-
1
-
-
0001016223
-
J Periodic paralysis with cardiac arrhythmia
-
Klein R, Ganelin R, Marks JF, Usher P, Richards C. J Periodic paralysis with cardiac arrhythmia. J Pediatr 1963; 62: 371-385.
-
(1963)
J Pediatr
, vol.62
, pp. 371-385
-
-
Klein, R.1
Ganelin, R.2
Marks, J.F.3
Usher, P.4
Richards, C.5
-
2
-
-
0015124692
-
Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?
-
Andersen ED, Krasilnikoff PA, Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Paediatr Scand 1971; 60: 559-564.
-
(1971)
Acta Paediatr Scand
, vol.60
, pp. 559-564
-
-
Andersen, E.D.1
Krasilnikoff, P.A.2
Overvad, H.3
-
3
-
-
0028298042
-
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
-
Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994; 35: 326-330.
-
(1994)
Ann Neurol
, vol.35
, pp. 326-330
-
-
Tawil, R.1
Ptacek, L.J.2
Pavlakis, S.G.3
DeVivo, D.C.4
Penn, A.S.5
Ozdemir, C.6
-
4
-
-
26444448949
-
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation
-
Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, et al. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology 2005; 65: 1083-1089.
-
(2005)
Neurology
, vol.65
, pp. 1083-1089
-
-
Davies, N.P.1
Imbrici, P.2
Fialho, D.3
Herd, C.4
Bilsland, L.G.5
Weber, A.6
-
5
-
-
0030768672
-
Andersen's syndrome: a distinct periodic paralysis
-
Sansone V, Griggs RC, Meola G, Ptacek LJ, Barohn R, Iannaccone S, et al. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 1997; 42: 305-312.
-
(1997)
Ann Neurol
, vol.42
, pp. 305-312
-
-
Sansone, V.1
Griggs, R.C.2
Meola, G.3
Ptacek, L.J.4
Barohn, R.5
Iannaccone, S.6
-
6
-
-
0036324229
-
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
-
Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002; 110: 381-388.
-
(2002)
J Clin Invest
, vol.110
, pp. 381-388
-
-
Tristani-Firouzi, M.1
Jensen, J.L.2
Donaldson, M.R.3
Sansone, V.4
Meola, G.5
Hahn, A.6
-
7
-
-
20344388309
-
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype
-
Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation 2005; 111: 2720-2726.
-
(2005)
Circulation
, vol.111
, pp. 2720-2726
-
-
Zhang, L.1
Benson, D.W.2
Tristani-Firouzi, M.3
Ptacek, L.J.4
Tawil, R.5
Schwartz, P.J.6
-
8
-
-
0037777713
-
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
-
Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, et al. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology 2003; 60: 1811-1816.
-
(2003)
Neurology
, vol.60
, pp. 1811-1816
-
-
Donaldson, M.R.1
Jensen, J.L.2
Tristani-Firouzi, M.3
Tawil, R.4
Bendahhou, S.5
Suarez, W.A.6
-
9
-
-
0036724842
-
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes
-
Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 2002; 71: 663-668.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 663-668
-
-
Andelfinger, G.1
Tapper, A.R.2
Welch, R.C.3
Vanoye, C.G.4
George Jr, A.L.5
Benson, D.W.6
-
10
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001; 105: 511-519.
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
Canun, S.4
Bendahhou, S.5
Tsunoda, A.6
-
11
-
-
33947530651
-
Management and treatment of Andersen-Tawil syndrome (ATS)
-
Sansone V, Tawil R. Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics 2007; 4: 233-237.
-
(2007)
Neurotherapeutics
, vol.4
, pp. 233-237
-
-
Sansone, V.1
Tawil, R.2
-
12
-
-
84857628246
-
Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies
-
Tricarico D, Camerino DC. Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies. Front Pharmacol 2011; 2: 8.
-
(2011)
Front Pharmacol
, vol.2
, pp. 8
-
-
Tricarico, D.1
Camerino, D.C.2
-
13
-
-
0032542987
-
Dynamic Ca2+-induced inward rectification of K+ current during the ventricular action potential
-
Zaza A, Rocchetti M, Brioschi A, Cantadori A, Ferroni A. Dynamic Ca2+-induced inward rectification of K+ current during the ventricular action potential. Circ Res 1998; 82: 947-956.
