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Journal Abstract Search

237 related items for PubMed ID: 35293586

  • 1. Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.
    Espinosa KG, Geissah S, Groom L, Volpatti J, Scott IC, Dirksen RT, Zhao M, Dowling JJ.
    Dis Model Mech; 2022 May 01; 15(5):. PubMed ID: 35293586
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 08; 190(12):2453-2463. PubMed ID: 32919980
    [Abstract] [Full Text] [Related]

  • 4. A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
    Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Lainé J, Romero NB, Guicheney P, Bitoun M.
    Hum Mol Genet; 2010 Dec 15; 19(24):4820-36. PubMed ID: 20858595
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
    Massana Muñoz X, Buono S, Koebel P, Laporte J, Cowling BS.
    Hum Mol Genet; 2019 Dec 15; 28(24):4067-4077. PubMed ID: 31628461
    [Abstract] [Full Text] [Related]

  • 7. SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling.
    Huntoon V, Widrick JJ, Sanchez C, Rosen SM, Kutchukian C, Cao S, Pierson CR, Liu X, Perrella MA, Beggs AH, Jacquemond V, Agrawal PB.
    Hum Mol Genet; 2018 May 01; 27(9):1608-1617. PubMed ID: 29474540
    [Abstract] [Full Text] [Related]

  • 8. 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 May 01; 5(2):257-260. PubMed ID: 29614691
    [Abstract] [Full Text] [Related]

  • 9. Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.
    Wang H, Castiglioni C, Kaçar Bayram A, Fattori F, Pekuz S, Araneda D, Per H, Erazo R, Gümüş H, Zorludemir S, Becker K, Ortega X, Bevilacqua JA, Bertini E, Cirak S.
    Neuromuscul Disord; 2017 Sep 01; 27(9):836-842. PubMed ID: 28624463
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 43(4):2803-2811. PubMed ID: 34595679
    [Abstract] [Full Text] [Related]

  • 11. SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.
    Luo S, Li Q, Lin J, Murphy Q, Marty I, Zhang Y, Kazerounian S, Agrawal PB.
    Hum Mol Genet; 2021 Feb 25; 29(24):3882-3891. PubMed ID: 33355670
    [Abstract] [Full Text] [Related]

  • 12. Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.
    Liewluck T, Lovell TL, Bite AV, Engel AG.
    Neuromuscul Disord; 2010 Dec 25; 20(12):801-4. PubMed ID: 20817456
    [Abstract] [Full Text] [Related]

  • 13. Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.
    Hanisch F, Müller T, Dietz A, Bitoun M, Kress W, Weis J, Stoltenburg G, Zierz S.
    J Neurol; 2011 Jun 25; 258(6):1085-90. PubMed ID: 21221624
    [Abstract] [Full Text] [Related]

  • 14. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
    Qualls AE, Donkervoort S, Herkert JC, D'gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB.
    Muscle Nerve; 2019 Mar 25; 59(3):357-362. PubMed ID: 30412272
    [Abstract] [Full Text] [Related]

  • 15. Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.
    Zhao Y, Zhao Z, Shen H, Bing Q, Hu J.
    Neurol Sci; 2018 Dec 25; 39(12):2043-2051. PubMed ID: 30232666
    [Abstract] [Full Text] [Related]

  • 16. Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.
    Silva-Rojas R, Nattarayan V, Jaque-Fernandez F, Gomez-Oca R, Menuet A, Reiss D, Goret M, Messaddeq N, Lionello VM, Kretz C, Cowling BS, Jacquemond V, Laporte J.
    Mol Ther; 2022 Feb 02; 30(2):868-880. PubMed ID: 34371181
    [Abstract] [Full Text] [Related]

  • 17. Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
    Gibbs EM, Clarke NF, Rose K, Oates EC, Webster R, Feldman EL, Dowling JJ.
    J Mol Med (Berl); 2013 Jun 02; 91(6):727-37. PubMed ID: 23338057
    [Abstract] [Full Text] [Related]

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  • 19. MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.
    Giraud Q, Spiegelhalter C, Messaddeq N, Laporte J.
    Brain; 2023 Oct 03; 146(10):4158-4173. PubMed ID: 37490306
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