-
1
-
-
0033624484
-
2+ signalling and muscle disease
-
2+ signalling and muscle disease. Eur J Biochem 2000; 267:5291-7
-
(2000)
Eur J Biochem
, vol.267
, pp. 5291-5297
-
-
MacLennan, D.H.1
-
2
-
-
0033830548
-
2+ homeostasis and disease
-
2+ homeostasis and disease. Cell Calcium 2000; 28:1-21
-
(2000)
Cell Calcium
, vol.28
, pp. 1-21
-
-
Missiaen, L.1
Robberecht, W.2
Bosch, L.V.3
Callewaert, G.4
Parys, J.B.5
Wuytack, F.6
Raeymaekers, L.7
Nilius, B.8
Eggermont, J.9
Smedt, H.D.10
-
3
-
-
0033939421
-
Calcium ion in skeletal muscle: Its crucial role for muscle function, plasticity, and disease
-
Berchtold MW, Brinkmeier H, Muntener M: Calcium ion in skeletal muscle: Its crucial role for muscle function, plasticity, and disease. Physiol Rev 2000; 80:1215-65
-
(2000)
Physiol Rev
, vol.80
, pp. 1215-1265
-
-
Berchtold, M.W.1
Brinkmeier, H.2
Muntener, M.3
-
5
-
-
0032192372
-
Control of calcium in skeletal muscle excitation-contraction coupling: Implications for malignant hyperthermia
-
Wingertzahn MA, Ochs RS: Control of calcium in skeletal muscle excitation-contraction coupling: Implications for malignant hyperthermia. Mol Genet Metab 1998; 65:113-20
-
(1998)
Mol Genet Metab
, vol.65
, pp. 113-120
-
-
Wingertzahn, M.A.1
Ochs, R.S.2
-
6
-
-
0031784206
-
The anesthetic myopathies and malignant hyperthermias
-
Hogan K: The anesthetic myopathies and malignant hyperthermias. Curr Opin Neurol 1998; 11:469-76
-
(1998)
Curr Opin Neurol
, vol.11
, pp. 469-476
-
-
Hogan, K.1
-
7
-
-
0035895322
-
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
-
Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino VV, Danieli GA: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001; 103:196-200
-
(2001)
Circulation
, vol.103
, pp. 196-200
-
-
Priori, S.G.1
Napolitano, C.2
Tiso, N.3
Memmi, M.4
Vignati, G.5
Bloise, R.6
Sorrentino, V.V.7
Danieli, G.A.8
-
8
-
-
0035253502
-
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
-
Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A: Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001; 10:189-94
-
(2001)
Hum Mol Genet
, vol.10
, pp. 189-194
-
-
Tiso, N.1
Stephan, D.A.2
Nava, A.3
Bagattin, A.4
Devaney, J.M.5
Stanchi, F.6
Larderet, G.7
Brahmbhatt, B.8
Brown, K.9
Bauce, B.10
Muriago, M.11
Basso, C.12
Thiene, G.13
Danieli, G.A.14
Rampazzo, A.15
-
9
-
-
0035969990
-
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
-
Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, Donarum EA, Marino M, Tiso N, Viitasalo M, Toivonen L, Stephan DA, Kontula K: Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001; 103:485-90
-
(2001)
Circulation
, vol.103
, pp. 485-490
-
-
Laitinen, P.J.1
Brown, K.M.2
Piippo, K.3
Swan, H.4
Devaney, J.M.5
Brahmbhatt, B.6
Donarum, E.A.7
Marino, M.8
Tiso, N.9
Viitasalo, M.10
Toivonen, L.11
Stephan, D.A.12
Kontula, K.13
-
10
-
-
0025071723
-
2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum
-
2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J Biol Chem 1990; 265:2244-56
-
(1990)
J Biol Chem
, vol.265
, pp. 2244-2256
-
-
Zorzato, F.1
Fujii, J.2
Otsu, K.3
Phillips, M.S.4
Green, N.M.5
Lai, F.A.6
Meissner, G.7
MacLennan, D.H.8
-
11
-
-
0027516045
-
Fluorescence in situ hybridization mapping of human chromosome 19: Cytogenetic band location of 540 cosmids and 70 genes or DNA markers
-
Trask B, Fertitta A, Christensen M, Youngblom J, Bergmann A, Copeland A, de Jong PJ, Mohrenweiser H, Olsen A, Carrano A: Fluorescence in situ hybridization mapping of human chromosome 19: Cytogenetic band location of 540 cosmids and 70 genes or DNA markers. Genomics 1993; 15:133-45
