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181 related items for PubMed ID: 32499372

  • 1. Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.
    Elbaz M, Ruiz A, Nicolay S, Tupini C, Bachmann C, Eckhardt J, Benucci S, Pelczar P, Treves S, Zorzato F.
    J Biol Chem; 2020 Jul 24; 295(30):10331-10339. PubMed ID: 32499372
    [Abstract] [Full Text] [Related]

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  • 3. Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.
    Eckhardt J, Ruiz A, Koenig S, Frieden M, Meier H, Schmidt A, Treves S, Zorzato F.
    Elife; 2023 Mar 02; 12():. PubMed ID: 36862731
    [Abstract] [Full Text] [Related]

  • 4. Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors.
    Ruiz A, Benucci S, Duthaler U, Bachmann C, Franchini M, Noreen F, Pietrangelo L, Protasi F, Treves S, Zorzato F.
    Elife; 2022 Mar 03; 11():. PubMed ID: 35238775
    [Abstract] [Full Text] [Related]

  • 5. Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.
    Eckhardt J, Bachmann C, Benucci S, Elbaz M, Ruiz A, Zorzato F, Treves S.
    Hum Mol Genet; 2020 May 28; 29(8):1330-1339. PubMed ID: 32242214
    [Abstract] [Full Text] [Related]

  • 6. Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.
    Elbaz M, Ruiz A, Eckhardt J, Pelczar P, Muntoni F, Boncompagni S, Treves S, Zorzato F.
    Hum Mol Genet; 2019 Jun 01; 28(11):1872-1884. PubMed ID: 30689883
    [Abstract] [Full Text] [Related]

  • 7. Cloning and characterization of fiber type-specific ryanodine receptor isoforms in skeletal muscles of fish.
    Franck JP, Morrissette J, Keen JE, Londraville RL, Beamsley M, Block BA.
    Am J Physiol; 1998 Aug 01; 275(2):C401-15. PubMed ID: 9688594
    [Abstract] [Full Text] [Related]

  • 8. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
    Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, Moore GE, Muntoni F.
    Am J Hum Genet; 2006 Nov 01; 79(5):859-68. PubMed ID: 17033962
    [Abstract] [Full Text] [Related]

  • 9. Characterization of RyR1-slow, a ryanodine receptor specific to slow-twitch skeletal muscle.
    Morrissette J, Xu L, Nelson A, Meissner G, Block BA.
    Am J Physiol Regul Integr Comp Physiol; 2000 Nov 01; 279(5):R1889-98. PubMed ID: 11049875
    [Abstract] [Full Text] [Related]

  • 10. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
    Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN.
    Hum Mutat; 2010 Jul 01; 31(7):E1544-50. PubMed ID: 20583297
    [Abstract] [Full Text] [Related]

  • 11. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
    Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J.
    Hum Mutat; 2008 May 01; 29(5):670-8. PubMed ID: 18253926
    [Abstract] [Full Text] [Related]

  • 12. A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
    Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, Lindsay C, Pelczar P, Pietrangelo L, Protasi F, Treves S, Zorzato F.
    J Gen Physiol; 2024 Apr 01; 156(4):. PubMed ID: 38445312
    [Abstract] [Full Text] [Related]

  • 13. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
    Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F.
    Brain; 2007 Aug 01; 130(Pt 8):2024-36. PubMed ID: 17483490
    [Abstract] [Full Text] [Related]

  • 14. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
    Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.
    Hum Mol Genet; 2000 Nov 01; 9(18):2599-608. PubMed ID: 11063719
    [Abstract] [Full Text] [Related]

  • 15. Inhibition of ryanodine receptor 1 in fast skeletal muscle fibers induces a fast-to-slow muscle fiber type transition.
    Jordan T, Jiang H, Li H, DiMario JX.
    J Cell Sci; 2004 Dec 01; 117(Pt 25):6175-83. PubMed ID: 15564379
    [Abstract] [Full Text] [Related]

  • 16. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
    Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.
    Neurology; 2005 Dec 27; 65(12):1930-5. PubMed ID: 16380615
    [Abstract] [Full Text] [Related]

  • 17. Mouse model of severe recessive RYR1-related myopathy.
    Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei LaPierre L, Dowling JJ, Dirksen RT.
    Hum Mol Genet; 2019 Sep 15; 28(18):3024-3036. PubMed ID: 31107960
    [Abstract] [Full Text] [Related]

  • 18. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
    Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E.
    Neuromuscul Disord; 2017 Nov 15; 27(11):975-985. PubMed ID: 28818389
    [Abstract] [Full Text] [Related]

  • 19. Characterization of recessive RYR1 mutations in core myopathies.
    Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S.
    Hum Mol Genet; 2006 Sep 15; 15(18):2791-803. PubMed ID: 16940308
    [Abstract] [Full Text] [Related]

  • 20. Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
    Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S.
    Hum Mol Genet; 2017 Jan 15; 26(2):320-332. PubMed ID: 28007904
    [Abstract] [Full Text] [Related]

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