PubMed (OMIM) for id: 199773

Year	Number of Results
1956	1
1961	1
1965	1
1966	1
1970	1
1975	1
1978	1
1979	1
1980	1
1982	2
1990	5
1991	5
1992	4
1993	7
1994	6
1995	5
1996	3
1997	3
1998	6
1999	2
2000	4
2001	7
2002	4
2003	2
2004	4
2005	1
2024	0

1

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Roméro N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J. Monnier N, et al. Hum Mutat. 2005 Nov;26(5):413-25. doi: 10.1002/humu.20231. Hum Mutat. 2005. PMID: 16163667

2

Ryanodine receptor channelopathies.

Benkusky NA, Farrell EF, Valdivia HH. Benkusky NA, et al. Biochem Biophys Res Commun. 2004 Oct 1;322(4):1280-5. doi: 10.1016/j.bbrc.2004.08.033. Biochem Biophys Res Commun. 2004. PMID: 15336975 Review.

3

Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.

Lyfenko AD, Goonasekera SA, Dirksen RT. Lyfenko AD, et al. Biochem Biophys Res Commun. 2004 Oct 1;322(4):1256-66. doi: 10.1016/j.bbrc.2004.08.031. Biochem Biophys Res Commun. 2004. PMID: 15336973 Review.

4

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. 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.

5

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.

Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, Lunardi J, Cozzone PJ, Pellissier JF. Guis S, et al. Arch Neurol. 2004 Jan;61(1):106-13. doi: 10.1001/archneur.61.1.106. Arch Neurol. 2004. PMID: 14732627

6

CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY.

AFIFI AK, SMITH JW, ZELLWEGER H. AFIFI AK, et al. Neurology. 1965 Apr;15:371-81. doi: 10.1212/wnl.15.4.371. Neurology. 1965. PMID: 14280602 No abstract available.

7

Central core disease-an investigation of a rare muscle cell abnormality.

ENGEL WK, FOSTER JB, HUGHES BP, HUXLEY HE, MAHLER R. ENGEL WK, et al. Brain. 1961 Jun;84:167-85. doi: 10.1093/brain/84.2.167. Brain. 1961. PMID: 13696813 No abstract available.

8

A new congenital non-progressive myopathy.

MAGEE KR, SHY GM. MAGEE KR, et al. Brain. 1956 Dec;79(4):610-21. doi: 10.1093/brain/79.4.610. Brain. 1956. PMID: 13396066 No abstract available.

9

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. Monnier N, et al. Hum Mol Genet. 2003 May 15;12(10):1171-8. doi: 10.1093/hmg/ddg121. Hum Mol Genet. 2003. PMID: 12719381

10

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. Hum Mol Genet. 2003 Feb 15;12(4):379-88. doi: 10.1093/hmg/ddg032. Hum Mol Genet. 2003. PMID: 12566385 Free article.

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