-
(1993)
Genomics
, vol.15
, pp. 133-145
-
-
Trask, B.1
Fertitta, A.2
Christensen, M.3
Youngblom, J.4
Bergmann, A.5
Copeland, A.6
De Jong, P.J.7
Mohrenweiser, H.8
Olsen, A.9
Carrano, A.10
-
12
-
-
0034087446
-
Ryanodine receptor mutations in malignant hyperthermia and central core disease
-
McCarthy TV, Quane KA, Lynch PJ: Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000; 15:410-7
-
(2000)
Hum Mutat
, vol.15
, pp. 410-417
-
-
McCarthy, T.V.1
Quane, K.A.2
Lynch, P.J.3
-
13
-
-
0032869137
-
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: Novel mutations and concordance with the in vitro contracture test
-
Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F: Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: Novel mutations and concordance with the in vitro contracture test. Hum Mol Genet 1999; 8:2055-62
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2055-2062
-
-
Brandt, A.1
Schleithoff, L.2
Jurkat-Rott, K.3
Klingler, W.4
Baur, C.5
Lehmann-Horn, F.6
-
14
-
-
0036285579
-
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: Identification of three novel mutations
-
Rueffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG: Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: Identification of three novel mutations. Acta Anaesthesiol Scand 2002; 46:692-8
-
(2002)
Acta Anaesthesiol Scand
, vol.46
, pp. 692-698
-
-
Rueffert, H.1
Olthoff, D.2
Deutrich, C.3
Meinecke, C.D.4
Froster, U.G.5
-
15
-
-
0035660572
-
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: Association with central core disease and alteration of calcium homeostasis
-
Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Muller CR, Treves S: Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: Association with central core disease and alteration of calcium homeostasis. Hum Mol Genet 2001; 10:2879-87
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2879-2887
-
-
Tilgen, N.1
Zorzato, F.2
Halliger-Keller, B.3
Muntoni, F.4
Sewry, C.5
Palmucci, L.M.6
Schneider, C.7
Hauser, E.8
Lehmann-Horn, F.9
Muller, C.R.10
Treves, S.11
-
16
-
-
0034069562
-
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
-
Yamada T, Tachibana A, Shimizu T, Mugishima H, Okubo M, Sasaki MS: Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. J Hum Genet 2000; 45:159-66
-
(2000)
J Hum Genet
, vol.45
, pp. 159-166
-
-
Yamada, T.1
Tachibana, A.2
Shimizu, T.3
Mugishima, H.4
Okubo, M.5
Sasaki, M.S.6
-
17
-
-
0035776497
-
Methods for genotyping single nucleotide polymorphisms
-
Kwok PY: Methods for genotyping single nucleotide polymorphisms. Annu Rev Genomics Hum Genet 2001; 2:235-58
-
(2001)
Annu Rev Genomics Hum Genet
, vol.2
, pp. 235-258
-
-
Kwok, P.Y.1
-
18
-
-
0036193376
-
SNP genotyping with fluorescence polarization detection
-
Kwok PY: SNP genotyping with fluorescence polarization detection. Hum Mutat 2002; 19:315-23
-
(2002)
Hum Mutat
, vol.19
, pp. 315-323
-
-
Kwok, P.Y.1
-
19
-
-
0033605332
-
Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes
-
Sei Y, Gallagher KL, Basile AS: Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes. J Biol Chem 1999; 274:5995-6002
-
(1999)
J Biol Chem
, vol.274
, pp. 5995-6002
-
-
Sei, Y.1
Gallagher, K.L.2
Basile, A.S.3
-
20
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162:156-9
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
21
-
-
0031905770
-
Thermostabilization and thermoactivation of thermolabile enzymes by trehalose and its application for the synthesis of full length cDNA
-
