123 related articles for article (PubMed ID: 7554356)
1. A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility.
Alestrøm A; Fagerlund TH; Berg K
Clin Genet; 1995 May; 47(5):274-5. PubMed ID: 7554356
[TBL] [Abstract][Full Text] [Related]
2. The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.
Adeokun AM; West SP; Ellis FR; Halsall PJ; Hopkins PM; Foroughmand AM; Iles DE; Robinson RL; Stewart AD; Curran JL
Am J Hum Genet; 1997 Apr; 60(4):833-41. PubMed ID: 9106529
[TBL] [Abstract][Full Text] [Related]
3. Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
Quane KA; Keating KE; Healy JM; Manning BM; Krivosic-Horber R; Krivosic I; Monnier N; Lunardi J; McCarthy TV
Genomics; 1994 Sep; 23(1):236-9. PubMed ID: 7829078
[TBL] [Abstract][Full Text] [Related]
4. RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.
Fagerlund T; Ording H; Bendixen D; Islander G; Ranklev-Twetman E; Berg K
Clin Genet; 1996 Apr; 49(4):186-8. PubMed ID: 8828983
[TBL] [Abstract][Full Text] [Related]
5. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.
Quane KA; Keating KE; Manning BM; Healy JM; Monsieurs K; Heffron JJ; Lehane M; Heytens L; Krivosic-Horber R; Adnet P
Hum Mol Genet; 1994 Mar; 3(3):471-6. PubMed ID: 8012359
[TBL] [Abstract][Full Text] [Related]
6. A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.
Fagerlund TH; Islander G; Twetman ER; Berg K
Clin Genet; 1995 Jul; 48(1):12-6. PubMed ID: 7586638
[TBL] [Abstract][Full Text] [Related]
7. Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.
Fagerlund T; Ording H; Bendixen D; Berg K
Clin Genet; 1994 Dec; 46(6):401-4. PubMed ID: 7889656
[TBL] [Abstract][Full Text] [Related]
8. Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
Keating KE; Giblin L; Lynch PJ; Quane KA; Lehane M; Heffron JJ; McCarthy TV
J Med Genet; 1997 Apr; 34(4):291-6. PubMed ID: 9138151
[TBL] [Abstract][Full Text] [Related]
9. No association between the neuroleptic malignant syndrome and mutations in the RYR1 gene associated malignant hyperthermia.
Miyatake R; Iwahashi K; Matsushita M; Nakamura K; Suwaki H
J Neurol Sci; 1996 Nov; 143(1-2):161-5. PubMed ID: 8981316
[TBL] [Abstract][Full Text] [Related]
10. Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.
Moroni I; Gonano EF; Comi GP; Tegazzin V; Prelle A; Bordoni A; Bresolin N; Scarlato G
J Neurol; 1995 Feb; 242(3):127-33. PubMed ID: 7751854
[TBL] [Abstract][Full Text] [Related]
11. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.
Gillard EF; Otsu K; Fujii J; Duff C; de Leon S; Khanna VK; Britt BA; Worton RG; MacLennan DH
Genomics; 1992 Aug; 13(4):1247-54. PubMed ID: 1354642
[TBL] [Abstract][Full Text] [Related]
12. Malignant hyperthermia susceptibility, an autosomal dominant disorder?
Fagerlund TH; Islander G; Ranklev Twetman E; Berg K
Clin Genet; 1997 Jun; 51(6):365-9. PubMed ID: 9237497
[TBL] [Abstract][Full Text] [Related]
13. Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia.
O'Brien RO; Taske NL; Hansbro PM; Matthaei KI; Hogan SP; Denborough MA; Foster PS
J Med Genet; 1995 Nov; 32(11):913-4. PubMed ID: 8592342
[TBL] [Abstract][Full Text] [Related]
14. Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
Keating KE; Quane KA; Manning BM; Lehane M; Hartung E; Censier K; Urwyler A; Klausnitzer M; Muller CR; Heffron JJ
Hum Mol Genet; 1994 Oct; 3(10):1855-8. PubMed ID: 7849712
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
Quane KA; Healy JM; Keating KE; Manning BM; Couch FJ; Palmucci LM; Doriguzzi C; Fagerlund TH; Berg K; Ording H
Nat Genet; 1993 Sep; 5(1):51-5. PubMed ID: 8220423
[TBL] [Abstract][Full Text] [Related]
16. The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
Phillips MS; Khanna VK; De Leon S; Frodis W; Britt BA; MacLennan DH
Hum Mol Genet; 1994 Dec; 3(12):2181-6. PubMed ID: 7881417
[TBL] [Abstract][Full Text] [Related]
17. The genetic basis of malignant hyperthermia.
Moochhala SM; Tan WT; Lee TL
Ann Acad Med Singap; 1994 Jul; 23(4):475-8. PubMed ID: 7979121
[TBL] [Abstract][Full Text] [Related]
18. No C1840 to T mutation in RYR1 in malignant hyperthermia.
Hall-Curran JL; Stewart AD; Ball SP; Halsall JP; Hopkins PM; Ellis FR
Hum Mutat; 1993; 2(4):330. PubMed ID: 8401544
[No Abstract] [Full Text] [Related]
19. The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia.
MacLennan DH; Otsu K; Fujii J; Zorzato F; Phillips MS; O'Brien PJ; Archibald AL; Britt BA; Gillard EF; Worton RG
Symp Soc Exp Biol; 1992; 46():189-201. PubMed ID: 1341035
[TBL] [Abstract][Full Text] [Related]
20. Co-segregation of the malignant hyperthermia and the Arg615-Cys615 mutation in the skeletal muscle calcium release channel protein in five European Landrace and Pietrain pig breeds.
Vögeli P; Bolt R; Fries R; Stranzinger G
Anim Genet; 1994 Jun; 25 Suppl 1():59-66. PubMed ID: 7943985
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
