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Journal Abstract Search

223 related items for PubMed ID: 8565338

  • 21. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
    Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.
    Neurology; 2005 Dec 27; 65(12):1930-5. PubMed ID: 16380615
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  • 23. Polysaccharide storage myopathy--case report and literature review.
    Miladi MI, Feki I, Choyakh F, Ben Hmida M, Zouari N, Mhiri C.
    Clin Neuropathol; 2005 Dec 27; 24(3):126-32. PubMed ID: 15943164
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  • 26. Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
    Claeys KG, Pellissier JF, Garcia-Bragado F, Weis J, Urtizberea A, Poza JJ, Cobo AM, Stoltenburg G, Figarella-Branger D, Willems PJ, Depuydt CE, Kleiner W, Pouget J, Piraud M, Brochier G, Romero NB, Fardeau M, Goebel HH, Bönnemann CG, Voit T, Eymard B, Laforêt P.
    Neuromuscul Disord; 2010 Nov 27; 20(11):701-8. PubMed ID: 20637616
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  • 31. 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 Nov 27; 50(5):355-66. PubMed ID: 17720647
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  • 34. [Exercise-induced muscular weakness, myalgia and contractures. I. A clinical review].
    Mattle H, Jerusalem F.
    Schweiz Med Wochenschr; 1977 Apr 02; 107(13):428-36. PubMed ID: 139680
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  • 35. Episodic muscle pain, stiffness, and weakness associated with tubular aggregates and myoedema.
    Mahjneh I, Lamminen A, Tuominen H.
    Eur J Neurol; 2007 May 02; 14(5):569-71. PubMed ID: 17437618
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  • 36. 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 02; 19(4):402-3. PubMed ID: 9697706
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  • 39. 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 02; 30(3):E490-9. PubMed ID: 19105189
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  • 40. [Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency].
    Chapon F, Viader F, Fardeau M, Tomé F, Daluzeau N, Berthelin C, Thénint JP, Lechevalier B.
    Rev Neurol (Paris); 1989 Mar 02; 145(6-7):460-5. PubMed ID: 2552561
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