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Journal Abstract Search

477 related items for PubMed ID: 16816913

  • 21. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
    Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F.
    Neuromuscul Disord; 2005 Feb; 15(2):164-71. PubMed ID: 15694138
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  • 22. Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
    Garnham CP, Hanna RA, Chou JS, Low KE, Gourlay K, Campbell RL, Beckmann JS, Davies PL.
    Biochemistry; 2009 Apr 21; 48(15):3457-67. PubMed ID: 19226146
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  • 24. Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: "double trouble" overlapping syndrome?
    Simeoni S, Russo V, Gigli GL, Scalise A.
    J Neurol Sci; 2015 Jan 15; 348(1-2):292-3. PubMed ID: 25528007
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  • 26. NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A.
    Benayoun B, Baghdiguian S, Lajmanovich A, Bartoli M, Daniele N, Gicquel E, Bourg N, Raynaud F, Pasquier MA, Suel L, Lochmuller H, Lefranc G, Richard I.
    FASEB J; 2008 May 15; 22(5):1521-9. PubMed ID: 18073330
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  • 27. Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
    Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M.
    J Neuromuscul Dis; 2021 May 15; 8(1):125-136. PubMed ID: 33337384
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  • 28. Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.
    Peddareddygari LR, Surgan V, Grewal RP.
    J Clin Neuromuscul Dis; 2010 Dec 15; 12(2):62-5. PubMed ID: 21386772
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  • 31. Titinopathies: what happens when a big gene mutates in a big family?
    Selcen D, Bushby K.
    Neurology; 2005 Feb 22; 64(4):596-7. PubMed ID: 15728278
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  • 32. Limb-girdle muscular dystrophy type 2A.
    Pradhan S.
    Neurol India; 2010 Feb 22; 58(4):509-11. PubMed ID: 20739783
    [No Abstract] [Full Text] [Related]

  • 33. [Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A].
    Dadali EL, Shagina OA, Ryzhkova OP, Rudenskaia GE, Fedotov VP, Poliakov AV.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2010 Feb 22; 110(4):79-83. PubMed ID: 20517216
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  • 34. [Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A].
    Rudenskaya GE, Bulakh MV, Milovidova TB, Shchagina OA.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2018 Feb 22; 118(11):72-76. PubMed ID: 30585608
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  • 35. Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.
    Kolski HK, Hawkins C, Zatz M, de Paula F, Biggar D, Alman B, Vajsar J.
    Neuropathology; 2008 Jun 22; 28(3):264-8. PubMed ID: 18031465
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  • 36. Limb-girdle muscular dystrophy 2A.
    Gallardo E, Saenz A, Illa I.
    Handb Clin Neurol; 2011 Jun 22; 101():97-110. PubMed ID: 21496626
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  • 37. A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.
    Matsubara E, Tsuchiya A, Minami N, Nishino I, Pappolla MA, Shoji M, Abe K.
    Eur J Neurol; 2007 Jul 22; 14(7):819-22. PubMed ID: 17594342
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  • 38. Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
    Sáenz A, Ono Y, Sorimachi H, Goicoechea M, Leturcq F, Blázquez L, García-Bragado F, Marina A, Poza JJ, Azpitarte M, Doi N, Urtasun M, Kaplan JC, López de Munain A.
    Muscle Nerve; 2011 Nov 22; 44(5):710-4. PubMed ID: 22006685
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  • 39. Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.
    Zhang C, Zheng X, Lu D, Xu L, Che F, Liu S.
    Mol Med Rep; 2021 Jun 22; 23(6):. PubMed ID: 33899113
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  • 40. Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
    Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC.
    PLoS One; 2017 Jun 22; 12(1):e0170280. PubMed ID: 28103310
    [Abstract] [Full Text] [Related]

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