-
(1998)
Circ Res
, vol.82
, pp. 947-956
-
-
Zaza, A.1
Rocchetti, M.2
Brioschi, A.3
Cantadori, A.4
Ferroni, A.5
-
14
-
-
0023132920
-
Ohmic conductance through the inwardly rectifying K channel and blocking by internal Mg2+
-
Matsuda H, Saigusa A, Irisawa H. Ohmic conductance through the inwardly rectifying K channel and blocking by internal Mg2+. Nature 1987; 325: 156-159.
-
(1987)
Nature
, vol.325
, pp. 156-159
-
-
Matsuda, H.1
Saigusa, A.2
Irisawa, H.3
-
15
-
-
0027984375
-
Potassium channel block by cytoplasmic polyamines as the mechanism of intrinsic rectification
-
Lopatin AN, Makhina EN, Nichols CG. Potassium channel block by cytoplasmic polyamines as the mechanism of intrinsic rectification. Nature 1994; 372: 366-369.
-
(1994)
Nature
, vol.372
, pp. 366-369
-
-
Lopatin, A.N.1
Makhina, E.N.2
Nichols, C.G.3
-
16
-
-
80052751108
-
A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome
-
Doi T, Makiyama T, Morimoto T, Haruna Y, Tsuji K, Ohno S, et al. A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome. Circ Cardiovasc Genet 2011; 4: 253-260.
-
(2011)
Circ Cardiovasc Genet
, vol.4
, pp. 253-260
-
-
Doi, T.1
Makiyama, T.2
Morimoto, T.3
Haruna, Y.4
Tsuji, K.5
Ohno, S.6
-
17
-
-
0037071897
-
Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies
-
Lopes CM, Zhang H, Rohacs T, Jin T, Yang J, Logothetis DE. Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron 2002; 34: 933-944.
-
(2002)
Neuron
, vol.34
, pp. 933-944
-
-
Lopes, C.M.1
Zhang, H.2
Rohacs, T.3
Jin, T.4
Yang, J.5
Logothetis, D.E.6
-
18
-
-
0347064347
-
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome
-
Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu YH, Ptacek LJ. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem 2003; 278: 51779-51785.
-
(2003)
J Biol Chem
, vol.278
, pp. 51779-51785
-
-
Bendahhou, S.1
Donaldson, M.R.2
Plaster, N.M.3
Tristani-Firouzi, M.4
Fu, Y.H.5
Ptacek, L.J.6
-
19
-
-
21344466555
-
In vivo and in vitro functional characterization of Andersen's syndrome mutations
-
Bendahhou S, Fournier E, Sternberg D, Bassez G, Furby A, Sereni C, et al. In vivo and in vitro functional characterization of Andersen's syndrome mutations. J Physiol 2005; 565: 731-741.
-
(2005)
J Physiol
, vol.565
, pp. 731-741
-
-
Bendahhou, S.1
Fournier, E.2
Sternberg, D.3
Bassez, G.4
Furby, A.5
Sereni, C.6
-
20
-
-
0037975497
-
Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression
-
Miake J, Marban E, Nuss HB. Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression. J Clin Invest 2003; 111: 1529-1536.
-
(2003)
J Clin Invest
, vol.111
, pp. 1529-1536
-
-
Miake, J.1
Marban, E.2
Nuss, H.B.3
-
21
-
-
14644400497
-
The inward rectifier current (IK1) controls cardiac excitability and is involved in arrhythmogenesis
-
Dhamoon AS, Jalife J. The inward rectifier current (IK1) controls cardiac excitability and is involved in arrhythmogenesis. Heart Rhythm 2005; 2: 316-324.
-
(2005)
Heart Rhythm
, vol.2
, pp. 316-324
-
-
Dhamoon, A.S.1
Jalife, J.2
-
23
-
-
0035858872
-
Human myoblast fusion requires expression of functional inward rectifier Kir2.1 channels
-
Fischer-Lougheed J, Liu JH, Espinos E, Mordasini D, Bader CR, Belin D, et al. Human myoblast fusion requires expression of functional inward rectifier Kir2.1 channels. J Cell Biol 2001; 153: 677-686.
