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Journal Abstract Search

138 related items for PubMed ID: 38430701

  • 1. Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.
    Perna A, Bosco L, Fattori F, Torchia E, Modoni A, Papacci M, Petrucci A, Tasca G, Ricci E, Bertini ES, Silvestri G.
    Neuromuscul Disord; 2024 Apr; 37():1-5. PubMed ID: 38430701
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  • 2. 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
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  • 3. A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
    Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V.
    Neuromuscul Disord; 2017 Nov; 27(11):1009-1017. PubMed ID: 28716623
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  • 4. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
    Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schafer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, Ferreiro A.
    Hum Mol Genet; 2014 Feb 15; 23(4):980-91. PubMed ID: 24105469
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  • 8. Role of Titin Missense Variants in Dilated Cardiomyopathy.
    Begay RL, Graw S, Sinagra G, Merlo M, Slavov D, Gowan K, Jones KL, Barbati G, Spezzacatene A, Brun F, Di Lenarda A, Smith JE, Granzier HL, Mestroni L, Taylor M, Familial Cardiomyopathy Registry.
    J Am Heart Assoc; 2015 Nov 13; 4(11):. PubMed ID: 26567375
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  • 9. Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing.
    McDermott H, Henderson A, Robinson HK, Heaver R, Halahakoon C, Cox H, Naik S.
    Neuromuscul Disord; 2021 Aug 13; 31(8):783-787. PubMed ID: 34303570
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  • 10. Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.
    Franaszczyk M, Chmielewski P, Truszkowska G, Stawinski P, Michalak E, Rydzanicz M, Sobieszczanska-Malek M, Pollak A, Szczygieł J, Kosinska J, Parulski A, Stoklosa T, Tarnowska A, Machnicki MM, Foss-Nieradko B, Szperl M, Sioma A, Kusmierczyk M, Grzybowski J, Zielinski T, Ploski R, Bilinska ZT.
    PLoS One; 2017 Aug 13; 12(1):e0169007. PubMed ID: 28045975
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  • 11. Truncations of titin causing dilated cardiomyopathy.
    Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE.
    N Engl J Med; 2012 Feb 16; 366(7):619-28. PubMed ID: 22335739
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  • 12. Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.
    Wacker J, Di Bernardo S, Lobrinus JA, Jungbluth H, Gautel M, Beghetti M, Fluss J.
    Pediatr Transplant; 2023 Sep 16; 27(6):e14561. PubMed ID: 37345726
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  • 14. The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
    Perrin A, Juntas Morales R, Rivier F, Cances C, Walther-Louvier U, Van Goethem C, Thèze C, Lacourt D, Pégeot H, Zenagui R, Uro-Coste E, Leboucq N, Malfatti E, Delaby C, Lehmann S, Rigau V, Koenig M, Cossée M.
    Neuromuscul Disord; 2020 Nov 16; 30(11):877-887. PubMed ID: 33127292
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  • 17. Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.
    Salih MA, Hamad MH, Savarese M, Alorainy IA, Al-Jarallah AS, Alkhalidi H, AlQudairy H, Albader A, Alotaibi AJ, Alsagob M, Al-Bakheet A, Colak D, Udd B, Kaya N.
    Genet Test Mol Biomarkers; 2021 Dec 16; 25(12):757-764. PubMed ID: 34918981
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  • 18. Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
    Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B.
    Mol Neurobiol; 2017 Nov 16; 54(9):7212-7223. PubMed ID: 27796757
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