-
1
-
-
0036365532
-
Periodic paralyses and nondystrophic myotonias
-
Renner DR, Ptacek LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol 2002;88:235-252.
-
(2002)
Adv Neurol
, vol.88
, pp. 235-252
-
-
Renner, D.R.1
Ptacek, L.J.2
-
3
-
-
0036310758
-
An expanding view for the molecular basis of familial periodic paralysis
-
Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromusc Disord 2002;12:533-543.
-
(2002)
Neuromusc Disord
, vol.12
, pp. 533-543
-
-
Cannon, S.C.1
-
4
-
-
0037264170
-
Overview of the voltage-gated sodium channel family
-
Yu FH, Catterall WA. Overview of the voltage-gated sodium channel family. Genome Biol 2003;4:207.
-
(2003)
Genome Biol
, vol.4
, pp. 207
-
-
Yu, F.H.1
Catterall, W.A.2
-
5
-
-
0034992428
-
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
-
Sternberg D, Maisonobe T, Jurkat-Rott K, et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124:1091-1099.
-
(2001)
Brain
, vol.124
, pp. 1091-1099
-
-
Sternberg, D.1
Maisonobe, T.2
Jurkat-Rott, K.3
-
6
-
-
0040565182
-
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current
-
Jurkat-Rott K, Mitrovic N, Hang C, et al. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci USA 2000;97:9549-9554.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 9549-9554
-
-
Jurkat-Rott, K.1
Mitrovic, N.2
Hang, C.3
-
7
-
-
85039472518
-
Electromyography guides towards subgroups of ion channel mutations in periodic paralyses and myotonia
-
September 23 [epub ahead of print]
-
Fournier E, Arzel M, Sternberg D, et al. Electromyography guides towards subgroups of ion channel mutations in periodic paralyses and myotonia. Ann Neurol 2004. September 23 [epub ahead of print].
-
(2004)
Ann Neurol
-
-
Fournier, E.1
Arzel, M.2
Sternberg, D.3
-
8
-
-
0033947677
-
Exercise test in muscle channelopathies and other muscle disorders
-
Kuntzer T, Flocard F, Vial C, et al. Exercise test in muscle channelopathies and other muscle disorders. Muscle Nerve 2000;23:1089-1094.
-
(2000)
Muscle Nerve
, vol.23
, pp. 1089-1094
-
-
Kuntzer, T.1
Flocard, F.2
Vial, C.3
-
10
-
-
0036327041
-
Normokalemic periodic paralysis revisited: Does it exist?
-
Chinnery PF, Walls TJ, Hanna MG, Bates D, Fawcett PR. Normokalemic periodic paralysis revisited: does it exist? Ann Neurol 2002;52:251-252.
-
(2002)
Ann Neurol
, vol.52
, pp. 251-252
-
-
Chinnery, P.F.1
Walls, T.J.2
Hanna, M.G.3
Bates, D.4
Fawcett, P.R.5
-
11
-
-
0028221445
-
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: Phenotype to genotype correlations and demonstration of the predominance of two mutations
-
Plassart E, Reboul J, Rime CS, et al. Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations. Eur J Hum Genet 1994;2:110-124.
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 110-124
-
-
Plassart, E.1
Reboul, J.2
Rime, C.S.3
-
12
-
-
0037336637
-
Crucial role of sodium channel fast inactivation in muscle fibre inexcitability in a rat model of critical illness myopathy
-
Rich MM, Pinter MJ. Crucial role of sodium channel fast inactivation in muscle fibre inexcitability in a rat model of critical illness myopathy. J Physiol 2003;547:555-566.
-
(2003)
J Physiol
, vol.547
, pp. 555-566
-
-
Rich, M.M.1
Pinter, M.J.2
-
13
-
-
0038070931
-
+ pump regulation and skeletal muscle contractility
-
+ pump regulation and skeletal muscle contractility. Physiol Rev 2003;83:1269-1324.
-
(2003)
Physiol Rev
, vol.83
, pp. 1269-1324
-
-
Clausen, T.1
-
14
-
-
0032801833
-
A novel sodium channel mutation in a family with hypokalemic periodic paralysis
-
Bulman DE, Scoggan KA, van Oene MD, et al. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 1999;53:1932-1936.
