These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

282 related articles for article (PubMed ID: 15050448)

  • 1. Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.
    Olivé M; Goldfarb L; Moreno D; Laforet E; Dagvadorj A; Sambuughin N; Martínez-Matos JA; Martínez F; Alió J; Farrero E; Vicart P; Ferrer I
    J Neurol Sci; 2004 Apr; 219(1-2):125-37. PubMed ID: 15050448
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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; 16(5):195-203. PubMed ID: 11412718
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Desmin myopathy.
    Goldfarb LG; Vicart P; Goebel HH; Dalakas MC
    Brain; 2004 Apr; 127(Pt 4):723-34. PubMed ID: 14724127
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation.
    Carlsson L; Fischer C; Sjöberg G; Robson RM; Sejersen T; Thornell LE
    Acta Neuropathol; 2002 Nov; 104(5):493-504. PubMed ID: 12410397
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 50(5):355-66. PubMed ID: 17720647
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 106(1):1-7. PubMed ID: 12669240
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 251(2):143-9. PubMed ID: 14991347
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gene-related protein surplus myopathies.
    Goebel HH; Warlo I
    Mol Genet Metab; 2000; 71(1-2):267-75. PubMed ID: 11001821
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel desmin R355P mutation causes cardiac and skeletal myopathy.
    Fidziańska A; Kotowicz J; Sadowska M; Goudeau B; Walczak E; Vicart P; Hausmanowa-Petrusewicz I
    Neuromuscul Disord; 2005 Aug; 15(8):525-31. PubMed ID: 16009553
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
    Hong D; Wang Z; Zhang W; Xi J; Lu J; Luan X; Yuan Y
    Neuropathol Appl Neurobiol; 2011 Apr; 37(3):257-70. PubMed ID: 20696008
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
    Malfatti E; Olivé M; Taratuto AL; Richard P; Brochier G; Bitoun M; Gueneau L; Laforêt P; Stojkovic T; Maisonobe T; Monges S; Lubieniecki F; Vasquez G; Streichenberger N; Lacène E; Saccoliti M; Prudhon B; Alexianu M; Figarella-Branger D; Schessl J; Bonnemann C; Eymard B; Fardeau M; Bonne G; Romero NB
    J Neuropathol Exp Neurol; 2013 Sep; 72(9):833-45. PubMed ID: 23965743
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
    Ferreiro A; Ceuterick-de Groote C; Marks JJ; Goemans N; Schreiber G; Hanefeld F; Fardeau M; Martin JJ; Goebel HH; Richard P; Guicheney P; Bönnemann CG
    Ann Neurol; 2004 May; 55(5):676-86. PubMed ID: 15122708
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 21(5):220-31. PubMed ID: 12365725
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
    Vicart P; Caron A; Guicheney P; Li Z; Prévost MC; Faure A; Chateau D; Chapon F; Tomé F; Dupret JM; Paulin D; Fardeau M
    Nat Genet; 1998 Sep; 20(1):92-5. PubMed ID: 9731540
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 27(6):669-75. PubMed ID: 12766977
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Desminopathies in muscle disease.
    Paulin D; Huet A; Khanamyrian L; Xue Z
    J Pathol; 2004 Nov; 204(4):418-27. PubMed ID: 15495235
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 19(4):402-3. PubMed ID: 9697706
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 342(11):770-80. PubMed ID: 10717012
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
    Ohlsson M; Hedberg C; Brådvik B; Lindberg C; Tajsharghi H; Danielsson O; Melberg A; Udd B; Martinsson T; Oldfors A
    Brain; 2012 Jun; 135(Pt 6):1682-94. PubMed ID: 22577218
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.