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Items: 20

1.

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG.

Neurology. 2013 Apr 23;80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. Epub 2013 Apr 3. Erratum in: Neurology. 2013 May 28;80(22):2081. Zukosky, Kristin [corrected to Zukosky, Kristen].

2.

Multi-minicore Disease.

Jungbluth H.

Orphanet J Rare Dis. 2007 Jul 13;2:31. Review.

3.

[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. Review. French.

PMID:
15269663
4.

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

McCarthy TV, Quane KA, Lynch PJ.

Hum Mutat. 2000;15(5):410-7. Review.

PMID:
10790202
5.

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. Review.

PMID:
16550918
6.

[Structural congenital myopathies].

Erazo-Torricelli R.

Rev Neurol. 2013 Sep 6;57 Suppl 1:S53-64. Review. Spanish.

7.

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.

Treves S, Jungbluth H, Muntoni F, Zorzato F.

Curr Opin Pharmacol. 2008 Jun;8(3):319-26. doi: 10.1016/j.coph.2008.01.005. Epub 2008 Mar 4. Review.

PMID:
18313359
8.

Central core disease.

Jungbluth H.

Orphanet J Rare Dis. 2007 May 15;2:25. Review.

9.

Mutations in RYR1 in malignant hyperthermia and central core disease.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.

Hum Mutat. 2006 Oct;27(10):977-89. Review.

PMID:
16917943
10.

Core myopathies.

Jungbluth H, Sewry CA, Muntoni F.

Semin Pediatr Neurol. 2011 Dec;18(4):239-49. doi: 10.1016/j.spen.2011.10.005. Review.

PMID:
22172419
11.

Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?

Mathews KD, Moore SA.

Arch Neurol. 2004 Jan;61(1):27-9. Review. No abstract available.

PMID:
14732615
12.

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

Duarte ST, Oliveira J, Santos R, Pereira P, Barroso C, Conceição I, Evangelista T.

Muscle Nerve. 2011 Jul;44(1):102-8. doi: 10.1002/mus.22009. Review.

PMID:
21674524
13.

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

Dirksen RT, Avila G.

Trends Cardiovasc Med. 2002 Jul;12(5):189-97. Review.

PMID:
12161072
14.

Core myopathies and malignant hyperthermia susceptibility: a review.

Brislin RP, Theroux MC.

Paediatr Anaesth. 2013 Sep;23(9):834-41. doi: 10.1111/pan.12175. Epub 2013 Apr 25. Review.

PMID:
23617272
15.

Functional effects of mutations identified in patients with multiminicore disease.

Zorzato F, Jungbluth H, Zhou H, Muntoni F, Treves S.

IUBMB Life. 2007 Jan;59(1):14-20. Review.

16.
17.

Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature.

Talwalkar SS, Parker JR, Heffner RR, Parker JC.

Clin Neuropathol. 2006 Jul-Aug;25(4):180-4. Review.

PMID:
16866299
18.

[Congenital myopathies].

Cabello A, Ricoy-Campo JR.

Rev Neurol. 2003 Oct 16-31;37(8):779-86. Review. Spanish.

19.

Centronuclear (myotubular) myopathy.

Jungbluth H, Wallgren-Pettersson C, Laporte J.

Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Review.

20.

Ryanodine receptor channelopathies.

Betzenhauser MJ, Marks AR.

Pflugers Arch. 2010 Jul;460(2):467-80. doi: 10.1007/s00424-010-0794-4. Epub 2010 Feb 24. Review.

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