Carninci P, Nishiyama Y, Westover A, Itoh M, Nagaoka S, Sasaki N, Okazaki Y, Muramatsu M, Hayashizaki Y: Thermostabilization and thermoactivation of thermolabile enzymes by trehalose and its application for the synthesis of full length cDNA. Proc Natl Acad Sci U S A 1998; 95:520-4
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 520-524
-
-
Carninci, P.1
Nishiyama, Y.2
Westover, A.3
Itoh, M.4
Nagaoka, S.5
Sasaki, N.6
Okazaki, Y.7
Muramatsu, M.8
Hayashizaki, Y.9
-
22
-
-
0030996054
-
XcmI-containing vector for direct cloning of PCR products
-
Borovkov AY, Rivkin, MI: XcmI-containing vector for direct cloning of PCR products. Biotechniques 1997; 22:812-4
-
(1997)
Biotechniques
, vol.22
, pp. 812-814
-
-
Borovkov, A.Y.1
Rivkin, M.I.2
-
23
-
-
0027248268
-
Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: Thermal RACE
-
Frohman, MA: Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: Thermal RACE. Methods Enzymol 1993; 218:340-56
-
(1993)
Methods Enzymol
, vol.218
, pp. 340-356
-
-
Frohman, M.A.1
-
25
-
-
0025886853
-
K-tuple frequency in the human genome and polymerase chain reaction
-
Griffais R, Andre PM, Thibon M: K-tuple frequency in the human genome and polymerase chain reaction. Nucleic Acids Res 1991; 19:3887-91
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 3887-3891
-
-
Griffais, R.1
Andre, P.M.2
Thibon, M.3
-
26
-
-
0032539693
-
A unified view of polymer, dumbbell, and oligonucleotide DNA nearest-neighbor thermodynamics
-
SantaLucia JJ: A unified view of polymer, dumbbell, and oligonucleotide DNA nearest-neighbor thermodynamics. Proc Natl Acad Sci U S A 1998; 95: 1460-5
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 1460-1465
-
-
SantaLucia, J.J.1
-
27
-
-
0027291158
-
A mutation in the human ryanodine receptor gene associated with central core disease
-
Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, Britt BA, Browell AK, MacLennan DH: A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 1993; 5:46-50
-
(1993)
Nat Genet
, vol.5
, pp. 46-50
-
-
Zhang, Y.1
Chen, H.S.2
Khanna, V.K.3
De Leon, S.4
Phillips, M.S.5
Schappert, K.6
Britt, B.A.7
Browell, A.K.8
MacLennan, D.H.9
-
28
-
-
0035235051
-
Exon skipping in the ATM gene in normal individuals: The effect of blood sample storage on RT-PCR analysis
-
Birrell GW, Ramsay JR, Tung JJ, Lavin MF: Exon skipping in the ATM gene in normal individuals: The effect of blood sample storage on RT-PCR analysis. Hum Mutat 2001; 17:75-6
-
(2001)
Hum Mutat
, vol.17
, pp. 75-76
-
-
Birrell, G.W.1
Ramsay, J.R.2
Tung, J.J.3
Lavin, M.F.4
-
29
-
-
0035173812
-
Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes
-
Jakubowska A, Gorski B, Kurzawski G, Debniak T, Hadaczek P, Cybulski C, Kladny J, Oszurek O, Scott RJ, Lubinski J: Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes. Hum Mutat 2001; 17:52-60
-
(2001)
Hum Mutat
, vol.17
, pp. 52-60
-
-
Jakubowska, A.1
Gorski, B.2
Kurzawski, G.3
Debniak, T.4
Hadaczek, P.5
Cybulski, C.6
Kladny, J.7
Oszurek, O.8
Scott, R.J.9
Lubinski, J.10
-
30
-
-
0033559113
-
Amplification of cDNA ends based on template-switching effect and step-out PCR
-
Matz M, Shagin D, Bogdanova E, Britanova O, Lukyanov S, Diatchenko L, Chenchik A: Amplification of cDNA ends based on template-switching effect and step-out PCR. Nucleic Acids Res 1999; 27:1558-60
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 1558-1560
-
-
Matz, M.1
Shagin, D.2
Bogdanova, E.3
Britanova, O.4
Lukyanov, S.5
Diatchenko, L.6
Chenchik, A.7
-
31
-
-
0036794325
-
Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells
-
Girard T, Treves S, Censier K, Mueller CR, Zorzato F, Urwyler A: Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells. Br J Anaesth 2002; 89:571-9
