1192 related articles for article (PubMed ID: 29212896)
1. Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
Bermúdez-Jiménez FJ; Carriel V; Brodehl A; Alaminos M; Campos A; Schirmer I; Milting H; Abril BÁ; Álvarez M; López-Fernández S; García-Giustiniani D; Monserrat L; Tercedor L; Jiménez-Jáimez J
Circulation; 2018 Apr; 137(15):1595-1610. PubMed ID: 29212896
[TBL] [Abstract][Full Text] [Related]
2. Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.
Otten E; Asimaki A; Maass A; van Langen IM; van der Wal A; de Jonge N; van den Berg MP; Saffitz JE; Wilde AA; Jongbloed JD; van Tintelen JP
Heart Rhythm; 2010 Aug; 7(8):1058-64. PubMed ID: 20423733
[TBL] [Abstract][Full Text] [Related]
3. 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
Circ Cardiovasc Genet; 2013 Dec; 6(6):615-23. PubMed ID: 24200904
[TBL] [Abstract][Full Text] [Related]
4. Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.
Forleo C; Carmosino M; Resta N; Rampazzo A; Valecce R; Sorrentino S; Iacoviello M; Pisani F; Procino G; Gerbino A; Scardapane A; Simone C; Calore M; Torretta S; Svelto M; Favale S
PLoS One; 2015; 10(4):e0121723. PubMed ID: 25837155
[TBL] [Abstract][Full Text] [Related]
5. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen JP; Van Gelder IC; Asimaki A; Suurmeijer AJ; Wiesfeld AC; Jongbloed JD; van den Wijngaard A; Kuks JB; van Spaendonck-Zwarts KY; Notermans N; Boven L; van den Heuvel F; Veenstra-Knol HE; Saffitz JE; Hofstra RM; van den Berg MP
Heart Rhythm; 2009 Nov; 6(11):1574-83. PubMed ID: 19879535
[TBL] [Abstract][Full Text] [Related]
6. 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
J Mol Cell Cardiol; 2016 Feb; 91():207-14. PubMed ID: 26724190
[TBL] [Abstract][Full Text] [Related]
7. Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.
Fischer B; Dittmann S; Brodehl A; Unger A; Stallmeyer B; Paul M; Seebohm G; Kayser A; Peischard S; Linke WA; Milting H; Schulze-Bahr E
Int J Cardiol; 2021 Apr; 329():167-174. PubMed ID: 33373648
[TBL] [Abstract][Full Text] [Related]
8. Desmin-related myopathy.
van Spaendonck-Zwarts KY; van Hessem L; Jongbloed JD; de Walle HE; Capetanaki Y; van der Kooi AJ; van Langen IM; van den Berg MP; van Tintelen JP
Clin Genet; 2011 Oct; 80(4):354-66. PubMed ID: 20718792
[TBL] [Abstract][Full Text] [Related]
9. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
Klauke B; Kossmann S; Gaertner A; Brand K; Stork I; Brodehl A; Dieding M; Walhorn V; Anselmetti D; Gerdes D; Bohms B; Schulz U; Zu Knyphausen E; Vorgerd M; Gummert J; Milting H
Hum Mol Genet; 2010 Dec; 19(23):4595-607. PubMed ID: 20829228
[TBL] [Abstract][Full Text] [Related]
10. 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
Can J Cardiol; 2021 Jun; 37(6):857-866. PubMed ID: 33290826
[TBL] [Abstract][Full Text] [Related]
11. 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
Mol Genet Genomic Med; 2018 Mar; 6(2):288-293. PubMed ID: 29274115
[TBL] [Abstract][Full Text] [Related]
12. The Desmin (
Kulikova O; Brodehl A; Kiseleva A; Myasnikov R; Meshkov A; Stanasiuk C; Gärtner A; Divashuk M; Sotnikova E; Koretskiy S; Kharlap M; Kozlova V; Mershina E; Pilus P; Sinitsyn V; Milting H; Boytsov S; Drapkina O
Genes (Basel); 2021 Jan; 12(1):. PubMed ID: 33478057
[TBL] [Abstract][Full Text] [Related]
13. Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy.
Bao J; Wang J; Yao Y; Wang Y; Fan X; Sun K; He DS; Marcus FI; Zhang S; Hui R; Song L
Circ Cardiovasc Genet; 2013 Dec; 6(6):552-6. PubMed ID: 24125834
[TBL] [Abstract][Full Text] [Related]
14. Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.
Lorenzon A; Beffagna G; Bauce B; De Bortoli M; Li Mura IE; Calore M; Dazzo E; Basso C; Nava A; Thiene G; Rampazzo A
Am J Cardiol; 2013 Feb; 111(3):400-5. PubMed ID: 23168288
[TBL] [Abstract][Full Text] [Related]
15. Prevalence of desmin mutations in dilated cardiomyopathy.
Taylor MR; Slavov D; Ku L; Di Lenarda A; Sinagra G; Carniel E; Haubold K; Boucek MM; Ferguson D; Graw SL; Zhu X; Cavanaugh J; Sucharov CC; Long CS; Bristow MR; Lavori P; Mestroni L; ;
Circulation; 2007 Mar; 115(10):1244-51. PubMed ID: 17325244
[TBL] [Abstract][Full Text] [Related]
16. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Ortiz-Genga MF; Cuenca S; Dal Ferro M; Zorio E; Salgado-Aranda R; Climent V; Padrón-Barthe L; Duro-Aguado I; Jiménez-Jáimez J; Hidalgo-Olivares VM; García-Campo E; Lanzillo C; Suárez-Mier MP; Yonath H; Marcos-Alonso S; Ochoa JP; Santomé JL; García-Giustiniani D; Rodríguez-Garrido JL; Domínguez F; Merlo M; Palomino J; Peña ML; Trujillo JP; Martín-Vila A; Stolfo D; Molina P; Lara-Pezzi E; Calvo-Iglesias FE; Nof E; Calò L; Barriales-Villa R; Gimeno-Blanes JR; Arad M; García-Pavía P; Monserrat L
J Am Coll Cardiol; 2016 Dec; 68(22):2440-2451. PubMed ID: 27908349
[TBL] [Abstract][Full Text] [Related]
17. Desmoglein 2-Dependent Arrhythmogenic Cardiomyopathy Is Caused by a Loss of Adhesive Function.
Kant S; Holthöfer B; Magin TM; Krusche CA; Leube RE
Circ Cardiovasc Genet; 2015 Aug; 8(4):553-63. PubMed ID: 26085008
[TBL] [Abstract][Full Text] [Related]
18. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Dalal D; James C; Devanagondi R; Tichnell C; Tucker A; Prakasa K; Spevak PJ; Bluemke DA; Abraham T; Russell SD; Calkins H; Judge DP
J Am Coll Cardiol; 2006 Oct; 48(7):1416-24. PubMed ID: 17010805
[TBL] [Abstract][Full Text] [Related]
19. Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Herrmann H; Cabet E; Chevalier NR; Moosmann J; Schultheis D; Haas J; Schowalter M; Berwanger C; Weyerer V; Agaimy A; Meder B; Müller OJ; Katus HA; Schlötzer-Schrehardt U; Vicart P; Ferreiro A; Dittrich S; Clemen CS; Lilienbaum A; Schröder R
Circulation; 2020 Dec; 142(22):2155-2171. PubMed ID: 33023321
[TBL] [Abstract][Full Text] [Related]
20. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Dalakas MC; Park KY; Semino-Mora C; Lee HS; Sivakumar K; Goldfarb LG
N Engl J Med; 2000 Mar; 342(11):770-80. PubMed ID: 10717012
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
