BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (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
    [TBL] [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
    [TBL] [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
    [TBL] [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
    [TBL] [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
    [TBL] [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
    [TBL] [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; 116(Pt 23):4739-49. PubMed ID: 14600260
    [TBL] [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; 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; 61(4):562-4. PubMed ID: 12939441
    [TBL] [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; 36(2):258-60. PubMed ID: 17405141
    [TBL] [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; 19(11):779-83. PubMed ID: 19773168
    [TBL] [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; 31(5):652-8. PubMed ID: 15742369
    [TBL] [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; 57(12):2273-7. PubMed ID: 11756609
    [TBL] [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; 285(5):C1150-60. PubMed ID: 12839838
    [TBL] [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; 250(12):1431-8. PubMed ID: 14673575
    [TBL] [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; 108(1):47-51. PubMed ID: 12807393
    [TBL] [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; 75(9):1349-51. PubMed ID: 15314133
    [TBL] [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; 16(7):432-6. PubMed ID: 16730439
    [TBL] [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; 61(11):1513-9. PubMed ID: 14663034
    [TBL] [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; 243(1-2):61-4. PubMed ID: 16458928
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.