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Journal Abstract Search

362 related items for PubMed ID: 9697706

  • 1. 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
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  • 2. 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 Aug; 50(5):355-66. PubMed ID: 17720647
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  • 8. 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; 18(5):388-96. PubMed ID: 11668632
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  • 9. 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
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  • 10. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
    Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C.
    Neuromuscul Disord; 2006 Aug; 16(8):498-503. PubMed ID: 16806931
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  • 14. 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; 20(3):178-87. PubMed ID: 20133133
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  • 15. Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.
    Dalakas MC, Dagvadorj A, Goudeau B, Park KY, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG.
    Neuromuscul Disord; 2003 Mar; 13(3):252-8. PubMed ID: 12609507
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  • 16. 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
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  • 17. 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
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  • 20. 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
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