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Journal Abstract Search

566 related items for PubMed ID: 28716623

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 29; 20(1):166. PubMed ID: 31664938
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.
    Dabby R, Sadeh M, Hilton-Jones D, Plotz P, Hackman P, Vihola A, Udd B, Leshinsky-Silver E.
    J Neurol Sci; 2015 Apr 15; 351(1-2):120-123. PubMed ID: 25772186
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 8(10):e1460. PubMed ID: 32815318
    [Abstract] [Full Text] [Related]

  • 7. Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.
    Wang G, Lv X, Xu L, Zhang R, Yan C, Lin P.
    Neurol Sci; 2022 May 15; 43(5):3427-3433. PubMed ID: 35239051
    [Abstract] [Full Text] [Related]

  • 8. Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker.
    Misaka T, Yoshihisa A, Takeishi Y.
    Clin Chim Acta; 2019 Aug 15; 495():123-128. PubMed ID: 30959043
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
    Udd B, Vihola A, Sarparanta J, Richard I, Hackman P.
    Neurology; 2005 Feb 22; 64(4):636-42. PubMed ID: 15728284
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 85(24):2126-35. PubMed ID: 26581302
    [Abstract] [Full Text] [Related]

  • 12. Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.
    Zheng W, Chen H, Deng X, Yuan L, Yang Y, Song Z, Yang Z, Wu Y, Deng H.
    Mol Neurobiol; 2016 Oct 15; 53(8):5097-102. PubMed ID: 26392295
    [Abstract] [Full Text] [Related]

  • 13. Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families.
    Chen H, Xu G, Lin F, Jin M, Cai N, Qiu L, Ye Z, Wang L, Lin M, Wang N.
    Neuromuscul Disord; 2020 Feb 15; 30(2):137-143. PubMed ID: 32005491
    [Abstract] [Full Text] [Related]

  • 14. TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.
    Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST.
    Neuromuscul Disord; 2016 Aug 15; 26(8):500-3. PubMed ID: 27342937
    [Abstract] [Full Text] [Related]

  • 15. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.
    Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Crémieux I, Udd B.
    J Neurol Neurosurg Psychiatry; 2010 Nov 15; 81(11):1200-2. PubMed ID: 20571043
    [Abstract] [Full Text] [Related]

  • 16. Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
    Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, Michel-Calemard L, Stojkovic T.
    Neuromuscul Disord; 2019 Jul 15; 29(7):497-502. PubMed ID: 31266720
    [Abstract] [Full Text] [Related]

  • 17. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
    Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.
    JAMA Neurol; 2015 Dec 15; 72(12):1424-32. PubMed ID: 26436962
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
    Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E.
    Arch Neurol; 2005 Dec 01; 62(12):1894-9. PubMed ID: 16344347
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 75(2):230-40. PubMed ID: 24395473
    [Abstract] [Full Text] [Related]

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