-
(1999)
Neurology
, vol.53
, pp. 1932-1936
-
-
Bulman, D.E.1
Scoggan, K.A.2
Van Oene, M.D.3
-
15
-
-
0035833968
-
Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK
-
Davies NP, Eunson LH, Samuel M, Hanna MG. Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. Neurology 2001;57:1323-1325.
-
(2001)
Neurology
, vol.57
, pp. 1323-1325
-
-
Davies, N.P.1
Eunson, L.H.2
Samuel, M.3
Hanna, M.G.4
-
16
-
-
0034842191
-
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis
-
Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptacek LJ. Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol 2001;50:417-420.
-
(2001)
Ann Neurol
, vol.50
, pp. 417-420
-
-
Bendahhou, S.1
Cummins, T.R.2
Griggs, R.C.3
Fu, Y.H.4
Ptacek, L.J.5
-
17
-
-
0037161246
-
Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
-
Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptacek LJ. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology 2002;58:1266-1272.
-
(2002)
Neurology
, vol.58
, pp. 1266-1272
-
-
Bendahhou, S.1
Cummins, T.R.2
Kula, R.W.3
Fu, Y.H.4
Ptacek, L.J.5
-
18
-
-
0025790174
-
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
-
Ptacek LJ, George AL Jr, Griggs RC, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991;67:1021-1027.
-
(1991)
Cell
, vol.67
, pp. 1021-1027
-
-
Ptacek, L.J.1
George Jr., A.L.2
Griggs, R.C.3
-
19
-
-
0035039125
-
Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica
-
Kim J, Hahn Y, Sohn EH, et al. Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J Neurol Neurosurg Psychiatry 2001;70:618-623.
-
(2001)
J Neurol Neurosurg Psychiatry
, vol.70
, pp. 618-623
-
-
Kim, J.1
Hahn, Y.2
Sohn, E.H.3
-
20
-
-
0141740617
-
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: Broadening the clinical spectrum associated with the T704M mutation in SCN4A
-
Brancati F, Valente EM, Davies NP, et al. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psychiatry 2003;74:1339-1341.
-
(2003)
J Neurol Neurosurg Psychiatry
, vol.74
, pp. 1339-1341
-
-
Brancati, F.1
Valente, E.M.2
Davies, N.P.3
-
21
-
-
0026937757
-
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel
-
McClatchey AI, McKenna-Yasek D, Cros D, et al. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet 1992;2:148-152.
-
(1992)
Nat Genet
, vol.2
, pp. 148-152
-
-
McClatchey, A.I.1
McKenna-Yasek, D.2
Cros, D.3
-
22
-
-
0033594335
-
Defective slow inactivation of sodium channels contributes to familial periodic paralysis
-
Hayward LJ, Sandoval GM, Cannon SC. Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology 1999;52:1447-1453.
-
(1999)
Neurology
, vol.52
, pp. 1447-1453
-
-
Hayward, L.J.1
Sandoval, G.M.2
Cannon, S.C.3
-
23
-
-
0034643866
-
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis
-
Sugiura Y, Aoki T, Sugiyama Y, Hida C, Ogata M, Yamamoto T. Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. Neurology 2000;54:2179-2181.
-
(2000)
Neurology
, vol.54
, pp. 2179-2181
-
-
Sugiura, Y.1
Aoki, T.2
Sugiyama, Y.3
Hida, C.4
Ogata, M.5
Yamamoto, T.6
-
24
-
-
0141959173
-
Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis
-
Sugiura Y, Makita N, Li L, et al. Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis. Neurology 2003;61:914-918.
-
(2003)
Neurology
, vol.61
, pp. 914-918
-
-
Sugiura, Y.1
Makita, N.2
Li, L.3
-
25
-
-
0027248018
-
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany
-
Lehmann-Horn F, Rudel R, Ricker K. Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. Neuromusc Disord 1993;3:161-168.
