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Items: 1 to 20 of 84

1.

Congenital myopathy with focal loss of cross-striations revisited.

Voermans NC, Jungbluth H, Aronica E, Monnier N, Lunardi J, Swash M, de Visser M.

Neuromuscul Disord. 2013 Feb;23(2):160-4. doi: 10.1016/j.nmd.2012.08.010. Epub 2012 Nov 3.

PMID:
23127960
2.

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
3.

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

Di Fabio R, Comanducci G, Piccolo F, Santorelli FM, De Berardinis T, Tessa A, Sabatini U, Pierelli F, Casali C.

Cerebellum. 2013 Feb;12(1):140-3. doi: 10.1007/s12311-012-0396-0. No abstract available.

PMID:
22699964
4.

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
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.

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.

Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J.

Hum Mol Genet. 2003 May 15;12(10):1171-8.

PMID:
12719381
7.

Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.

Rueffert H, Wehner M, Ogunlade V, Meinecke C, Schober R.

Clin Neuropathol. 2009 Nov-Dec;28(6):409-16.

PMID:
19919814
8.

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;19(1):65-70. doi: 10.1016/j.jocn.2011.05.010. Epub 2011 Oct 24.

PMID:
22030266
9.

RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.

Illingworth MA, Main M, Pitt M, Feng L, Sewry CA, Gunny R, Vorstman E, Beeson D, Manzur A, Muntoni F, Robb SA.

Neuromuscul Disord. 2014 Aug;24(8):707-12. doi: 10.1016/j.nmd.2014.05.003. Epub 2014 May 23.

PMID:
24951453
10.

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. doi: 10.1016/j.nmd.2012.06.007. Epub 2012 Jul 10.

PMID:
22784669
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.

Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.

Liu G, Chen X, Sun X, Liu H, Zhao K, Chang Q, Pan X, Wang X, Yuan S, Liu Q, Zhao C.

Mol Vis. 2014 Jan 6;20:15-23. eCollection 2014.

13.

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
14.

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

Citirak G, Witting N, Duno M, Werlauff U, Petri H, Vissing J.

Neuromuscul Disord. 2014 Apr;24(4):325-30. doi: 10.1016/j.nmd.2013.12.008. Epub 2014 Jan 3.

PMID:
24507666
15.

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
16.

Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Zvaritch E, Kraeva N, Bombardier E, McCloy RA, Depreux F, Holmyard D, Kraev A, Seidman CE, Seidman JG, Tupling AR, MacLennan DH.

Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21813-8. doi: 10.1073/pnas.0912126106. Epub 2009 Dec 3.

17.

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
18.

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
19.

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S.

Hum Mol Genet. 2015 Aug 15;24(16):4636-47. doi: 10.1093/hmg/ddv195. Epub 2015 May 27.

PMID:
26019235
20.

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.

Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, Laing NG, Vedanarayanan V, Subramony SH.

Neurology. 2000 Dec 12;55(11):1689-96.

PMID:
11113224

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