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Journal Abstract Search

645 related items for PubMed ID: 16380616

  • 1. A mutation in myotilin causes spheroid body myopathy.
    Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC.
    Neurology; 2005 Dec 27; 65(12):1936-40. PubMed ID: 16380616
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  • 2. 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 27; 68(6):701-7. PubMed ID: 19458539
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  • 5. 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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  • 6. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
    Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C.
    Neuromuscul Disord; 2006 Aug 17; 16(8):498-503. PubMed ID: 16806931
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  • 7. 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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  • 9. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.
    Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B.
    Neurology; 2007 Jun 12; 68(24):2107-12. PubMed ID: 17377072
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  • 13. Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.
    Garvey SM, Miller SE, Claflin DR, Faulkner JA, Hauser MA.
    Hum Mol Genet; 2006 Aug 01; 15(15):2348-62. PubMed ID: 16801328
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  • 14. Myotilinopathy in a family with late onset myopathy.
    Pénisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O, Udd B.
    Neuromuscul Disord; 2006 Jul 01; 16(7):427-31. PubMed ID: 16793270
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  • 19. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease.
    Le Ber I, Camuzat A, Berger E, Hannequin D, Laquerrière A, Golfier V, Seilhean D, Viennet G, Couratier P, Verpillat P, Heath S, Camu W, Martinaud O, Lacomblez L, Vercelletto M, Salachas F, Sellal F, Didic M, Thomas-Anterion C, Puel M, Michel BF, Besse C, Duyckaerts C, Meininger V, Campion D, Dubois B, Brice A, French Research Network on FTD/FTD-MND.
    Neurology; 2009 May 12; 72(19):1669-76. PubMed ID: 19433740
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  • 20. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
    Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():890-900. PubMed ID: 15570218
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