-
(1993)
Neuromusc Disord
, vol.3
, pp. 161-168
-
-
Lehmann-Horn, F.1
Rudel, R.2
Ricker, K.3
-
26
-
-
0027491539
-
Genotype-phenotype correlations in human skeletal muscle sodium channel diseases
-
Rudel R, Ricker K, Lehmann-Horn F. Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol 1993; 50:1241-1248.
-
(1993)
Arch Neurol
, vol.50
, pp. 1241-1248
-
-
Rudel, R.1
Ricker, K.2
Lehmann-Horn, F.3
-
27
-
-
0030697470
-
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity
-
Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F. A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology 1997;49:1018-1025.
-
(1997)
Neurology
, vol.49
, pp. 1018-1025
-
-
Wagner, S.1
Lerche, H.2
Mitrovic, N.3
Heine, R.4
George, A.L.5
Lehmann-Horn, F.6
-
28
-
-
0035788438
-
Hyperkalemic periodic paralysis and paramyotonia congenita - A novel sodium channel mutation
-
Okuda S, Kanda F, Nishimoto K, Sasaki R, Chihara K. Hyperkalemic periodic paralysis and paramyotonia congenita - a novel sodium channel mutation. J Neurol 2001;248:1003-1004.
-
(2001)
J Neurol
, vol.248
, pp. 1003-1004
-
-
Okuda, S.1
Kanda, F.2
Nishimoto, K.3
Sasaki, R.4
Chihara, K.5
-
29
-
-
0030271970
-
Paramyotonia congenita: Genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene
-
Plassart E, Eymard B, Maurs L, et al. Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. J Neurol Sci 1996;142:126-133.
-
(1996)
J Neurol Sci
, vol.142
, pp. 126-133
-
-
Plassart, E.1
Eymard, B.2
Maurs, L.3
-
30
-
-
10444284633
-
The sodium channel syndromes: Expanding the phenotype associated with SCN4A mutations
-
Davies NP, Sutton I, Winer JB, et al. The sodium channel syndromes: expanding the phenotype associated with SCN4A mutations. J Neurol Neurosurg Psychiatry 2002;73:229.
-
(2002)
J Neurol Neurosurg Psychiatry
, vol.73
, pp. 229
-
-
Davies, N.P.1
Sutton, I.2
Winer, J.B.3
-
31
-
-
0033842533
-
A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation
-
Bendahhou S, Cummins TR, Hahn AF, Langlois S, Waxman SG, Ptacek LJ. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. J Clin Invest 2000;106:431-438.
-
(2000)
J Clin Invest
, vol.106
, pp. 431-438
-
-
Bendahhou, S.1
Cummins, T.R.2
Hahn, A.F.3
Langlois, S.4
Waxman, S.G.5
Ptacek, L.J.6
-
32
-
-
0033564055
-
Activation and inactivation of the voltage-gated sodium channel: Role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation
-
Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptacek LJ. Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. J Neurosci 1999;19:4762-4771.
-
(1999)
J Neurosci
, vol.19
, pp. 4762-4771
-
-
Bendahhou, S.1
Cummins, T.R.2
Tawil, R.3
Waxman, S.G.4
Ptacek, L.J.5
-
33
-
-
0027468893
-
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis
-
Ptacek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993;33:300-307.
-
(1993)
Ann Neurol
, vol.33
, pp. 300-307
-
-
Ptacek, L.J.1
Gouw, L.2
Kwiecinski, H.3
-
35
-
-
0030970240
-
Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit - A large kindred with a novel phenotype
-
Kelly P, Yang WS, Costigan D, Farrell MA, Murphy S, Hardiman O. Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit - a large kindred with a novel phenotype. Neuromusc Disord 1997;7:105-111.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 105-111
-
-
Kelly, P.1
Yang, W.S.2
Costigan, D.3
Farrell, M.A.4
Murphy, S.5
Hardiman, O.6
-
36
-
-
0026766904
-
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
-
Ptacek LJ, George AL Jr, Barchi RL, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992;8:891-897.
-
(1992)
Neuron
, vol.8
, pp. 891-897
-
-
Ptacek, L.J.1
George Jr., A.L.2
Barchi, R.L.3
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