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Journal Abstract Search

222 related items for PubMed ID: 11431690

  • 1. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
    Betz RC, Schoser BG, Kasper D, Ricker K, Ramírez A, Stein V, Torbergsen T, Lee YA, Nöthen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C.
    Nat Genet; 2001 Jul; 28(3):218-9. PubMed ID: 11431690
    [Abstract] [Full Text] [Related]

  • 2. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
    Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M.
    Ann Neurol; 2003 Apr; 53(4):512-20. PubMed ID: 12666119
    [Abstract] [Full Text] [Related]

  • 3. Two novel CAV3 gene mutations in Japanese families.
    Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.
    Neuromuscul Disord; 2004 Dec; 14(12):810-4. PubMed ID: 15564037
    [Abstract] [Full Text] [Related]

  • 4. Phenotypic variability associated with Arg26Gln mutation in caveolin3.
    Fee DB, So YT, Barraza C, Figueroa KP, Pulst SM.
    Muscle Nerve; 2004 Sep; 30(3):375-8. PubMed ID: 15318349
    [Abstract] [Full Text] [Related]

  • 5. Consequences of a novel caveolin-3 mutation in a large German family.
    Fischer D, Schroers A, Blümcke I, Urbach H, Zerres K, Mortier W, Vorgerd M, Schröder R.
    Ann Neurol; 2003 Feb; 53(2):233-41. PubMed ID: 12557291
    [Abstract] [Full Text] [Related]

  • 6. Rippling muscle disease in childhood.
    Schara U, Vorgerd M, Popovic N, Schoser BG, Ricker K, Mortier W.
    J Child Neurol; 2002 Jul; 17(7):483-90. PubMed ID: 12269726
    [Abstract] [Full Text] [Related]

  • 7. A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes.
    Smythe GM, Eby JC, Disatnik MH, Rando TA.
    J Cell Sci; 2003 Dec 01; 116(Pt 23):4739-49. PubMed ID: 14600260
    [Abstract] [Full Text] [Related]

  • 8. Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
    Kubisch C, Ketelsen UP, Goebel I, Omran H.
    Ann Neurol; 2005 Feb 01; 57(2):303-4. PubMed ID: 15668980
    [No Abstract] [Full Text] [Related]

  • 9. Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
    Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Lévy N, Pellissier JF.
    Neurology; 2003 Aug 26; 61(4):562-4. PubMed ID: 12939441
    [Abstract] [Full Text] [Related]

  • 10. A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
    Lorenzoni PJ, Scola RH, Vieira N, Vainzof M, Carsten AL, Werneck LC.
    Muscle Nerve; 2007 Aug 26; 36(2):258-60. PubMed ID: 17405141
    [Abstract] [Full Text] [Related]

  • 11. Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
    Catteruccia M, Sanna T, Santorelli FM, Tessa A, Di Giacopo R, Sauchelli D, Verbo A, Lo Monaco M, Servidei S.
    Neuromuscul Disord; 2009 Nov 26; 19(11):779-83. PubMed ID: 19773168
    [Abstract] [Full Text] [Related]

  • 12. Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers.
    Lamb GD.
    Muscle Nerve; 2005 May 26; 31(5):652-8. PubMed ID: 15742369
    [Abstract] [Full Text] [Related]

  • 13. A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
    Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, Kubisch C, Schoser BG, Mortier W.
    Neurology; 2001 Dec 26; 57(12):2273-7. PubMed ID: 11756609
    [Abstract] [Full Text] [Related]

  • 14. Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.
    Sotgia F, Woodman SE, Bonuccelli G, Capozza F, Minetti C, Scherer PE, Lisanti MP.
    Am J Physiol Cell Physiol; 2003 Nov 26; 285(5):C1150-60. PubMed ID: 12839838
    [Abstract] [Full Text] [Related]

  • 15. Variable reduction of caveolin-3 in patients with LGMD2B/MM.
    Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Huebner A, Lochmüller H.
    J Neurol; 2003 Dec 26; 250(12):1431-8. PubMed ID: 14673575
    [Abstract] [Full Text] [Related]

  • 16. Caveolin-3 gene mutation in Japanese with rippling muscle disease.
    Yabe I, Kawashima A, Kikuchi S, Higashi T, Fukazawa T, Hamada T, Sasaki H, Tashiro K.
    Acta Neurol Scand; 2003 Jul 26; 108(1):47-51. PubMed ID: 12807393
    [Abstract] [Full Text] [Related]

  • 17. Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.
    Van den Bergh PY, Gérard JM, Elosegi JA, Manto MU, Kubisch C, Schoser BG.
    J Neurol Neurosurg Psychiatry; 2004 Sep 26; 75(9):1349-51. PubMed ID: 15314133
    [Abstract] [Full Text] [Related]

  • 18. Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.
    Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC.
    Neuromuscul Disord; 2006 Jul 26; 16(7):432-6. PubMed ID: 16730439
    [Abstract] [Full Text] [Related]

  • 19. A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
    Cagliani R, Bresolin N, Prelle A, Gallanti A, Fortunato F, Sironi M, Ciscato P, Fagiolari G, Bonato S, Galbiati S, Corti S, Lamperti C, Moggio M, Comi GP.
    Neurology; 2003 Dec 09; 61(11):1513-9. PubMed ID: 14663034
    [Abstract] [Full Text] [Related]

  • 20. A new missense mutation in caveolin-3 gene causes rippling muscle disease.
    Dotti MT, Malandrini A, Gambelli S, Salvadori C, De Stefano N, Federico A.
    J Neurol Sci; 2006 Apr 15; 243(1-2):61-4. PubMed ID: 16458928
    [Abstract] [Full Text] [Related]

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