261 related articles for article (PubMed ID: 14732615)
1. 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. PubMed ID: 14732615
[No Abstract] [Full Text] [Related]
2. 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. PubMed ID: 22030266
[TBL] [Abstract][Full Text] [Related]
3. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
McCarthy TV; Quane KA; Lynch PJ
Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16917943
[TBL] [Abstract][Full Text] [Related]
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
Arch Neurol; 2004 Jan; 61(1):106-13. PubMed ID: 14732627
[TBL] [Abstract][Full Text] [Related]
6. Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
Duarte ST; Oliveira J; Santos R; Pereira P; Barroso C; Conceição I; Evangelista T
Muscle Nerve; 2011 Jul; 44(1):102-8. PubMed ID: 21674524
[TBL] [Abstract][Full Text] [Related]
7. Malignant hyperthermia and central core disease causative mutations in Swedish patients.
Broman M; Islander G; Müller CR; Ranklev-Twetman E
Acta Anaesthesiol Scand; 2007 Jan; 51(1):50-3. PubMed ID: 17081152
[TBL] [Abstract][Full Text] [Related]
8. Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.
Lyfenko AD; Goonasekera SA; Dirksen RT
Biochem Biophys Res Commun; 2004 Oct; 322(4):1256-66. PubMed ID: 15336973
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 17226826
[TBL] [Abstract][Full Text] [Related]
10. Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.
Vukcevic M; Broman M; Islander G; Bodelsson M; Ranklev-Twetman E; Müller CR; Treves S
Anesth Analg; 2010 Jul; 111(1):185-90. PubMed ID: 20142353
[TBL] [Abstract][Full Text] [Related]
11. Core myopathies and malignant hyperthermia susceptibility: a review.
Brislin RP; Theroux MC
Paediatr Anaesth; 2013 Sep; 23(9):834-41. PubMed ID: 23617272
[TBL] [Abstract][Full Text] [Related]
12. Core myopathies and risk of malignant hyperthermia.
Klingler W; Rueffert H; Lehmann-Horn F; Girard T; Hopkins PM
Anesth Analg; 2009 Oct; 109(4):1167-73. PubMed ID: 19762745
[TBL] [Abstract][Full Text] [Related]
13. 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; 9(18):2599-608. PubMed ID: 11063719
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 16621918
[TBL] [Abstract][Full Text] [Related]
15. Unraveling RYR1 mutations and muscle biopsies.
Morrison L
Neurology; 2008 Jan; 70(2):99-100. PubMed ID: 18180439
[No Abstract] [Full Text] [Related]
16. Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels.
Priori SG; Napolitano C
J Clin Invest; 2005 Aug; 115(8):2033-8. PubMed ID: 16075044
[TBL] [Abstract][Full Text] [Related]
17. Central core disease.
Jungbluth H
Orphanet J Rare Dis; 2007 May; 2():25. PubMed ID: 17504518
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 25958340
[TBL] [Abstract][Full Text] [Related]
19. A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
Rueffert H; Olthoff D; Deutrich C; Schober R; Froster UG
Am J Med Genet A; 2004 Jan; 124A(3):248-54. PubMed ID: 14708096
[TBL] [Abstract][Full Text] [Related]
20. Central core disease and susceptibility to malignant hyperthermia in a single family.
Colleoni L; Melli G; Morandi L; Cudia P; Romaggi S; Mantegazza R; Bernasconi P
J Neurol; 2009 Jul; 256(7):1161-3. PubMed ID: 19252784
[No Abstract] [Full Text] [Related]
[Next] [New Search]