-
1
-
-
19044375929
-
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multi-minicore disease: reassessing the nosology of early-onset myopathies
-
Ferreiro A., Quijano-Roy S., Pichereau C., et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multi-minicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 71 (2002) 739-749
-
(2002)
Am J Hum Genet
, vol.71
, pp. 739-749
-
-
Ferreiro, A.1
Quijano-Roy, S.2
Pichereau, C.3
-
2
-
-
0036260805
-
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
-
Ferreiro A., Monnier N., Romero N.B., et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol 51 (2002) 750-759
-
(2002)
Ann Neurol
, vol.51
, pp. 750-759
-
-
Ferreiro, A.1
Monnier, N.2
Romero, N.B.3
-
3
-
-
0037162335
-
Autosomal-recessive inheritance of RYR1 mutations in a congenital myopathy with cores
-
Jungbluth H., Müller C.R., Halliger-Keller B., et al. Autosomal-recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 59 (2002) 284-287
-
(2002)
Neurology
, vol.59
, pp. 284-287
-
-
Jungbluth, H.1
Müller, C.R.2
Halliger-Keller, B.3
-
4
-
-
0038101427
-
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., and Lunardi J. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. Hum Mol Genet 12 (2003) 1171-1178
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1171-1178
-
-
Monnier, N.1
Ferreiro, A.2
Marty, I.3
Labarre-Vila, A.4
Mezin, P.5
Lunardi, J.6
-
5
-
-
33645743730
-
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
-
Jungbluth H., Zhou H., Hartley L., et al. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 65 (2005) 1930-1935
-
(2005)
Neurology
, vol.65
, pp. 1930-1935
-
-
Jungbluth, H.1
Zhou, H.2
Hartley, L.3
-
6
-
-
33748752700
-
Characterization of RYR1 mutations in core myopathies
-
Zhou H., Xu L., Yamaguchi N., et al. Characterization of RYR1 mutations in core myopathies. Human Mol Gen 15 (2006) 2791-2803
-
(2006)
Human Mol Gen
, vol.15
, pp. 2791-2803
-
-
Zhou, H.1
Xu, L.2
Yamaguchi, N.3
-
7
-
-
34047270223
-
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
-
Jungbluth H., Zhou H., Sewry C.A., et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 17 (2007) 338-345
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 338-345
-
-
Jungbluth, H.1
Zhou, H.2
Sewry, C.A.3
-
8
-
-
5144223640
-
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
-
Jungbluth H., Davis M.R., Muller C., et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 14 (2004) 785-790
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 785-790
-
-
Jungbluth, H.1
Davis, M.R.2
Muller, C.3
-
9
-
-
34547757463
-
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
-
Zhou H., Jungbluth H., Sewry C.A., et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain 130 (2007) 2024-2036
-
(2007)
Brain
, vol.130
, pp. 2024-2036
-
-
Zhou, H.1
Jungbluth, H.2
Sewry, C.A.3
-
10
-
-
33745085922
-
Central core disease is due to RYR1 mutations in more than 90% of patients
-
Wu S., Ibarra M.C., Malicdan M.C., et al. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain 129 Pt. 6 (2006) 1470-1480
-
(2006)
Brain
, vol.129
, Issue.PART 6
, pp. 1470-1480
-
-
Wu, S.1
Ibarra, M.C.2
Malicdan, M.C.3
-
11
-
-
4243279444
-
-
F. Protasi, Structural interaction between RyRs and DHPRs in calcium release units of cardiac and skeletal muscle cells. In: the structure and function of calcium release channels. Front Biosci 2002; 7: d650-d658.
-
F. Protasi, Structural interaction between RyRs and DHPRs in calcium release units of cardiac and skeletal muscle cells. In: the structure and function of calcium release channels. Front Biosci 2002; 7: d650-d658.
