These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
109 related articles for article (PubMed ID: 34315782)
1. Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation. Shelly S; Talha N; Pereira NL; Engel AG; Johnson JN; Selcen D Neurology; 2021 Sep; 97(11):e1150-e1158. PubMed ID: 34315782 [TBL] [Abstract][Full Text] [Related]
2. New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease. Nalini A; Gayathri N; Richard P; Cobo AM; Urtizberea JA Neurol India; 2013; 61(6):622-6. PubMed ID: 24441330 [TBL] [Abstract][Full Text] [Related]
3. Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy. Rich KA; Moscarello T; Siskind C; Brock G; Tan CA; Vatta M; Winder TL; Elsheikh B; Vicini L; Tucker B; Palettas M; Hershberger RE; Kissel JT; Morales A; Roggenbuck J Mol Genet Genomic Med; 2020 Oct; 8(10):e1460. PubMed ID: 32815318 [TBL] [Abstract][Full Text] [Related]
4. A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy. Cao L; Hong D; Zhu M; Li X; Wan H; Hong K Clin Neuropathol; 2013; 32(1):9-15. PubMed ID: 23036309 [TBL] [Abstract][Full Text] [Related]
5. Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy. Harada H; Hayashi T; Nishi H; Kusaba K; Koga Y; Koga Y; Nonaka I; Kimura A J Hum Genet; 2018 Feb; 63(2):249-254. PubMed ID: 29167554 [TBL] [Abstract][Full Text] [Related]
6. Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. Riley LG; Waddell LB; Ghaoui R; Evesson FJ; Cummings BB; Bryen SJ; Joshi H; Wang MX; Brammah S; Kritharides L; Corbett A; MacArthur DG; Cooper ST Eur J Hum Genet; 2019 Aug; 27(8):1267-1273. PubMed ID: 31024060 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Spectrum of congenital myopathies: a single centre experience. Uppin MS; Meena AK; Sundaram C Neurol India; 2013; 61(3):254-9. PubMed ID: 23860144 [TBL] [Abstract][Full Text] [Related]
10. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Goldfarb LG; Park KY; Cervenáková L; Gorokhova S; Lee HS; Vasconcelos O; Nagle JW; Semino-Mora C; Sivakumar K; Dalakas MC Nat Genet; 1998 Aug; 19(4):402-3. PubMed ID: 9697706 [TBL] [Abstract][Full Text] [Related]
11. Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance. Choi SA; Cho A; Kim SY; Kim WJ; Shim YK; Lee JS; Jang SS; Lim BC; Kim H; Hwang H; Choi JE; Kim KJ; Kim MJ; Seong MW; Chae JH Muscle Nerve; 2019 Dec; 60(6):668-672. PubMed ID: 31498906 [TBL] [Abstract][Full Text] [Related]
12. Use of the implantable cardioverter-defibrillator in long-term survivors of orthotopic heart transplantation. Ptaszek LM; Wang PJ; Hunt SA; Valantine H; Perlroth M; Al-Ahmad A Heart Rhythm; 2005 Sep; 2(9):931-3. PubMed ID: 16171746 [TBL] [Abstract][Full Text] [Related]
13. A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. Dagvadorj A; Olivé M; Urtizberea JA; Halle M; Shatunov A; Bönnemann C; Park KY; Goebel HH; Ferrer I; Vicart P; Dalakas MC; Goldfarb LG J Neurol; 2004 Feb; 251(2):143-9. PubMed ID: 14991347 [TBL] [Abstract][Full Text] [Related]
14. The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies. Lamacie MM; Warman-Chardon J; Crean AM; Florian A; Wahbi K J Neuromuscul Dis; 2019; 6(4):389-399. PubMed ID: 31561382 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice. Durmuş H; Ayhan Ö; Çırak S; Deymeer F; Parman Y; Franke A; Eiber N; Chevessier F; Schlötzer-Schrehardt U; Clemen CS; Hashemolhosseini S; Schröder R; Hemmrich-Stanisak G; Tolun A; Serdaroğlu-Oflazer P Neurology; 2016 Aug; 87(8):799-805. PubMed ID: 27440146 [TBL] [Abstract][Full Text] [Related]