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Journal Abstract Search

168 related items for PubMed ID: 20535123

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  • 24. 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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  • 25. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
    Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B.
    Arch Neurol; 2007 Aug 12; 64(8):1176-82. PubMed ID: 17698709
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  • 28. 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 12; 250(12):1431-8. PubMed ID: 14673575
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  • 29. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.
    Piccolo F, Moore SA, Ford GC, Campbell KP.
    Ann Neurol; 2000 Dec 12; 48(6):902-12. PubMed ID: 11117547
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  • 30. Analysis of the DYSF mutational spectrum in a large cohort of patients.
    Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N.
    Hum Mutat; 2009 Feb 12; 30(2):E345-75. PubMed ID: 18853459
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  • 34. Developmental and tissue-specific regulation of a novel dysferlin isoform.
    Salani S, Lucchiari S, Fortunato F, Crimi M, Corti S, Locatelli F, Bossolasco P, Bresolin N, Comi GP.
    Muscle Nerve; 2004 Sep 12; 30(3):366-74. PubMed ID: 15318348
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  • 35. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
    Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y.
    J Neurol Neurosurg Psychiatry; 2013 Apr 12; 84(4):433-40. PubMed ID: 23243261
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  • 36. Loss of podocyte dysferlin expression is associated with minimal change nephropathy.
    Izzedine H, Brocheriou I, Eymard B, Le Charpentier M, Romero NB, Lenaour G, Bourry E, Deray G.
    Am J Kidney Dis; 2006 Jul 12; 48(1):143-50. PubMed ID: 16797397
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  • 37. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
    Chrobáková T, Hermanová M, Kroupová I, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Stanek J, Havlová M, Fajkusová L.
    Neuromuscul Disord; 2004 Oct 12; 14(10):659-65. PubMed ID: 15351423
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  • 38. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
    Udd B, Vihola A, Sarparanta J, Richard I, Hackman P.
    Neurology; 2005 Feb 22; 64(4):636-42. PubMed ID: 15728284
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  • 40. Dysferlinopathy: a clinical and histopathological study of 28 patients from India.
    Nalini A, Gayathri N.
    Neurol India; 2008 Feb 22; 56(3):379-85; discussion 386-7. PubMed ID: 18974568
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