These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

296 related articles for article (PubMed ID: 20080402)

  • 1. Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
    Zhou H; Lillis S; Loy RE; Ghassemi F; Rose MR; Norwood F; Mills K; Al-Sarraj S; Lane RJ; Feng L; Matthews E; Sewry CA; Abbs S; Buk S; Hanna M; Treves S; Dirksen RT; Meissner G; Muntoni F; Jungbluth H
    Neuromuscul Disord; 2010 Mar; 20(3):166-73. PubMed ID: 20080402
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.
    Avila G; Dirksen RT
    J Gen Physiol; 2001 Sep; 118(3):277-90. PubMed ID: 11524458
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 65(12):1930-5. PubMed ID: 16380615
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels.
    Bannister RA; Estève E; Eltit JM; Pessah IN; Allen PD; López JR; Beam KG
    J Gen Physiol; 2010 Jun; 135(6):629-40. PubMed ID: 20479108
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ca2+-dependent excitation-contraction coupling triggered by the heterologous cardiac/brain DHPR beta2a-subunit in skeletal myotubes.
    Sheridan DC; Carbonneau L; Ahern CA; Nataraj P; Coronado R
    Biophys J; 2003 Dec; 85(6):3739-57. PubMed ID: 14645065
    [TBL] [Abstract][Full Text] [Related]  

  • 6. RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
    Zhou H; Rokach O; Feng L; Munteanu I; Mamchaoui K; Wilmshurst JM; Sewry C; Manzur AY; Pillay K; Mouly V; Duchen M; Jungbluth H; Treves S; Muntoni F
    Hum Mutat; 2013 Jul; 34(7):986-96. PubMed ID: 23553787
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
    Matthews E; Labrum R; Sweeney MG; Sud R; Haworth A; Chinnery PF; Meola G; Schorge S; Kullmann DM; Davis MB; Hanna MG
    Neurology; 2009 May; 72(18):1544-7. PubMed ID: 19118277
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex].
    Lunardi J; Monnier N
    Rev Neurol (Paris); 2004 May; 160(5 Pt 2):S70-7. PubMed ID: 15269663
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ryanodine modification of RyR1 retrogradely affects L-type Ca(2+) channel gating in skeletal muscle.
    Bannister RA; Beam KG
    J Muscle Res Cell Motil; 2009; 30(5-6):217-23. PubMed ID: 19802526
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Interaction between the dihydropyridine receptor Ca2+ channel beta-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling.
    Cheng W; Altafaj X; Ronjat M; Coronado R
    Proc Natl Acad Sci U S A; 2005 Dec; 102(52):19225-30. PubMed ID: 16357209
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.
    Weiss RG; O'Connell KM; Flucher BE; Allen PD; Grabner M; Dirksen RT
    Am J Physiol Cell Physiol; 2004 Oct; 287(4):C1094-102. PubMed ID: 15201141
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 9(18):2599-608. PubMed ID: 11063719
    [TBL] [Abstract][Full Text] [Related]  

  • 13. STAC3 incorporation into skeletal muscle triads occurs independent of the dihydropyridine receptor.
    Campiglio M; Kaplan MM; Flucher BE
    J Cell Physiol; 2018 Dec; 233(12):9045-9051. PubMed ID: 30071129
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene.
    Pietrini V; Marbini A; Galli L; Sorrentino V
    J Neurol; 2004 Jan; 251(1):102-4. PubMed ID: 14999498
    [No Abstract]   [Full Text] [Related]  

  • 15. Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.
    Lefebvre R; Legrand C; Groom L; Dirksen RT; Jacquemond V
    PLoS One; 2013; 8(1):e54042. PubMed ID: 23308296
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ca
    Campiglio M; Dyrda A; Tuinte WE; Török E
    Handb Exp Pharmacol; 2023; 279():3-39. PubMed ID: 36592225
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.
    Tammaro A; Di Martino A; Bracco A; Cozzolino S; Savoia G; Andria B; Cannavo A; Spagnuolo M; Piluso G; Aurino S; Nigro V
    Clin Genet; 2011 May; 79(5):438-47. PubMed ID: 20681998
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice.
    Andronache Z; Hamilton SL; Dirksen RT; Melzer W
    Proc Natl Acad Sci U S A; 2009 Mar; 106(11):4531-6. PubMed ID: 19246389
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
    Schartner V; Romero NB; Donkervoort S; Treves S; Munot P; Pierson TM; Dabaj I; Malfatti E; Zaharieva IT; Zorzato F; Abath Neto O; Brochier G; Lornage X; Eymard B; Taratuto AL; Böhm J; Gonorazky H; Ramos-Platt L; Feng L; Phadke R; Bharucha-Goebel DX; Sumner CJ; Bui MT; Lacene E; Beuvin M; Labasse C; Dondaine N; Schneider R; Thompson J; Boland A; Deleuze JF; Matthews E; Pakleza AN; Sewry CA; Biancalana V; Quijano-Roy S; Muntoni F; Fardeau M; Bönnemann CG; Laporte J
    Acta Neuropathol; 2017 Apr; 133(4):517-533. PubMed ID: 28012042
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational analysis of putative calcium binding motifs within the skeletal ryanodine receptor isoform, RyR1.
    Fessenden JD; Feng W; Pessah IN; Allen PD
    J Biol Chem; 2004 Dec; 279(51):53028-35. PubMed ID: 15469935
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.