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Journal Abstract Search

444 related items for PubMed ID: 19458539

  • 21. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
    Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.
    J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):205-8. PubMed ID: 17698502
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  • 22. Myofibrillar myopathy with limb-girdle phenotype in a Thai patient.
    Liewluck T, Kintarak J, Sangruchi T, Selcen D, Kulkantrakorn K.
    J Med Assoc Thai; 2009 Feb; 92(2):290-5. PubMed ID: 19253808
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  • 23. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.
    Therrien C, Dodig D, Karpati G, Sinnreich M.
    J Neurol Sci; 2006 Dec 01; 250(1-2):71-8. PubMed ID: 16996541
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  • 24. 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 01; 11(4):203-8. PubMed ID: 20516809
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  • 25. Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.
    von Nandelstadh P, Soliymani R, Baumann M, Carpen O.
    Biochem J; 2011 May 15; 436(1):113-21. PubMed ID: 21361873
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  • 26. A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
    Guglielmi V, Pancheri E, Cannone E, Nigro V, Malatesta M, Vettori A, Giorgetti A, Torella A, Aurino S, Cisterna B, Marchetto G, Tomelleri G, Tonin P, Schiavone M, Vattemi G.
    Clin Genet; 2023 Dec 15; 104(6):705-710. PubMed ID: 37553249
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  • 27. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
    Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A.
    Brain; 2005 Apr 15; 128(Pt 4):732-42. PubMed ID: 15689361
    [Abstract] [Full Text] [Related]

  • 28. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
    Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, Koref MS, Straub V, Bushby KM.
    Brain; 2007 Dec 15; 130(Pt 12):3237-49. PubMed ID: 18055493
    [Abstract] [Full Text] [Related]

  • 29. Mutations in ZASP define a novel form of muscular dystrophy in humans.
    Selcen D, Engel AG.
    Ann Neurol; 2005 Feb 15; 57(2):269-76. PubMed ID: 15668942
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  • 33. 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 15; 64(7):1038-41. PubMed ID: 17620497
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  • 34. Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.
    Meulemans A, De Paepe B, De Bleecker J, Smet J, Lissens W, Van Coster R, De Meirleir L, Seneca S.
    Arch Neurol; 2007 Sep 15; 64(9):1339-43. PubMed ID: 17846276
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  • 37. A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.
    Lin YC, Murakami T, Hayashi YK, Nishino I, Nonaka I, Yuo CY, Jong YJ.
    Brain Dev; 2007 May 15; 29(4):234-8. PubMed ID: 17055682
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  • 38. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
    Salmikangas P, van der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, Schröder R, Lappalainen P, Fürst DO, Carpén O.
    Hum Mol Genet; 2003 Jan 15; 12(2):189-203. PubMed ID: 12499399
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  • 39. In vivo characterization of mutant myotilins.
    Keduka E, Hayashi YK, Shalaby S, Mitsuhashi H, Noguchi S, Nonaka I, Nishino I.
    Am J Pathol; 2012 Apr 15; 180(4):1570-80. PubMed ID: 22349301
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  • 40. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.
    Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B.
    Brain; 2007 Feb 15; 130(Pt 2):368-80. PubMed ID: 17008331
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