-
(2001)
J Cell Biol
, vol.153
, pp. 677-686
-
-
Fischer-Lougheed, J.1
Liu, J.H.2
Espinos, E.3
Mordasini, D.4
Bader, C.R.5
Belin, D.6
-
24
-
-
0032528069
-
Role of an inward rectifier K+ current and of hyperpolarization in human myoblast fusion
-
Liu JH, Bijlenga P, Fischer-Lougheed J, Occhiodoro T, Kaelin A, Bader CR, et al. Role of an inward rectifier K+ current and of hyperpolarization in human myoblast fusion. J Physiol 1998; 510( Pt 2): 467-476.
-
(1998)
J Physiol
, vol.510
, Issue.PART. 2
, pp. 467-476
-
-
Liu, J.H.1
Bijlenga, P.2
Fischer-Lougheed, J.3
Occhiodoro, T.4
Kaelin, A.5
Bader, C.R.6
-
25
-
-
70349929474
-
Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes
-
Sacconi S, Simkin D, Arrighi N, Chapon F, Larroque MM, Vicart S, et al. Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes. Am J Physiol Cell Physiol 2009; 297: C876-C885.
-
(2009)
Am J Physiol Cell Physiol
, vol.297
-
-
Sacconi, S.1
Simkin, D.2
Arrighi, N.3
Chapon, F.4
Larroque, M.M.5
Vicart, S.6
-
27
-
-
79952514078
-
Refined exercise testing can aid dna-based diagnosis in muscle channelopathies
-
Tan SV, Matthews E, Barber M, Burge JA, Rajakulendran S, Fialho D, et al. Refined exercise testing can aid dna-based diagnosis in muscle channelopathies. Ann Neurol 2011; 69: 328-340.
-
(2011)
Ann Neurol
, vol.69
, pp. 328-340
-
-
Tan, S.V.1
Matthews, E.2
Barber, M.3
Burge, J.A.4
Rajakulendran, S.5
Fialho, D.6
-
28
-
-
0032988783
-
The exercise test in Andersen syndrome
-
Katz JS, Wolfe GI, Iannaccone S, Bryan WW, Barohn RJ. The exercise test in Andersen syndrome. Arch Neurol 1999; 56: 352-356.
-
(1999)
Arch Neurol
, vol.56
, pp. 352-356
-
-
Katz, J.S.1
Wolfe, G.I.2
Iannaccone, S.3
Bryan, W.W.4
Barohn, R.J.5
-
29
-
-
65949089402
-
Velocity recovery cycles of human muscle action potentials and their sensitivity to ischemia
-
Z'graggen WJ, Bostock H. Velocity recovery cycles of human muscle action potentials and their sensitivity to ischemia. Muscle Nerve 2009; 39: 616-626.
-
(2009)
Muscle Nerve
, vol.39
, pp. 616-626
-
-
Z'graggen, W.J.1
Bostock, H.2
-
30
-
-
0025911615
-
Muscle fiber recovery functions studied with double pulse stimulation
-
Mihelin M, Trontelj JV, Stalberg E. Muscle fiber recovery functions studied with double pulse stimulation. Muscle Nerve 1991; 14: 739-747.
-
(1991)
Muscle Nerve
, vol.14
, pp. 739-747
-
-
Mihelin, M.1
Trontelj, J.V.2
Stalberg, E.3
-
31
-
-
0013990468
-
Propagation velocity in human muscle fibers in situ
-
Stalberg E. Propagation velocity in human muscle fibers in situ. Acta Physiol Scand Suppl 1966; 287: 1-112.
-
(1966)
Acta Physiol Scand Suppl
, vol.287
, pp. 1-112
-
-
Stalberg, E.1
-
32
-
-
0014980674
-
The negative after potential of human muscle fibers
-
Bergmans J. The negative after potential of human muscle fibers. Arch Int Physiol Biochim 1971; 79: 187-188.
-
(1971)
Arch Int Physiol Biochim
, vol.79
, pp. 187-188
-
-
Bergmans, J.1
-
33
-
-
0020005026
-
Intracellular recording from vertebrate myelinated axons: mechanism of the depolarizing afterpotential
-
Barrett EF, Barrett JN. Intracellular recording from vertebrate myelinated axons: mechanism of the depolarizing afterpotential. J Physiol 1982; 323: 117-144.