-
(2002)
Br J Anaesth
, vol.89
, pp. 571-579
-
-
Girard, T.1
Treves, S.2
Censier, K.3
Mueller, C.R.4
Zorzato, F.5
Urwyler, A.6
-
32
-
-
0036841629
-
Detection of proton release from cultured human myotubes to identify malignant hyperthermia susceptibility
-
Klingler W, Baur C, Georgieff M, Lehmann-Horn F, Melzer W: Detection of proton release from cultured human myotubes to identify malignant hyperthermia susceptibility. ANESTHESIOLOGY 2002; 97:1059-66
-
(2002)
Anesthesiology
, vol.97
, pp. 1059-1066
-
-
Klingler, W.1
Baur, C.2
Georgieff, M.3
Lehmann-Horn, F.4
Melzer, W.5
-
33
-
-
18644367368
-
Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes
-
Sei Y, Brandom BW, Bina S, Hosoi E, Gallagher KL, Wyre HW, Pudimat PA, Holman SJ, Venzon DJ, Daly JW, Muldoon S: Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes. ANESTHESIOLOGY 2002; 97:1052-8
-
(2002)
Anesthesiology
, vol.97
, pp. 1052-1058
-
-
Sei, Y.1
Brandom, B.W.2
Bina, S.3
Hosoi, E.4
Gallagher, K.L.5
Wyre, H.W.6
Pudimat, P.A.7
Holman, S.J.8
Venzon, D.J.9
Daly, J.W.10
Muldoon, S.11
-
34
-
-
0030006962
-
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene
-
Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, MacLennan DH: The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 1996; 34:24-41
-
(1996)
Genomics
, vol.34
, pp. 24-41
-
-
Phillips, M.S.1
Fujii, J.2
Khanna, V.K.3
DeLeon, S.4
Yokobata, K.5
De Jong, P.J.6
MacLennan, D.H.7
-
35
-
-
0024318429
-
Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor
-
Takeshima H, Nishimura S, Matsumoto T, Ishida H, Kangawa K, Minamino N, Matsuo H, Ueda M, Hanaoka M, Hirose T, Numa S: Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Nature 1989; 339:439-45
-
(1989)
Nature
, vol.339
, pp. 439-445
-
-
Takeshima, H.1
Nishimura, S.2
Matsumoto, T.3
Ishida, H.4
Kangawa, K.5
Minamino, N.6
Matsuo, H.7
Ueda, M.8
Hanaoka, M.9
Hirose, T.10
Numa, S.11
-
36
-
-
0030003498
-
Regulation of tissue-specific expression of the skeletal muscle ryanodine receptor gene
-
Schmoelzl S, Leeb T, Brinkmeier H, Brem G, Brenig B: Regulation of tissue-specific expression of the skeletal muscle ryanodine receptor gene. J Biol Chem 1996; 271:4763-9
-
(1996)
J Biol Chem
, vol.271
, pp. 4763-4769
-
-
Schmoelzl, S.1
Leeb, T.2
Brinkmeier, H.3
Brem, G.4
Brenig, B.5
-
38
-
-
0036534129
-
Alternative splicing: Multiple control mechanisms and involvement in human disease
-
Caceres JF, Kornblihtt AR: Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet 2002; 18:186-93
-
(2002)
Trends Genet
, vol.18
, pp. 186-193
-
-
Caceres, J.F.1
Kornblihtt, A.R.2
-
39
-
-
0035421277
-
Regulation of alternative pre-mRNA splicing by the ERK MAP-kinase pathway
-
Weg-Remers S, Ponta H, Herrlich P, Konig H: Regulation of alternative pre-mRNA splicing by the ERK MAP-kinase pathway. Embo J 2001; 20:4194-203
-
(2001)
Embo J
, vol.20
, pp. 4194-4203
-
-
Weg-Remers, S.1
Ponta, H.2
Herrlich, P.3
Konig, H.4
-
40
-
-
0041461851
-
Detection of a novel ryanodine receptor subtype 1 mutation in a malignant hyperthermia family by sequencing of a leukocyte transcript
-
Loke JCP, Kraev N, Sharma P, Du G, Patel L, Kraev A, MacLennan DH: Detection of a novel ryanodine receptor subtype 1 mutation in a malignant hyperthermia family by sequencing of a leukocyte transcript. ANESTHESIOLOGY 2003; 99:297-302
-
(2003)
Anesthesiology
, vol.99
, pp. 297-302
-
-
Loke, J.C.P.1
Kraev, N.2
Sharma, P.3
Du, G.4
Patel, L.5
Kraev, A.6
MacLennan, D.H.7
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