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 *

158 related articles for article (PubMed ID: 18948004)

  • 21. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
    Ferreiro A; Monnier N; Romero NB; Leroy JP; Bönnemann C; Haenggeli CA; Straub V; Voss WD; Nivoche Y; Jungbluth H; Lemainque A; Voit T; Lunardi J; Fardeau M; Guicheney P
    Ann Neurol; 2002 Jun; 51(6):750-9. PubMed ID: 12112081
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.
    Jurynec MJ; Xia R; Mackrill JJ; Gunther D; Crawford T; Flanigan KM; Abramson JJ; Howard MT; Grunwald DJ
    Proc Natl Acad Sci U S A; 2008 Aug; 105(34):12485-90. PubMed ID: 18713863
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Structural congenital myopathies].
    Erazo-Torricelli R
    Rev Neurol; 2013 Sep; 57 Suppl 1():S53-64. PubMed ID: 23897157
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7-9 November 2003, Naarden, The Netherlands.
    Goebel H; Fardeau M
    Neuromuscul Disord; 2004 Nov; 14(11):767-73. PubMed ID: 15482963
    [No Abstract]   [Full Text] [Related]  

  • 25. Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
    Cullup T; Lamont PJ; Cirak S; Damian MS; Wallefeld W; Gooding R; Tan SV; Sheehan J; Muntoni F; Abbs S; Sewry CA; Dubowitz V; Laing NG; Jungbluth H
    Neuromuscul Disord; 2012 Dec; 22(12):1096-104. PubMed ID: 22784669
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Triadopathies: an emerging class of skeletal muscle diseases.
    Dowling JJ; Lawlor MW; Dirksen RT
    Neurotherapeutics; 2014 Oct; 11(4):773-85. PubMed ID: 25168790
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Core myopathies and malignant hyperthermia susceptibility: a review.
    Brislin RP; Theroux MC
    Paediatr Anaesth; 2013 Sep; 23(9):834-41. PubMed ID: 23617272
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Selenoprotein N in skeletal muscle: from diseases to function.
    Castets P; Lescure A; Guicheney P; Allamand V
    J Mol Med (Berl); 2012 Oct; 90(10):1095-107. PubMed ID: 22527882
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Pathologic quiz case: a slow and awkward child. Central core disease.
    Giampetro DM; Prayson RA; Friedman NR; Staugaitis SM
    Arch Pathol Lab Med; 2004 Apr; 128(4):481-2. PubMed ID: 15043482
    [No Abstract]   [Full Text] [Related]  

  • 30. Central core myopathy with autophagy.
    Cotta A; Paim JF; Pavanello RCM; Nogueira L; Leão LG; Xavier-Neto R; Navarro MM; Carvalho E; Valicek J; Silveira EB; Takata RI; Vainzof M
    Muscle Nerve; 2017 Aug; 56(2):E8-E9. PubMed ID: 28164363
    [No Abstract]   [Full Text] [Related]  

  • 31. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
    Davis MR; Haan E; Jungbluth H; Sewry C; North K; Muntoni F; Kuntzer T; Lamont P; Bankier A; Tomlinson P; Sánchez A; Walsh P; Nagarajan L; Oley C; Colley A; Gedeon A; Quinlivan R; Dixon J; James D; Müller CR; Laing NG
    Neuromuscul Disord; 2003 Feb; 13(2):151-7. PubMed ID: 12565913
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.
    Romero NB; Herasse M; Monnier N; Leroy JP; Fischer D; Ferreiro A; Viollet L; Eymard B; Laforêt P; Monges S; Lubieniecki F; Taratuto AL; Guicheney P; Lunardi J; Fardeau M
    Acta Myol; 2005 Oct; 24(2):70-3. PubMed ID: 16550918
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV; Quane KA; Lynch PJ
    Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.
    Rederstorff M; Castets P; Arbogast S; Lainé J; Vassilopoulos S; Beuvin M; Dubourg O; Vignaud A; Ferry A; Krol A; Allamand V; Guicheney P; Ferreiro A; Lescure A
    PLoS One; 2011; 6(8):e23094. PubMed ID: 21858002
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Ryanodine receptor channelopathies.
    Benkusky NA; Farrell EF; Valdivia HH
    Biochem Biophys Res Commun; 2004 Oct; 322(4):1280-5. PubMed ID: 15336975
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands.
    Allamand V; Merlini L; Bushby K;
    Neuromuscul Disord; 2010 May; 20(5):346-54. PubMed ID: 20211562
    [No Abstract]   [Full Text] [Related]  

  • 37. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
    Bachmann C; Noreen F; Voermans NC; Schär PL; Vissing J; Fock JM; Bulk S; Kusters B; Moore SA; Beggs AH; Mathews KD; Meyer M; Genetti CA; Meola G; Cardani R; Mathews E; Jungbluth H; Muntoni F; Zorzato F; Treves S
    Hum Mutat; 2019 Jul; 40(7):962-974. PubMed ID: 30932294
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Selenoprotein N deficiency in mice is associated with abnormal lung development.
    Moghadaszadeh B; Rider BE; Lawlor MW; Childers MK; Grange RW; Gupta K; Boukedes SS; Owen CA; Beggs AH
    FASEB J; 2013 Apr; 27(4):1585-99. PubMed ID: 23325319
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.
    Pepe G; de Visser M; Bertini E; Bushby K; Vanegas OC; Chu ML; Lattanzi G; Merlini L; Muntoni F; Urtizberea A
    Neuromuscul Disord; 2002 Mar; 12(3):296-305. PubMed ID: 11801404
    [No Abstract]   [Full Text] [Related]  

  • 40. Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) sponsored International Workshop. December 12-14, 1997, Naarden, The Netherlands.
    Goebel HH; Anderson JR
    Neuromuscul Disord; 1999 Jan; 9(1):50-7. PubMed ID: 10063836
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.