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Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
J Clin Med. 2020 Mar 29;9(4):937. doi: 10.3390/jcm9040937.
J Clin Med. 2020.
PMID: 32235386
Free PMC article.
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.
Brodehl A, Pour Hakimi SA, Stanasiuk C, Ratnavadivel S, Hendig D, Gaertner A, Gerull B, Gummert J, Paluszkiewicz L, Milting H.
Brodehl A, et al. Among authors: ratnavadivel s.
Genes (Basel). 2019 Nov 11;10(11):918. doi: 10.3390/genes10110918.
Genes (Basel). 2019.
PMID: 31718026
Free PMC article.
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The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
Protonotarios A, Brodehl A, Asimaki A, Jager J, Quinn E, Stanasiuk C, Ratnavadivel S, Futema M, Akhtar MM, Gossios TD, Ashworth M, Savvatis K, Walhorn V, Anselmetti D, Elliott PM, Syrris P, Milting H, Lopes LR.
Protonotarios A, et al. Among authors: ratnavadivel s.
Can J Cardiol. 2021 Jun;37(6):857-866. doi: 10.1016/j.cjca.2020.11.017. Epub 2020 Dec 5.
Can J Cardiol. 2021.
PMID: 33290826
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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A, Ebbinghaus H, Deutsch MA, Gummert J, Gärtner A, Ratnavadivel S, Milting H.
Brodehl A, et al. Among authors: ratnavadivel s.
Int J Mol Sci. 2019 Sep 6;20(18):4381. doi: 10.3390/ijms20184381.
Int J Mol Sci. 2019.
PMID: 31489928
Free PMC article.
Review.
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The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3.
Brodehl A, Hain C, Flottmann F, Ratnavadivel S, Gaertner A, Klauke B, Kalinowski J, Körperich H, Gummert J, Paluszkiewicz L, Deutsch MA, Milting H.
Brodehl A, et al. Among authors: ratnavadivel s.
Biomedicines. 2021 Oct 5;9(10):1400. doi: 10.3390/biomedicines9101400.
Biomedicines. 2021.
PMID: 34680517
Free PMC article.
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Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L.
Ratnavadivel S, Szymanski de Toledo M, Rasmussen TB, Šarić T, Gummert J, Zenke M, Milting H.
Ratnavadivel S, et al.
Stem Cell Res. 2020 Oct;48:101957. doi: 10.1016/j.scr.2020.101957. Epub 2020 Aug 19.
Stem Cell Res. 2020.
PMID: 32858485
Free article.
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A Drosophila melanogaster model for TMEM43-related arrhythmogenic right ventricular cardiomyopathy type 5.
Klinke N, Meyer H, Ratnavadivel S, Reinhardt M, Heinisch JJ, Malmendal A, Milting H, Paululat A.
Klinke N, et al. Among authors: ratnavadivel s.
Cell Mol Life Sci. 2022 Jul 22;79(8):444. doi: 10.1007/s00018-022-04458-0.
Cell Mol Life Sci. 2022.
PMID: 35869176
Free PMC article.
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Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9.
Ratnavadivel S, Dammeier J, Gaertner A, de Toledo MAS, Zenke M, Gummert J, Bloch Rasmussen T, Klinke N, Jürgens K, Meyer H, Paululat A, Milting H.
Ratnavadivel S, et al.
Stem Cell Res. 2024 Apr;76:103354. doi: 10.1016/j.scr.2024.103354. Epub 2024 Feb 17.
Stem Cell Res. 2024.
PMID: 38430734
Free article.
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