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Journal Abstract Search

447 related items for PubMed ID: 15564033

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  • 3. Magnetic resonance imaging of muscle in nemaline myopathy.
    Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F.
    Neuromuscul Disord; 2004 Dec; 14(12):779-84. PubMed ID: 15564032
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  • 4. Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.
    Fischer D, Herasse M, Ferreiro A, Barragán-Campos HM, Chiras J, Viollet L, Maugenre S, Leroy JP, Monnier N, Lunardi J, Guicheney P, Fardeau M, Romero NB.
    Neurology; 2006 Dec 26; 67(12):2217-20. PubMed ID: 17190947
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  • 5. MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.
    Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, Torigian DA, Jungbluth H, Goebel HH, Bönnemann CG.
    Neuromuscul Disord; 2007 Jan 26; 17(1):28-32. PubMed ID: 17134899
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  • 6. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.
    Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I, Noguchi S, Nishino I.
    Neurology; 2008 Jan 08; 70(2):114-22. PubMed ID: 17538032
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  • 8. Central core disease.
    Jungbluth H.
    Orphanet J Rare Dis; 2007 May 15; 2():25. PubMed ID: 17504518
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  • 9. 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 15; 130(Pt 8):2024-36. PubMed ID: 17483490
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  • 12. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
    Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, Guicheney P, Buj-Bello A, Bönnemann C, Muntoni F.
    Neuromuscul Disord; 2007 Apr 15; 17(4):338-45. PubMed ID: 17376685
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  • 13. [Congenital myopathies].
    Cabello A, Ricoy-Campo JR.
    Rev Neurol; 2007 Apr 15; 37(8):779-86. PubMed ID: 14593641
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  • 14. A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility.
    Taylor A, Lachlan K, Manners RM, Lotery AJ.
    J Clin Neurosci; 2012 Jan 15; 19(1):65-70. PubMed ID: 22030266
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  • 17. Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.
    Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, Lunardi J, Cozzone PJ, Pellissier JF.
    Arch Neurol; 2004 Jan 15; 61(1):106-13. PubMed ID: 14732627
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  • 18. Core myopathies.
    Jungbluth H, Sewry CA, Muntoni F.
    Semin Pediatr Neurol; 2011 Dec 15; 18(4):239-49. PubMed ID: 22172419
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  • 19. Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.
    Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F.
    Arch Neurol; 2011 Sep 15; 68(9):1171-9. PubMed ID: 21911697
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  • 20. Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
    Zullo A, Klingler W, De Sarno C, Ferrara M, Fortunato G, Perrotta G, Gravino E, Di Noto R, Lehmann-Horn F, Melzer W, Salvatore F, Carsana A.
    Hum Mutat; 2009 Apr 15; 30(4):E575-90. PubMed ID: 19191333
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