Cited by

• Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.

  Pagola-Lorz I, Vicente E, Ibáñez B, Torné L, Elizalde-Beiras I, Garcia-Solaesa V, García F, Delfrade J, Jericó I. Pagola-Lorz I, et al. Orphanet J Rare Dis. 2019 Dec 2;14(1):276. doi: 10.1186/s13023-019-1227-x. Orphanet J Rare Dis. 2019. PMID: 31791368 Free PMC article. Review.
• Translational medicine in neuromuscular disorders: from academia to industry.

  Cowling BS, Thielemans L. Cowling BS, et al. Dis Model Mech. 2019 Oct 24;13(2):dmm041434. doi: 10.1242/dmm.041434. Dis Model Mech. 2019. PMID: 31658990 Free PMC article. Review.
• Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.

  Kiselev A, Vaz R, Knyazeva A, Sergushichev A, Dmitrieva R, Khudiakov A, Jorholt J, Smolina N, Sukhareva K, Fomicheva Y, Mikhaylov E, Mitrofanova L, Predeus A, Sjoberg G, Rudenko D, Sejersen T, Lindstrand A, Kostareva A. Kiselev A, et al. Front Genet. 2019 Jun 26;10:608. doi: 10.3389/fgene.2019.00608. eCollection 2019. Front Genet. 2019. PMID: 31297131 Free PMC article.
• Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

  Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827497 Free PMC article.
• Duchenne Muscular Dystrophy Patient iPSCs-Derived Skeletal Muscle Organoids Exhibit a Developmental Delay in Myogenic Progenitor Maturation.

  Kindler U, Mavrommatis L, Käppler F, Hiluf DG, Heilmann-Heimbach S, Marcus K, Günther Pomorski T, Vorgerd M, Brand-Saberi B, Zaehres H. Kindler U, et al. Cells. 2025 Jul 7;14(13):1033. doi: 10.3390/cells14131033. Cells. 2025. PMID: 40643552 Free PMC article.