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Items: 1 to 20 of 110

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.

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, Lunardi J, Fardeau M.

Brain. 2003 Nov;126(Pt 11):2341-9. Epub 2003 Aug 22.

PMID:
12937085
3.

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, Muntoni F.

Neuromuscul Disord. 2009 May;19(5):344-7. doi: 10.1016/j.nmd.2009.02.005. Epub 2009 Mar 19.

PMID:
19303294
4.

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.

Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi S.

Neuromuscul Disord. 2015 Jul;25(7):567-76. doi: 10.1016/j.nmd.2015.04.007. Epub 2015 Apr 27.

PMID:
25958340
5.

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 1;9(18):2599-608.

PMID:
11063719
6.

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, Lubieniecki F, Taratuto AL, Laquerrière A, Claeys KG, Marty I, Fardeau M, Guicheney P, Lunardi J, Romero NB.

Neuropathol Appl Neurobiol. 2011 Apr;37(3):271-84. doi: 10.1111/j.1365-2990.2010.01149.x.

PMID:
21062345
7.

Multi-minicore Disease.

Jungbluth H.

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

8.

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.

Kraeva N, Zvaritch E, Rossi AE, Goonasekera SA, Zaid H, Frodis W, Kraev A, Dirksen RT, Maclennan DH, Riazi S.

Neuromuscul Disord. 2013 Feb;23(2):120-32. doi: 10.1016/j.nmd.2012.08.007. Epub 2012 Nov 24.

9.

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J.

Hum Mol Genet. 2001 Oct 15;10(22):2581-92.

PMID:
11709545
10.

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.

Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J.

Acta Neuropathol. 2012 Oct;124(4):575-81. doi: 10.1007/s00401-012-1007-3. Epub 2012 Jul 3.

PMID:
22752422
11.

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.

Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F.

Neuromuscul Disord. 2004 Dec;14(12):785-90.

PMID:
15564033
12.

Central core disease is due to RYR1 mutations in more than 90% of patients.

Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I.

Brain. 2006 Jun;129(Pt 6):1470-80. Epub 2006 Apr 18.

PMID:
16621918
13.

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

Hernandez-Lain A, Husson I, Monnier N, Farnoux C, Brochier G, Lacène E, Beuvin M, Viou M, Manéré L, Claeys KG, Fardeau M, Lunardi J, Voit T, Romero NB.

Eur J Med Genet. 2011 Jan-Feb;54(1):29-33. doi: 10.1016/j.ejmg.2010.09.009. Epub 2010 Oct 1.

PMID:
20888934
14.

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;130(Pt 8):2024-36. Epub 2007 May 4.

PMID:
17483490
15.

RYR1-related central core myopathy in a Chinese adolescent boy.

Chan B, Chen SP, Wong WC, Mak CM, Wong S, Chan KY, Chan AY.

Hong Kong Med J. 2011 Feb;17(1):67-70.

16.

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

Jungbluth H, Müller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F.

Neurology. 2002 Jul 23;59(2):284-7.

PMID:
12136074
17.

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 27;65(12):1930-5.

PMID:
16380615
18.

[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
19.

Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.

Martin F, Kana V, Mori AC, Fischer D, Parkin N, Boltshauser E, Rushing EJ, Klein A.

Eur J Pediatr. 2014 Dec;173(12):1691-4. doi: 10.1007/s00431-014-2314-6. Epub 2014 Apr 8.

PMID:
24706162
20.

Central core disease due to recessive mutations in RYR1 gene: is it more common than described?

Kossugue PM, Paim JF, Navarro MM, Silva HC, Pavanello RC, Gurgel-Giannetti J, Zatz M, Vainzof M.

Muscle Nerve. 2007 May;35(5):670-4.

PMID:
17226826

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