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Journal Abstract Search

140 related items for PubMed ID: 27104310

  • 1. Dysferlin quantification in monocytes for rapid screening for dysferlinopathies.
    Sánchez-Chapul L, Ángel-Muñoz MD, Ruano-Calderón L, Luna-Angulo A, Coral-Vázquez R, Hernández-Hernández Ó, Magaña JJ, León-Hernández SR, Escobar-Cedillo RE, Vargas S.
    Muscle Nerve; 2016 Dec; 54(6):1064-1071. PubMed ID: 27104310
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  • 2. Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
    Gallardo E, de Luna N, Diaz-Manera J, Rojas-García R, Gonzalez-Quereda L, Flix B, de Morrée A, van der Maarel S, Illa I.
    PLoS One; 2011 Dec; 6(12):e29061. PubMed ID: 22194990
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  • 5. Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
    Ankala A, Nallamilli BR, Rufibach LE, Hwang E, Hegde MR.
    Muscle Nerve; 2014 Sep; 50(3):333-9. PubMed ID: 24488599
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  • 6. Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele.
    Meznaric M, Gonzalez-Quereda L, Gallardo E, de Luna N, Gallano P, Fanin M, Angelini C, Peterlin B, Zidar J.
    Eur J Neurol; 2011 Jul; 18(7):1021-3. PubMed ID: 21658164
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  • 8. Immunolabelling and flow cytometry as new tools to explore dysferlinopathies.
    Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N.
    Neuromuscul Disord; 2010 Jan; 20(1):57-60. PubMed ID: 19854055
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  • 10. Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.
    Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M.
    Folia Neuropathol; 2014 Jan; 52(4):452-6. PubMed ID: 25574751
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  • 12. The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.
    Cea LA, Bevilacqua JA, Arriagada C, Cárdenas AM, Bigot A, Mouly V, Sáez JC, Caviedes P.
    BMC Cell Biol; 2016 May 24; 17 Suppl 1(Suppl 1):15. PubMed ID: 27229680
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  • 14. 1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.
    De Luna N, Díaz-Manera J, Paradas C, Iturriaga C, Rojas-García R, Araque J, Genebriera M, Gich I, Illa I, Gallardo E.
    Mol Ther; 2012 Oct 24; 20(10):1988-97. PubMed ID: 22910291
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  • 15. Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].
    Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA.
    Muscle Nerve; 2013 May 24; 47(5):740-7. PubMed ID: 23519732
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  • 16. Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
    De Luna N, Freixas A, Gallano P, Caselles L, Rojas-García R, Paradas C, Nogales G, Dominguez-Perles R, Gonzalez-Quereda L, Vílchez JJ, Márquez C, Bautista J, Guerrero A, Salazar JA, Pou A, Illa I, Gallardo E.
    Neuromuscul Disord; 2007 Jan 24; 17(1):69-76. PubMed ID: 17070050
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  • 17. Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis.
    Angelini C, Grisold W, Nigro V.
    Acta Myol; 2011 Dec 24; 30(3):185-7. PubMed ID: 22616201
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  • 18. Late onset in dysferlinopathy widens the clinical spectrum.
    Klinge L, Dean AF, Kress W, Dixon P, Charlton R, Müller JS, Anderson LV, Straub V, Barresi R, Lochmüller H, Bushby K.
    Neuromuscul Disord; 2008 Apr 24; 18(4):288-90. PubMed ID: 18396043
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  • 19. Lipid accumulation in dysferlin-deficient muscles.
    Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T.
    Am J Pathol; 2014 Jun 24; 184(6):1668-76. PubMed ID: 24685690
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  • 20. Dysferlinopathy in Iran: Clinical and genetic report.
    Fatehi F, Nafissi S, Urtizberea JA, Blanck-Labelle V, Lévy N, Krahn M, Dbouk MB, Attarian S.
    J Neurol Sci; 2015 Dec 15; 359(1-2):256-9. PubMed ID: 26671124
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