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Journal Abstract Search

335 related items for PubMed ID: 29435569

  • 1. 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 01; 75(5):557-565. PubMed ID: 29435569
    [Abstract] [Full Text] [Related]

  • 2. Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.
    Yu M, Zhu Y, Xie Z, Zheng Y, Xiao J, Zhang W, Nishino I, Yuan Y, Wang Z.
    Ann Clin Transl Neurol; 2019 Jul 01; 6(7):1311-1318. PubMed ID: 31353864
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 30(11):877-887. PubMed ID: 33127292
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 8(10):e1460. PubMed ID: 32815318
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 27(11):1009-1017. PubMed ID: 28716623
    [Abstract] [Full Text] [Related]

  • 6. Increasing Role of Titin Mutations in Neuromuscular Disorders.
    Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P.
    J Neuromuscul Dis; 2016 Aug 30; 3(3):293-308. PubMed ID: 27854229
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
    Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A.
    J Neurol Neurosurg Psychiatry; 2014 Mar 15; 85(3):331-8. PubMed ID: 23486992
    [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 15; 29(5):350-357. PubMed ID: 31053406
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 54(9):7212-7223. PubMed ID: 27796757
    [Abstract] [Full Text] [Related]

  • 11. Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
    Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B.
    J Neurol; 2019 Mar 15; 266(3):680-690. PubMed ID: 30666435
    [Abstract] [Full Text] [Related]

  • 12. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
    Toro C, Olivé M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG.
    BMC Neurol; 2013 Mar 20; 13():29. PubMed ID: 23514108
    [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 20; 37():1-5. PubMed ID: 38430701
    [Abstract] [Full Text] [Related]

  • 14. 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 20; 75(2):230-40. PubMed ID: 24395473
    [Abstract] [Full Text] [Related]

  • 15. Titin related myopathy with ophthalmoplegia. A novel phenotype.
    Alawneh I, Yuki KE, Amburgey K, Yoon G, Dowling JJ, Hazrati LN, Gonorazky H.
    Neuromuscul Disord; 2023 Jul 20; 33(7):605-609. PubMed ID: 37393749
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  • 20. Prevalence of Titin Truncating Variants in General Population.
    Akinrinade O, Koskenvuo JW, Alastalo TP.
    PLoS One; 2015 Jul 20; 10(12):e0145284. PubMed ID: 26701604
    [Abstract] [Full Text] [Related]

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