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Journal Abstract Search

361 related items for PubMed ID: 22980763

  • 21.
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  • 22. The limb-girdle muscular dystrophies.
    Wicklund MP, Kissel JT.
    Neurol Clin; 2014 Aug; 32(3):729-49, ix. PubMed ID: 25037088
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  • 23. Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.
    Mahjneh I, Bashir R, Kiuru-Enari S, Linssen W, Lamminen A, Visser Md.
    Neuromuscul Disord; 2012 Oct 01; 22 Suppl 2():S130-6. PubMed ID: 22980764
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  • 25. Muscle MRI in Becker muscular dystrophy.
    Tasca G, Iannaccone E, Monforte M, Masciullo M, Bianco F, Laschena F, Ottaviani P, Pelliccioni M, Pane M, Mercuri E, Ricci E.
    Neuromuscul Disord; 2012 Oct 01; 22 Suppl 2():S100-6. PubMed ID: 22980760
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  • 26. Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
    Jarraya M, Quijano-Roy S, Monnier N, Béhin A, Avila-Smirnov D, Romero NB, Allamand V, Richard P, Barois A, May A, Estournet B, Mercuri E, Carlier PG, Carlier RY.
    Neuromuscul Disord; 2012 Oct 01; 22 Suppl 2():S137-47. PubMed ID: 22980765
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  • 29. Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy.
    Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV.
    Acta Neurol Scand; 2004 Aug 01; 110(2):87-93. PubMed ID: 15242415
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  • 30. First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features.
    Hu B, Xiong L, Zhou Y, Lu X, Xiong Q, Liu Q, Qi X, Ding W.
    Medicine (Baltimore); 2018 Sep 01; 97(38):e12506. PubMed ID: 30235762
    [Abstract] [Full Text] [Related]

  • 31. 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 01; 64(7):1038-41. PubMed ID: 17620497
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  • 34. Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.
    Mahajan S, Dhall A, Jassal B, Saluja A, Faruq M, Suri V, Rajan R, Vishnu VY, Sharma MC.
    Neurol India; 2022 Jul 01; 70(5):2169-2173. PubMed ID: 36352632
    [Abstract] [Full Text] [Related]

  • 35. ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
    Jarmula A, Łusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, Töpf A, Straub V, Rosiak E, Szczepaniak K, Dunin-Horkawicz S, Maruszak A, Kaminska AM, Redowicz MJ.
    Sci Rep; 2019 Aug 08; 9(1):11533. PubMed ID: 31395899
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  • 36. [Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].
    Perez F, Vital A, Martin-Negrier ML, Ferrer X, Sole G.
    Rev Neurol (Paris); 2010 May 08; 166(5):502-8. PubMed ID: 20044116
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  • 37. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
    Jaka O, Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A.
    Muscle Nerve; 2014 Sep 08; 50(3):448-53. PubMed ID: 24715573
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  • 38. 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 08; 16(7):432-6. PubMed ID: 16730439
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  • 39. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
    Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B.
    Am J Hum Genet; 2010 Feb 12; 86(2):213-21. PubMed ID: 20096397
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  • 40. LGMD2L with bone affection: overlapping phenotype of dominant and recessive ANO5-induced disease.
    Witting N, Duno M, Born AP, Vissing J.
    Muscle Nerve; 2012 Nov 12; 46(5):829-30. PubMed ID: 23055322
    [No Abstract] [Full Text] [Related]

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