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Journal Abstract Search

682 related items for PubMed ID: 10717012

  • 1. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
    Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG.
    N Engl J Med; 2000 Mar 16; 342(11):770-80. PubMed ID: 10717012
    [Abstract] [Full Text] [Related]

  • 2. Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
    Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nédellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P.
    Hum Mutat; 2001 Nov 16; 18(5):388-96. PubMed ID: 11668632
    [Abstract] [Full Text] [Related]

  • 3. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
    Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P.
    Muscle Nerve; 2003 Jun 16; 27(6):669-75. PubMed ID: 12766977
    [Abstract] [Full Text] [Related]

  • 4. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
    Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP.
    Eur J Med Genet; 2007 Jun 16; 50(5):355-66. PubMed ID: 17720647
    [Abstract] [Full Text] [Related]

  • 5. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
    Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.
    Nat Genet; 1999 Oct 16; 23(2):208-12. PubMed ID: 10508519
    [Abstract] [Full Text] [Related]

  • 6. 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 16; 19(4):402-3. PubMed ID: 9697706
    [Abstract] [Full Text] [Related]

  • 7. Impact of disease mutations on the desmin filament assembly process.
    Bär H, Mücke N, Ringler P, Müller SA, Kreplak L, Katus HA, Aebi U, Herrmann H.
    J Mol Biol; 2006 Jul 28; 360(5):1031-42. PubMed ID: 16828798
    [Abstract] [Full Text] [Related]

  • 8. How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
    Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R.
    Hum Mutat; 2009 Mar 28; 30(3):E490-9. PubMed ID: 19105189
    [Abstract] [Full Text] [Related]

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  • 10. 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 28; 251(2):143-9. PubMed ID: 14991347
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  • 12. Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages.
    Bär H, Mücke N, Kostareva A, Sjöberg G, Aebi U, Herrmann H.
    Proc Natl Acad Sci U S A; 2005 Oct 18; 102(42):15099-104. PubMed ID: 16217025
    [Abstract] [Full Text] [Related]

  • 13. [Myofibrillar myopathies].
    Olivé-Plana M.
    Rev Neurol; 2005 Oct 18; 37(8):770-2. PubMed ID: 14593638
    [Abstract] [Full Text] [Related]

  • 14. [Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene].
    Pou Serradell A, Lloreta Trull J, Corominas Torres J, Guicheney P.
    Neurologia; 2001 May 18; 16(5):195-203. PubMed ID: 11412718
    [Abstract] [Full Text] [Related]

  • 15. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
    Selcen D, Ohno K, Engel AG.
    Brain; 2004 Feb 18; 127(Pt 2):439-51. PubMed ID: 14711882
    [Abstract] [Full Text] [Related]

  • 16. Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature.
    Wanschit J, Nakano S, Goudeau B, Ströbel T, Rinner W, Wimmer G, Resch H, Jaksch M, Akiguchi I, Vicart P, Budka H.
    Clin Neuropathol; 2002 Feb 18; 21(5):220-31. PubMed ID: 12365725
    [Abstract] [Full Text] [Related]

  • 17. Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.
    Vernengo L, Chourbagi O, Panuncio A, Lilienbaum A, Batonnet-Pichon S, Bruston F, Rodrigues-Lima F, Mesa R, Pizzarossa C, Demay L, Richard P, Vicart P, Rodriguez MM.
    Neuromuscul Disord; 2010 Mar 18; 20(3):178-87. PubMed ID: 20133133
    [Abstract] [Full Text] [Related]

  • 18. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.
    Selcen D, Engel AG.
    Ann Neurol; 2003 Dec 18; 54(6):804-10. PubMed ID: 14681890
    [Abstract] [Full Text] [Related]

  • 19. Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.
    Olivé M, Goldfarb L, Dagvadorj A, Sambuughin N, Paulin D, Li Z, Goudeau B, Vicart P, Ferrer I.
    Acta Neuropathol; 2003 Jul 18; 106(1):1-7. PubMed ID: 12669240
    [Abstract] [Full Text] [Related]

  • 20. Prevalence of desmin mutations in dilated cardiomyopathy.
    Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L, Familial Cardiomyopathy Registry, BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank.
    Circulation; 2007 Mar 13; 115(10):1244-51. PubMed ID: 17325244
    [Abstract] [Full Text] [Related]

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