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Journal Abstract Search

201 related items for PubMed ID: 33335567

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  • 23. Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
    Khan A, Wang R, Han S, Umair M, Abbas S, Khan MI, Alshabeeb MA, Alfadhel M, Zhang X.
    BMC Med Genet; 2019 Oct 29; 20(1):166. PubMed ID: 31664938
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  • 28. Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.
    Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Foley AR, Bönnemann CG.
    J Neuromuscul Dis; 2019 Oct 29; 6(4):475-483. PubMed ID: 31498126
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  • 29. 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 29; 22(5):1521-9. PubMed ID: 18073330
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  • 30. CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
    Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B.
    Hum Mutat; 2022 Oct 29; 43(10):1347-1353. PubMed ID: 35731190
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  • 31. Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
    Pathak P, Sharma MC, Sarkar C, Jha P, Suri V, Mohd H, Singh S, Bhatia R, Gulati S.
    Neurol India; 2010 Oct 29; 58(4):549-54. PubMed ID: 20739790
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  • 32. Molecular genetic study of Calpainopathy in Iran.
    Mojbafan M, Khajeh A, Habibi H, Bagherian H, Zeinali S.
    Gene; 2018 Nov 30; 677():259-265. PubMed ID: 30056071
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  • 33. Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.
    Ramos E, Pardo S, Mas Rodríguez MF, Vélez J.
    J Clin Neuromuscul Dis; 2015 Dec 30; 17(2):59-62. PubMed ID: 26583491
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  • 34. Muscle pathology in 31 patients with calpain 3 gene mutations.
    Nadaj-Pakleza AA, Dorobek M, Nestorowicz K, Ryniewicz B, Szmidt-Sałkowska E, Kamińska AM.
    Neurol Neurochir Pol; 2013 Dec 30; 47(3):214-22. PubMed ID: 23821418
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  • 35. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
    Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B.
    BMC Musculoskelet Disord; 2016 May 04; 17():200. PubMed ID: 27142102
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  • 36. Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
    Zhong H, Zheng Y, Zhao Z, Lin P, Xi J, Zhu W, Lin J, Lu J, Yu M, Zhang W, Lv H, Yan C, Hu J, Wang Z, Lu J, Zhao C, Yuan Y, Luo S.
    J Med Genet; 2021 Nov 04; 58(11):729-736. PubMed ID: 32994280
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  • 37. [Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].
    Ding L, Tang S, Li H, Xu X, Luan Z, Zhang Q, Lyu J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Feb 10; 36(2):136-139. PubMed ID: 30703231
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  • 38. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
    Hermanová M, Zapletalová E, Sedlácková J, Chrobáková T, Letocha O, Kroupová I, Zámecník J, Vondrácek P, Mazanec R, Maríková T, Vohánka S, Fajkusová L.
    Muscle Nerve; 2006 Mar 10; 33(3):424-32. PubMed ID: 16372320
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  • 39. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
    Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M.
    Am J Med Genet; 1999 Feb 19; 82(5):392-8. PubMed ID: 10069710
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  • 40. Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos.
    Quilacio JMS, Rosales RL, Ampil ER.
    Cureus; 2022 Jan 19; 14(1):e21353. PubMed ID: 35198268
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