Muntoni F - Search Results

1

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Lopez RJ, Byrne S, Vukcevic M, Sekulic-Jablanovic M, Xu L, Brink M, Alamelu J, Voermans N, Snoeck M, Clement E, Muntoni F, Zhou H, Radunovic A, Mohammed S, Wraige E, Zorzato F, Treves S, Jungbluth H. Lopez RJ, et al. Among authors: muntoni f. Sci Signal. 2016 Jul 5;9(435):ra68. doi: 10.1126/scisignal.aad9813. Sci Signal. 2016. PMID: 27382027

2

Muscle MRI findings in a three-generation family affected by Bethlem myopathy.

Mercuri E, Cini C, Counsell S, Allsop J, Zolkipli Z, Jungbluth H, Sewry C, Brown SC, Pepe G, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Eur J Paediatr Neurol. 2002;6(6):309-14. doi: 10.1016/s1090-3798(02)90618-5. Eur J Paediatr Neurol. 2002. PMID: 12401455

3

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.

Zorzato F, Yamaguchi N, Xu L, Meissner G, Müller CR, Pouliquin P, Muntoni F, Sewry C, Girard T, Treves S. Zorzato F, et al. Among authors: muntoni f. Hum Mol Genet. 2003 Feb 15;12(4):379-88. doi: 10.1093/hmg/ddg032. Hum Mol Genet. 2003. PMID: 12566385 Free article.

4

What's new in neuromuscular disorders? The congenital myopathies.

Jungbluth H, Sewry CA, Muntoni F. Jungbluth H, et al. Among authors: muntoni f. Eur J Paediatr Neurol. 2003;7(1):23-30. doi: 10.1016/s1090-3798(02)00136-8. Eur J Paediatr Neurol. 2003. PMID: 12615171 Review.

5

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease.

Ducreux S, Zorzato F, Müller C, Sewry C, Muntoni F, Quinlivan R, Restagno G, Girard T, Treves S. Ducreux S, et al. Among authors: muntoni f. J Biol Chem. 2004 Oct 15;279(42):43838-46. doi: 10.1074/jbc.M403612200. Epub 2004 Aug 8. J Biol Chem. 2004. PMID: 15299003 Free article.

6

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.

Jungbluth H, Beggs A, Bönnemann C, Bushby K, Ceuterick-de Groote C, Estournet-Mathiaud B, Goemans N, Guicheney P, Lescure A, Lunardi J, Muntoni F, Quinlivan R, Sewry C, Straub V, Treves S, Ferreiro A. Jungbluth H, et al. Among authors: muntoni f. Neuromuscul Disord. 2004 Nov;14(11):754-66. doi: 10.1016/j.nmd.2004.07.007. Neuromuscul Disord. 2004. PMID: 15482962 No abstract available.

7

Magnetic resonance imaging of muscle in nemaline myopathy.

Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F. Jungbluth H, et al. Among authors: muntoni f. Neuromuscul Disord. 2004 Dec;14(12):779-84. doi: 10.1016/j.nmd.2004.08.005. Neuromuscul Disord. 2004. PMID: 15564032

8

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. Jungbluth H, et al. Among authors: muntoni f. Neuromuscul Disord. 2004 Dec;14(12):785-90. doi: 10.1016/j.nmd.2004.08.006. Neuromuscul Disord. 2004. PMID: 15564033

9

Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders.

Mercuri E, Jungbluth H, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Curr Opin Neurol. 2005 Oct;18(5):526-37. doi: 10.1097/01.wco.0000183947.01362.fe. Curr Opin Neurol. 2005. PMID: 16155435 Review.

10

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.

Ducreux S, Zorzato F, Ferreiro A, Jungbluth H, Muntoni F, Monnier N, Müller CR, Treves S. Ducreux S, et al. Among authors: muntoni f. Biochem J. 2006 Apr 15;395(2):259-66. doi: 10.1042/BJ20051282. Biochem J. 2006. PMID: 16372898 Free PMC article.

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