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Journal Abstract Search

239 related items for PubMed ID: 33926407

  • 1. Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.
    Zhang G, Xu M, Huang T, Lin W, Chen J, Chen W, Chang X.
    BMC Pediatr; 2021 Apr 29; 21(1):209. PubMed ID: 33926407
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  • 4. Novel SPEG variant cause centronuclear myopathy in China.
    Tang J, Ma W, Chen Y, Jiang R, Zeng Q, Tan J, Jiang H, Li Q, Zhang VW, Wang J, Tang H, Luo L.
    J Clin Lab Anal; 2020 Feb 29; 34(2):e23054. PubMed ID: 31625632
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  • 5. Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
    Lornage X, Sabouraud P, Lannes B, Gaillard D, Schneider R, Deleuze JF, Boland A, Thompson J, Böhm J, Biancalana V, Laporte J.
    J Neuromuscul Dis; 2018 Feb 29; 5(2):257-260. PubMed ID: 29614691
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  • 6. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
    Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH.
    Am J Hum Genet; 2014 Aug 07; 95(2):218-26. PubMed ID: 25087613
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  • 7. A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.
    Gurgel-Giannetti J, Souza LS, Messina de Pádua Andrade GF, Derlene MF, Meira ZMA, Azevedo BVM, Jr WC, Diniz SSL, Carvalhais MB, Oliveira JRS, Uliana L, Bráulio R, Costa PHN, Filho GB, Vainzof M.
    Neuromuscul Disord; 2021 Nov 07; 31(11):1199-1206. PubMed ID: 34742623
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  • 10. DNM2 mutations in Chinese Han patients with centronuclear myopathy.
    Lin P, Liu X, Zhao D, Dai T, Wu H, Gong Y, Yan C.
    Neurol Sci; 2016 Jun 07; 37(6):995-8. PubMed ID: 26908122
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  • 11. Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.
    Jaouadi H, El Louali F, Wanert C, Cano A, Ovaert C, Zaffran S.
    Int J Mol Sci; 2022 May 06; 23(9):. PubMed ID: 35563595
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  • 12. Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature.
    Verma S, Balasubramanian SB.
    J Clin Neuromuscul Dis; 2016 Dec 06; 18(2):84-88. PubMed ID: 27861221
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  • 13. Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.
    Wang Q, Yu M, Xie Z, Liu J, Wang Q, Lv H, Zhang W, Yuan Y, Wang Z.
    Neurol Sci; 2022 Apr 06; 43(4):2803-2811. PubMed ID: 34595679
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  • 15. Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.
    Li Q, Lin J, Rosen SM, Zhang T, Kazerounian S, Luo S, Agrawal PB.
    Am J Pathol; 2020 Dec 06; 190(12):2453-2463. PubMed ID: 32919980
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  • 16. Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation.
    Hanna N, Bouhenni R, Gupta B, Abu-Amero KK, Wollmann R, Edward DP.
    Ophthalmic Genet; 2013 Dec 06; 34(1-2):83-6. PubMed ID: 22924779
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  • 19. Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model.
    Li Q, Lin J, Widrick JJ, Luo S, Li G, Zhang Y, Laporte J, Perrella MA, Liu X, Agrawal PB.
    JCI Insight; 2022 Aug 08; 7(15):. PubMed ID: 35763354
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  • 20. Adult centronuclear myopathies: A hospital-based study.
    Echaniz-Laguna A, Biancalana V, Böhm J, Tranchant C, Mandel JL, Laporte J.
    Rev Neurol (Paris); 2013 Aug 08; 169(8-9):625-31. PubMed ID: 23938035
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