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Journal Abstract Search

263 related items for PubMed ID: 15564037

  • 1. 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]

  • 2. 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
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  • 4. 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
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  • 5. 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 15; 28(3):218-9. PubMed ID: 11431690
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  • 6. 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 15; 53(2):233-41. PubMed ID: 12557291
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  • 8. 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 15; 250(12):1431-8. PubMed ID: 14673575
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  • 9. 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
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  • 10. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
    van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.
    Neurology; 2007 Jun 12; 68(24):2125-8. PubMed ID: 17562833
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  • 11. Symptomatic dysferlin gene mutation carriers: characterization of two cases.
    Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E.
    Neurology; 2007 Apr 17; 68(16):1284-9. PubMed ID: 17287450
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  • 12. Limb-girdle muscular dystrophy due to emerin gene mutations.
    Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.
    Arch Neurol; 2007 Jul 17; 64(7):1038-41. PubMed ID: 17620497
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  • 13. Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
    Madrid RE, Kubisch C, Hays AP.
    Neurology; 2005 Oct 25; 65(8):1301-3. PubMed ID: 16247063
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  • 14. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
    Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN.
    Neuromuscul Disord; 2008 Jan 25; 18(1):34-44. PubMed ID: 17897828
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  • 15. Myotonia associated with caveolin-3 mutation.
    Milone M, McEvoy KM, Sorenson EJ, Daube JR.
    Muscle Nerve; 2012 Jun 25; 45(6):897-900. PubMed ID: 22581547
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  • 16. Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
    Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK.
    J Neuropathol Exp Neurol; 2009 Jun 25; 68(6):701-7. PubMed ID: 19458539
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  • 17. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
    Hermanová M, Zapletalová E, Sedlácková J, Chrobáková T, Letocha O, Kroupová I, Zámecník J, Vondrácek P, Mazanec R, Maríková T, Vohánka S, Fajkusová L.
    Muscle Nerve; 2006 Mar 25; 33(3):424-32. PubMed ID: 16372320
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  • 18. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
    Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B.
    Neurology; 2012 Mar 20; 78(12):897-903. PubMed ID: 22402862
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  • 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
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  • 20. Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.
    Golla S, Agadi S, Burns DK, Marks W, Dev Batish S, del Gaudio D, Iannaccone ST.
    J Clin Neuromuscul Dis; 2010 Jun 09; 11(4):203-8. PubMed ID: 20516809
    [Abstract] [Full Text] [Related]

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