-
-
-
-
12
-
-
0030789142
-
The ryanodine receptor of striated muscle: a complex channel capable of multiple interactions
-
Franzini-Armstrong C., and Protasi F. The ryanodine receptor of striated muscle: a complex channel capable of multiple interactions. Physiol Rev 77 3 (1997) 699-729
-
(1997)
Physiol Rev
, vol.77
, Issue.3
, pp. 699-729
-
-
Franzini-Armstrong, C.1
Protasi, F.2
-
14
-
-
0032559585
-
Role of ryanodine receptors in the assembly of calcium release units in skeletal muscle
-
Protasi F., Franzini-Armstrong C., and Allen P.D. Role of ryanodine receptors in the assembly of calcium release units in skeletal muscle. J Cell Biol 140 (1998) 831-842
-
(1998)
J Cell Biol
, vol.140
, pp. 831-842
-
-
Protasi, F.1
Franzini-Armstrong, C.2
Allen, P.D.3
-
15
-
-
0033737002
-
3 have different roles in the assembly of calcium release units of skeletal muscle
-
3 have different roles in the assembly of calcium release units of skeletal muscle. Biophys J 79 (2000) 2494-2508
-
(2000)
Biophys J
, vol.79
, pp. 2494-2508
-
-
Protasi, F.1
Takekura, H.2
Wang, Y.3
-
17
-
-
0033605332
-
Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B-lymphocytes
-
Sei Y., Gallagher K.L., and Basile A.S. Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B-lymphocytes. J Biol Chem 274 (1999) 5995-6002
-
(1999)
J Biol Chem
, vol.274
, pp. 5995-6002
-
-
Sei, Y.1
Gallagher, K.L.2
Basile, A.S.3
-
18
-
-
0035500806
-
Expression of the ryanodine receptor isoforms in immune cells
-
Hosoi E., Nishizaki C., Gallagher K.L., Wyre H.W., Matsuo Y., and Sei Y. Expression of the ryanodine receptor isoforms in immune cells. J Immunol 167 (2001) 4887-4894
-
(2001)
J Immunol
, vol.167
, pp. 4887-4894
-
-
Hosoi, E.1
Nishizaki, C.2
Gallagher, K.L.3
Wyre, H.W.4
Matsuo, Y.5
Sei, Y.6
-
19
-
-
0037070183
-
Identification of functional type 1 ryanodine receptors in mouse dendritic cells
-
O'Connell P.J., Klyachko V.A., and Ahern G.P. Identification of functional type 1 ryanodine receptors in mouse dendritic cells. FEBS Lett 512 (2002) 67-70
-
(2002)
FEBS Lett
, vol.512
, pp. 67-70
-
-
O'Connell, P.J.1
Klyachko, V.A.2
Ahern, G.P.3
-
20
-
-
0035930557
-
B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators
-
Girard T., Cavagna D., Padovan E., et al. B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. J Biol Chem 276 (2001) 48077-48082
-
(2001)
J Biol Chem
, vol.276
, pp. 48077-48082
-
-
Girard, T.1
Cavagna, D.2
Padovan, E.3
-
21
-
-
33645796192
-
Functional properties of ryanodine receptors carrying 3 amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalised lymphocytes
-
Ducreux S., Zorzato F., Ferreiro A., et al. Functional properties of ryanodine receptors carrying 3 amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalised lymphocytes. Biochem J 395 (2006) 259-266
-
(2006)
Biochem J
, vol.395
, pp. 259-266
-
-
Ducreux, S.1
Zorzato, F.2
Ferreiro, A.3
-
22
-
-
0035660572
-
Identification of 4 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., et al. Identification of 4 novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Human Mol Genetics 25 (2001) 2879-2887
-
(2001)
Human Mol Genetics
, vol.25
, pp. 2879-2887
-
-
Tilgen, N.1
Zorzato, F.2
Halliger-Keller, B.3
-
23
-
-
0037440713
-
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., et al. Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Human Mol Gen 12 (2003) 379-388
-
(2003)
Human Mol Gen
, vol.12
, pp. 379-388
-
-
Zorzato, F.1
Yamaguchi, N.2
Xu, L.3
-
24
-
-
8844266044
-
Pilot trial of salbutamol in central core and multi-minicore diseases
-
Messina S., Hartley L., Main M., et al. Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics 35 5 (2004) 262-266
-
(2004)
Neuropediatrics
, vol.35
, Issue.5
, pp. 262-266
-
-
Messina, S.1
Hartley, L.2
Main, M.3
-
26
-
-
0033555567
-
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy
-
Tein I., Haslam R.H., Rhead W.J., Bennett M.J., Becker L.E., and Vockley J. Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. Neurology 52 (1999) 366-372
-
(1999)
Neurology
, vol.52
, pp. 366-372
-
-
Tein, I.1
Haslam, R.H.2
Rhead, W.J.3
Bennett, M.J.4
Becker, L.E.5
Vockley, J.6
-
27
-
-
8744305686
-
Missense mutations of ACTA1 cause dominant congenital myopathy with cores
-
Kaindl A.M., Ruschendorf F., Krause S., et al. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 41 (2004) 842-848
-
(2004)
J Med Genet
, vol.41
, pp. 842-848
-
-
Kaindl, A.M.1
Ruschendorf, F.2
Krause, S.3
-
28
-
-
33845977054
-
Nemaline myopathy with minicores caused by mutation of the CFL2 gene, encoding the skeletal muscle actin-binding protein, cofilin-2
-
Agrawal P.B., Greenleaf R.S., Tomczak K.K., et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene, encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 80 1 (2007) 162-167
-
(2007)
Am J Hum Genet
, vol.80
, Issue.1
, pp. 162-167
-
-
Agrawal, P.B.1
Greenleaf, R.S.2
Tomczak, K.K.3
-
29
-
-
34247620197
-
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy
-
Carmignac V., Salih M.A., Quijano-Roy S., et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 61 4 (2007) 340-351
-
(2007)
Ann Neurol
, vol.61
, Issue.4
, pp. 340-351
-
-
Carmignac, V.1
Salih, M.A.2
Quijano-Roy, S.3
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