BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

410 related articles for article (PubMed ID: 14724127)

  • 1. 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]  

  • 2. Intermediate filament diseases: desminopathy.
    Goldfarb LG; Olivé M; Vicart P; Goebel HH
    Adv Exp Med Biol; 2008; 642():131-64. PubMed ID: 19181099
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. [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]  

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

  • 10. 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]  

  • 11. 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; 30(3):E490-9. PubMed ID: 19105189
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Alpha B-crystallin mutation in dilated cardiomyopathy.
    Inagaki N; Hayashi T; Arimura T; Koga Y; Takahashi M; Shibata H; Teraoka K; Chikamori T; Yamashina A; Kimura A
    Biochem Biophys Res Commun; 2006 Apr; 342(2):379-86. PubMed ID: 16483541
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
    Goudeau B; Rodrigues-Lima F; Fischer D; Casteras-Simon M; Sambuughin N; de Visser M; Laforet P; Ferrer X; Chapon F; Sjöberg G; Kostareva A; Sejersen T; Dalakas MC; Goldfarb LG; Vicart P
    Hum Mutat; 2006 Sep; 27(9):906-13. PubMed ID: 16865695
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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; 23(2):208-12. PubMed ID: 10508519
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.