-
(1982)
J Physiol
, vol.323
, pp. 117-144
-
-
Barrett, E.F.1
Barrett, J.N.2
-
34
-
-
65949086725
-
Negative after-potential of frog's skeletal muscle
-
Frank GB. Negative after-potential of frog's skeletal muscle. J Neurophysiol 1957; 20: 602-614.
-
(1957)
J Neurophysiol
, vol.20
, pp. 602-614
-
-
Frank, G.B.1
-
35
-
-
77952419942
-
Velocity recovery cycles of human muscle action potentials in chronic renal failure
-
Z'graggen WJ, Aregger F, Farese S, Humm AM, Baumann C, Uehlinger DE, et al. Velocity recovery cycles of human muscle action potentials in chronic renal failure. Clin Neurophysiol 2010; 121: 874-881.
-
(2010)
Clin Neurophysiol
, vol.121
, pp. 874-881
-
-
Z'graggen, W.J.1
Aregger, F.2
Farese, S.3
Humm, A.M.4
Baumann, C.5
Uehlinger, D.E.6
-
36
-
-
0035875149
-
The consequences of disrupting cardiac inwardly rectifying K(+) current (I(K1)) as revealed by the targeted deletion of the murine Kir2.1 and Kir2.2 genes
-
Zaritsky JJ, Redell JB, Tempel BL, Schwarz TL. The consequences of disrupting cardiac inwardly rectifying K(+) current (I(K1)) as revealed by the targeted deletion of the murine Kir2.1 and Kir2.2 genes. J Physiol 2001; 533: 697-710.
-
(2001)
J Physiol
, vol.533
, pp. 697-710
-
-
Zaritsky, J.J.1
Redell, J.B.2
Tempel, B.L.3
Schwarz, T.L.4
-
37
-
-
0344885673
-
The relation between the late after-potential and the size of the transverse tubular system of frog muscle
-
Freygang WH Jr, Goldstein DA, Hellam DC, Peachey LD. The relation between the late after-potential and the size of the transverse tubular system of frog muscle. J Gen Physiol 1964; 48: 235-263.
-
(1964)
J Gen Physiol
, vol.48
, pp. 235-263
-
-
Freygang Jr, W.H.1
Goldstein, D.A.2
Hellam, D.C.3
Peachey, L.D.4
-
38
-
-
0017708899
-
Some properties of late after-potential in frog skeletal muscle fiber
-
Hino N. Some properties of late after-potential in frog skeletal muscle fiber. Jpn J Physiol 1977; 27: 235-250.
-
(1977)
Jpn J Physiol
, vol.27
, pp. 235-250
-
-
Hino, N.1
-
39
-
-
79952315403
-
Muscle membrane dysfunction in critical illness myopathy assessed by velocity recovery cycles
-
Z'graggen WJ, Brander L, Tuchscherer D, Scheidegger O, Takala J, Bostock H. Muscle membrane dysfunction in critical illness myopathy assessed by velocity recovery cycles. Clin Neurophysiol 2011; 122: 834-841.
-
(2011)
Clin Neurophysiol
, vol.122
, pp. 834-841
-
-
Z'graggen, W.J.1
Brander, L.2
Tuchscherer, D.3
Scheidegger, O.4
Takala, J.5
Bostock, H.6
-
40
-
-
80053203963
-
Velocity recovery cycles of human muscle action potentials: repeatability and variability
-
Z'graggen WJ, Troller R, Ackermann KA, Humm AM, Bostock H. Velocity recovery cycles of human muscle action potentials: repeatability and variability. Clin Neurophysiol 2011; 122: 2294-2299.
-
(2011)
Clin Neurophysiol
, vol.122
, pp. 2294-2299
-
-
Z'graggen, W.J.1
Troller, R.2
Ackermann, K.A.3
Humm, A.M.4
Bostock, H.5
-
41
-
-
80855138769
-
Muscle ischaemia in patients with orthostatic hypotension assessed by velocity recovery cycles
-
Humm AM, Bostock H, Troller R, Z'graggen WJ. Muscle ischaemia in patients with orthostatic hypotension assessed by velocity recovery cycles. J Neurol Neurosurg Psychiatry 2011; 82: 1394-1398.
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, pp. 1394-1398
-
-
Humm, A.M.1
Bostock, H.2
Troller, R.3
Z'graggen, W.J.4
|