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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Koskenvuo JW, Saarinen I, Ahonen S, Tommiska J, Weckström S, Seppälä EH, Tuupanen S, Kangas-Kontio T, Schleit J, Heliö K, Hathaway J, Gummesson A, Dahlberg P, Ojala TH, Vepsäläinen V, Kytölä V, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Heliö T. Koskenvuo JW, et al. Among authors: ahonen s. PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021. PLoS One. 2021. PMID: 33534821 Free PMC article.
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: ahonen s. Front Genet. 2021 Nov 25;12:786705. doi: 10.3389/fgene.2021.786705. eCollection 2021. Front Genet. 2021. PMID: 34899865 Free PMC article.
A novel form of progressive retinal atrophy in Swedish vallhund dogs.
Cooper AE, Ahonen S, Rowlan JS, Duncan A, Seppälä EH, Vanhapelto P, Lohi H, Komáromy AM. Cooper AE, et al. Among authors: ahonen s. PLoS One. 2014 Sep 8;9(9):e106610. doi: 10.1371/journal.pone.0106610. eCollection 2014. PLoS One. 2014. PMID: 25198798 Free PMC article.
142 results