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397 results

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Page 1
A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.
Schirmer I, Dieding M, Klauke B, Brodehl A, Gaertner-Rommel A, Walhorn V, Gummert J, Schulz U, Paluszkiewicz L, Anselmetti D, Milting H. Schirmer I, et al. Among authors: schulz u. Mol Genet Genomic Med. 2018 Mar;6(2):288-293. doi: 10.1002/mgg3.358. Epub 2017 Dec 23. Mol Genet Genomic Med. 2018. PMID: 29274115 Free PMC article.
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
Brodehl A, Dieding M, Biere N, Unger A, Klauke B, Walhorn V, Gummert J, Schulz U, Linke WA, Gerull B, Vorgert M, Anselmetti D, Milting H. Brodehl A, et al. Among authors: schulz u. J Mol Cell Cardiol. 2016 Feb;91:207-14. doi: 10.1016/j.yjmcc.2015.12.015. Epub 2015 Dec 23. J Mol Cell Cardiol. 2016. PMID: 26724190
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
Brodehl A, Gaertner-Rommel A, Klauke B, Grewe SA, Schirmer I, Peterschröder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, Paluszkiewicz L, Milting H. Brodehl A, et al. Among authors: schulz u. Hum Mutat. 2017 Aug;38(8):947-952. doi: 10.1002/humu.23248. Epub 2017 Jun 21. Hum Mutat. 2017. PMID: 28493373
Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.
Gaertner-Rommel A, Tiesmeier J, Jakob T, Strickmann B, Veit G, Bachmann-Mennenga B, Paluszkiewicz L, Klingel K, Schulz U, Laser KT, Karger B, Pfeiffer H, Milting H. Gaertner-Rommel A, et al. Among authors: schulz u. Mol Genet Genomic Med. 2019 Aug;7(8):e841. doi: 10.1002/mgg3.841. Epub 2019 Jul 10. Mol Genet Genomic Med. 2019. PMID: 31293105 Free PMC article.
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B, Gaertner-Rommel A, Schulz U, Kassner A, Zu Knyphausen E, Laser T, Kececioglu D, Paluszkiewicz L, Blanz U, Sandica E, van den Bogaerdt AJ, van Tintelen JP, Gummert J, Milting H. Klauke B, et al. Among authors: schulz u. PLoS One. 2017 Dec 18;12(12):e0189489. doi: 10.1371/journal.pone.0189489. eCollection 2017. PLoS One. 2017. PMID: 29253866 Free PMC article.
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A, Klauke B, Felski E, Kassner A, Brodehl A, Gerdes D, Stanasiuk C, Ebbinghaus H, Schulz U, Dubowy KO, Tiesmeier J, Laser KT, Bante H, Bergau L, Sommer P, Fox H, Morshuis M, Gummert J, Milting H. Gaertner A, et al. Among authors: schulz u. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. Brodehl A, et al. Among authors: schulz u. Circ Cardiovasc Genet. 2013 Dec;6(6):615-23. doi: 10.1161/CIRCGENETICS.113.000103. Epub 2013 Nov 7. Circ Cardiovasc Genet. 2013. PMID: 24200904 Free article.
397 results