387 related articles for article (PubMed ID: 24105469)
1. 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; 23(4):980-91. PubMed ID: 24105469
[TBL] [Abstract][Full Text] [Related]
2. 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
[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. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O; Agrawal PB; Hidalgo C; Schmitz-Abe K; DeChene ET; Swanson LC; Soemedi R; Vasli N; Iannaccone ST; Shieh PB; Shur N; Dennison JM; Lawlor MW; Laporte J; Markianos K; Fairbrother WG; Granzier H; Beggs AH
Neurology; 2013 Oct; 81(14):1205-14. PubMed ID: 23975875
[TBL] [Abstract][Full Text] [Related]
5. Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M; Sarparanta J; Vihola A; Udd B; Hackman P
J Neuromuscul Dis; 2016 Aug; 3(3):293-308. PubMed ID: 27854229
[TBL] [Abstract][Full Text] [Related]
6. Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
Khan A; Wang R; Han S; Umair M; Abbas S; Khan MI; Alshabeeb MA; Alfadhel M; Zhang X
BMC Med Genet; 2019 Oct; 20(1):166. PubMed ID: 31664938
[TBL] [Abstract][Full Text] [Related]
7. 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; 31(8):783-787. PubMed ID: 34303570
[TBL] [Abstract][Full Text] [Related]
8. 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; 54(9):7212-7223. PubMed ID: 27796757
[TBL] [Abstract][Full Text] [Related]
9. Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement.
Ge L; Fu X; Zhang W; Wang D; Wang Z; Yuan Y; Nonaka I; Xiong H
Neuromuscul Disord; 2019 May; 29(5):350-357. PubMed ID: 31053406
[TBL] [Abstract][Full Text] [Related]
10. Atypical phenotypes in titinopathies explained by second titin mutations.
Evilä A; Vihola A; Sarparanta J; Raheem O; Palmio J; Sandell S; Eymard B; Illa I; Rojas-Garcia R; Hankiewicz K; Negrão L; Löppönen T; Nokelainen P; Kärppä M; Penttilä S; Screen M; Suominen T; Richard I; Hackman P; Udd B
Ann Neurol; 2014 Feb; 75(2):230-40. PubMed ID: 24395473
[TBL] [Abstract][Full Text] [Related]
11. Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M; Maggi L; Vihola A; Jonson PH; Tasca G; Ruggiero L; Bello L; Magri F; Giugliano T; Torella A; Evilä A; Di Fruscio G; Vanakker O; Gibertini S; Vercelli L; Ruggieri A; Antozzi C; Luque H; Janssens S; Pasanisi MB; Fiorillo C; Raimondi M; Ergoli M; Politano L; Bruno C; Rubegni A; Pane M; Santorelli FM; Minetti C; Angelini C; De Bleecker J; Moggio M; Mongini T; Comi GP; Santoro L; Mercuri E; Pegoraro E; Mora M; Hackman P; Udd B; Nigro V
JAMA Neurol; 2018 May; 75(5):557-565. PubMed ID: 29435569
[TBL] [Abstract][Full Text] [Related]
12. Titin-truncating mutations associated with dilated cardiomyopathy alter length-dependent activation and its modulation via phosphorylation.
Vikhorev PG; Vikhoreva NN; Yeung W; Li A; Lal S; Dos Remedios CG; Blair CA; Guglin M; Campbell KS; Yacoub MH; de Tombe P; Marston SB
Cardiovasc Res; 2022 Jan; 118(1):241-253. PubMed ID: 33135063
[TBL] [Abstract][Full Text] [Related]
13. 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
[TBL] [Abstract][Full Text] [Related]
14. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
Perić S; Glumac JN; Töpf A; Savić-Pavićević D; Phillips L; Johnson K; Cassop-Thompson M; Xu L; Bertoli M; Lek M; MacArthur D; Brkušanin M; Milenković S; Rašić VM; Banko B; Maksimović R; Lochmüller H; Stojanović VR; Straub V
Eur J Hum Genet; 2017 May; 25(5):572-581. PubMed ID: 28295036
[TBL] [Abstract][Full Text] [Related]
15. Titin mutations and muscle disease.
Kellermayer D; Smith JE; Granzier H
Pflugers Arch; 2019 May; 471(5):673-682. PubMed ID: 30919088
[TBL] [Abstract][Full Text] [Related]
16. Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.
Liu JS; Fan LL; Zhang H; Liu X; Huang H; Tao LJ; Xia K; Xiang R
Cardiology; 2017; 136(1):10-14. PubMed ID: 27544385
[TBL] [Abstract][Full Text] [Related]
17. 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;
J Am Heart Assoc; 2015 Nov; 4(11):. PubMed ID: 26567375
[TBL] [Abstract][Full Text] [Related]
18. A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
De Cid R; Ben Yaou R; Roudaut C; Charton K; Baulande S; Leturcq F; Romero NB; Malfatti E; Beuvin M; Vihola A; Criqui A; Nelson I; Nectoux J; Ben Aim L; Caloustian C; Olaso R; Udd B; Bonne G; Eymard B; Richard I
Neurology; 2015 Dec; 85(24):2126-35. PubMed ID: 26581302
[TBL] [Abstract][Full Text] [Related]
19. Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker.
Misaka T; Yoshihisa A; Takeishi Y
Clin Chim Acta; 2019 Aug; 495():123-128. PubMed ID: 30959043
[TBL] [Abstract][Full Text] [Related]
20. A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Beqqali A; Bollen IA; Rasmussen TB; van den Hoogenhof MM; van Deutekom HW; Schafer S; Haas J; Meder B; Sørensen KE; van Oort RJ; Mogensen J; Hubner N; Creemers EE; van der Velden J; Pinto YM
Cardiovasc Res; 2016 Oct; 112(1):452-63. PubMed ID: 27496873
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
