-
1
-
-
84986575661
-
Structure of the voltage-gated calcium channel Ca(v)1.1 at 3.6 A resolution
-
Wu J, Yan Z, Li Z, et al. Structure of the voltage-gated calcium channel Ca(v)1.1 at 3.6 A resolution. Nature 2016; 537: 191–196.
-
(2016)
Nature
, vol.537
, pp. 191-196
-
-
Wu, J.1
Yan, Z.2
Li, Z.3
-
2
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
-
Ptacek LJ, Tawil R, Griggs RC, et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994; 77: 863–868.
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
-
3
-
-
0030922550
-
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle
-
Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 1997; 60: 1316–1325.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1316-1325
-
-
Monnier, N.1
Procaccio, V.2
Stieglitz, P.3
Lunardi, J.4
-
4
-
-
84890604639
-
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation
-
Fan C, Lehmann-Horn F, Weber MA, et al. Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation. Brain 2013; 136: 3775–3786.
-
(2013)
Brain
, vol.136
, pp. 3775-3786
-
-
Fan, C.1
Lehmann-Horn, F.2
Weber, M.A.3
-
5
-
-
85007190235
-
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
-
Schartner V, Romero NB, Donkervoort S, et al. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathol 2017; 133: 517–533.
-
(2017)
Acta Neuropathol
, vol.133
, pp. 517-533
-
-
Schartner, V.1
Romero, N.B.2
Donkervoort, S.3
-
6
-
-
84977090879
-
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia
-
Schiemann AH, Stowell KM. Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia. Br J Anaesth 2016; 117: 124–128.
-
(2016)
Br J Anaesth
, vol.117
, pp. 124-128
-
-
Schiemann, A.H.1
Stowell, K.M.2
-
7
-
-
84962866792
-
Channelopathies of skeletal muscle excitability
-
Cannon SC. Channelopathies of skeletal muscle excitability. Compr Physiol 2015; 5: 761–790.
-
(2015)
Compr Physiol
, vol.5
, pp. 761-790
-
-
Cannon, S.C.1
-
8
-
-
84964313350
-
A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy
-
Yang B, Yang Y, Tu W, Shen Y, Dong Q. A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy. BMC Urol 2014; 14: 96.
-
(2014)
BMC Urol
, vol.14
, pp. 96
-
-
Yang, B.1
Yang, Y.2
Tu, W.3
Shen, Y.4
Dong, Q.5
-
9
-
-
0028854326
-
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNLIA3): genotype/phenotype correlation for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families
-
Elbaz A, Vale-Santos J, Jurkat-Rott K, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNLIA3): genotype/phenotype correlation for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 1995; 56: 374–380.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 374-380
-
-
Elbaz, A.1
Vale-Santos, J.2
Jurkat-Rott, K.3
-
10
-
-
84861209384
-
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2++ channel and the type 1 ryanodine receptor
-
Eltit JM, Bannister RA, Moua O, et al. Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2++ channel and the type 1 ryanodine receptor. Proc Natl Acad Sci USA 2012; 109: 7923–7928.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 7923-7928
-
-
Eltit, J.M.1
Bannister, R.A.2
Moua, O.3
-
12
-
-
4544330774
-
Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III−IV loop on skeletal muscle EC coupling
-
Weiss RG, O'Connell KMS, Flucher BE, et al. Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III−IV loop on skeletal muscle EC coupling. Am J Physiol Cell Physiol 2004; 287: C1094–C1102.
-
(2004)
Am J Physiol Cell Physiol
, vol.287
, pp. C1094-C1102
-
-
Weiss, R.G.1
O'Connell, K.M.S.2
Flucher, B.E.3
-
13
-
-
84963799991
-
Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test
-
Roux-Buisson N, Monnier N, Sagui E, et al. Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test. Br J Anaesth 2016; 116: 566–568.
-
(2016)
Br J Anaesth
, vol.116
, pp. 566-568
-
-
Roux-Buisson, N.1
Monnier, N.2
Sagui, E.3
-
14
-
-
84994887758
-
217th ENMC International Workshop: RYR1-related Myopathies, Naarden, The Netherlands, 29−31 January 2016
-
Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. 217th ENMC International Workshop: RYR1-related Myopathies, Naarden, The Netherlands, 29−31 January 2016. Neuromuscul Disord 2016; 26: 624–633.
-
(2016)
Neuromuscul Disord
, vol.26
, pp. 624-633
-
-
Jungbluth, H.1
Dowling, J.J.2
Ferreiro, A.3
Muntoni, F.4
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