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Results: 1 to 20 of 25

1.

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 8;70(2):114-22. Epub 2007 May 30.

PMID:
17538032
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Central core disease.

Jungbluth H.

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

PMID:
17504518
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

[Congenital myopathies].

Cabello A, Ricoy-Campo JR.

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

PMID:
14593641
[PubMed - indexed for MEDLINE]
Free Article
7.

Multi-minicore Disease.

Jungbluth H.

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

PMID:
17631035
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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, LaforĂȘt P, Monges S, Lubieniecki F, Taratuto AL, Guicheney P, Lunardi J, Fardeau M.

Acta Myol. 2005 Oct;24(2):70-3. Review.

PMID:
16550918
[PubMed - indexed for MEDLINE]
9.

Myotubular/centronuclear myopathy and central core disease.

Fujimura-Kiyono C, Racz GZ, Nishino I.

Neurol India. 2008 Jul-Sep;56(3):325-32. Review.

PMID:
18974559
[PubMed - indexed for MEDLINE]
Free Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Congenital myopathies/dystrophies.

Riggs JE, Bodensteiner JB, Schochet SS Jr.

Neurol Clin. 2003 Nov;21(4):779-94; v-vi. Review.

PMID:
14743649
[PubMed - indexed for MEDLINE]
13.

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

Treves S, Anderson AA, Ducreux S, Divet A, Bleunven C, Grasso C, Paesante S, Zorzato F.

Neuromuscul Disord. 2005 Oct;15(9-10):577-87. Review.

PMID:
16084090
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
17365175
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Congenital fiber-type disproportion.

Clarke NF.

Semin Pediatr Neurol. 2011 Dec;18(4):264-71. doi: 10.1016/j.spen.2011.10.008. Review.

PMID:
22172422
[PubMed - indexed for MEDLINE]
17.

Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms.

Ogawa Y.

Biochem Biophys Res Commun. 2008 Apr 25;369(1):208-12. Epub 2007 Dec 5. Review.

PMID:
18067858
[PubMed - indexed for MEDLINE]
18.

Muscle imaging in congenital myopathies.

Quijano-Roy S, Carlier RY, Fischer D.

Semin Pediatr Neurol. 2011 Dec;18(4):221-9. doi: 10.1016/j.spen.2011.10.003. Review.

PMID:
22172417
[PubMed - indexed for MEDLINE]
19.

Pathological defects in congenital myopathies.

Sewry CA.

J Muscle Res Cell Motil. 2008;29(6-8):231-8. doi: 10.1007/s10974-008-9155-8. Epub 2008 Dec 30. Review.

PMID:
19115049
[PubMed - indexed for MEDLINE]
20.

Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.

Jeub M, Bitoun M, Guicheney P, Kappes-Horn K, Strach K, Druschky KF, Weis J, Fischer D.

Clin Neuropathol. 2008 Nov-Dec;27(6):430-8. Review.

PMID:
19130742
[PubMed - indexed for MEDLINE]
Free Article

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