021.
PLoS One. 2021.
PMID: 33534821
Free PMC article.
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.
Heliö K, Kangas-Kontio T, Weckström S, Vanninen SUM, Aalto-Setälä K, Alastalo TP, Myllykangas S, Heliö TM, Koskenvuo JW.
Heliö K, et al. Among authors: weckstrom s.
BMC Med Genet. 2020 Jan 31;21(1):19. doi: 10.1186/s12881-020-0955-z.
BMC Med Genet. 2020.
PMID: 32005173
Free PMC article.
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GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.
Heliö K, Mäyränpää MI, Saarinen I, Ahonen S, Junnila H, Tommiska J, Weckström S, Holmström M, Toivonen M, Nikus K, Hathaway J, Siivonen P, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Heliö T, Koskenvuo J.
Heliö K, et al. Among authors: weckstrom s.
Front Genet. 2021 Nov 25;12:786705. doi: 10.3389/fgene.2021.786705. eCollection 2021.
Front Genet. 2021.
PMID: 34899865
Free PMC article.
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A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Karvonen V, Harjama L, Heliö K, Kettunen K, Elomaa O, Koskenvuo JW, Kere J, Weckström S, Holmström M, Saarela J, Ranki A, Heliö T, Hannula-Jouppi K.
Karvonen V, et al. Among authors: weckstrom s.
J Eur Acad Dermatol Venereol. 2022 Aug;36(8):1349-1358. doi: 10.1111/jdv.18164. Epub 2022 May 6.
J Eur Acad Dermatol Venereol. 2022.
PMID: 35445468
Free PMC article.
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Timing of pacemaker and ICD implantation in LMNA mutation carriers.
Ollila LH, Nikus K, Parikka H, Weckström S, Tiina H.
Ollila LH, et al. Among authors: weckstrom s.
Open Heart. 2021 Apr;8(1):e001622. doi: 10.1136/openhrt-2021-001622.
Open Heart. 2021.
PMID: 33893211
Free PMC article.
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Successful palliative resection of giant epimyocardial lymphatic malformation with 14 years of follow-up: a case report.
Heliö K, Weckström S, Kivistö S, Lohi J, Heliö T.
Heliö K, et al. Among authors: weckstrom s.
BMC Cardiovasc Disord. 2023 Aug 23;23(1):414. doi: 10.1186/s12872-023-03449-8.
BMC Cardiovasc Disord. 2023.
PMID: 37612617
Free PMC article.
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DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma.
Heliö K, Brandt E, Vaara S, Weckström S, Harjama L, Kandolin R, Järviö J, Hannula-Jouppi K, Heliö T, Holmström M, Koskenvuo JW.
Heliö K, et al. Among authors: weckstrom s.
Front Cardiovasc Med. 2023 Mar 15;10:1130903. doi: 10.3389/fcvm.2023.1130903. eCollection 2023.
Front Cardiovasc Med. 2023.
PMID: 37008330
Free PMC article.
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