-
1
-
-
0015124692
-
Intermittent muscular weakness, extrasystoles, and multiple developmental abnormalities: a new syndrome?
-
Andersen E.D., Krasilnikoff P.A., and Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmental abnormalities: a new syndrome?. Acta Pediatr Scand 60 (1971) 559-564
-
(1971)
Acta Pediatr Scand
, vol.60
, pp. 559-564
-
-
Andersen, E.D.1
Krasilnikoff, P.A.2
Overvad, H.3
-
2
-
-
0028298042
-
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
-
Tawil R., Ptacek L.J., Pavlakis S.G., et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 35 (1994) 326-330
-
(1994)
Ann Neurol
, vol.35
, pp. 326-330
-
-
Tawil, R.1
Ptacek, L.J.2
Pavlakis, S.G.3
-
3
-
-
0030768672
-
Andersen's syndrome: a distinct periodic paralysis
-
Sansone V., Griggs R.C., Meola G., Ptacek L.J., Barohn R., Iannaccone S., Bryan W., Baker N., Janas S.J., Scott W., Ririe D., and Tawil R. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 42 (1997) 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
Bryan, W.7
Baker, N.8
Janas, S.J.9
Scott, W.10
Ririe, D.11
Tawil, R.12
-
4
-
-
0345620973
-
Andersen syndrome autosomal dominant in three generations
-
Canun S., Perez N., and Beirana L.G. Andersen syndrome autosomal dominant in three generations. Am J Med Genet 85 (1999) 147-156
-
(1999)
Am J Med Genet
, vol.85
, pp. 147-156
-
-
Canun, S.1
Perez, N.2
Beirana, L.G.3
-
5
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster N.M., Tawil R., Tristani-Firouzi M., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105 (2001) 511-519
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
-
6
-
-
0036324229
-
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
-
Tristani-Firouzi M., Jensen J.L., Donaldson M.R., et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 110 (2002) 381-388
-
(2002)
J Clin Invest
, vol.110
, pp. 381-388
-
-
Tristani-Firouzi, M.1
Jensen, J.L.2
Donaldson, M.R.3
-
7
-
-
33745492545
-
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing
-
Tester D.J., Arya P., Will M., et al. Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm 3 (2006) 800-805
-
(2006)
Heart Rhythm
, vol.3
, pp. 800-805
-
-
Tester, D.J.1
Arya, P.2
Will, M.3
-
8
-
-
0036724842
-
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes
-
Andelfinger G., Tapper A.R., Welch R.C., Vanoye C.G., George Jr. A.L., and Benson D.W. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 71 (2002) 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
-
9
-
-
26444448949
-
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation
-
Davies N.P., Imbrici P., Fialho D., et al. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology 65 (2005) 1083-1089
-
(2005)
Neurology
, vol.65
, pp. 1083-1089
-
-
Davies, N.P.1
Imbrici, P.2
Fialho, D.3
-
10
-
-
0036141017
-
Long QT syndrome: diagnosis and management
-
Khan I.A. Long QT syndrome: diagnosis and management. Am Heart J 143 (2002) 7-14
-
(2002)
Am Heart J
, vol.143
, pp. 7-14
-
-
Khan, I.A.1
-
11
-
-
20344388309
-
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype
-
Zhang L., Benson D.W., Tristani-Firouzi M., et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation 111 (2005) 2720-2726
-
(2005)
Circulation
, vol.111
, pp. 2720-2726
-
-
Zhang, L.1
Benson, D.W.2
Tristani-Firouzi, M.3
-
12
-
-
33144477356
-
Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7)
-
Tsuboi M., and Antzelevitch C. Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7). Heart Rhythm 3 (2006) 328-335
-
(2006)
Heart Rhythm
, vol.3
, pp. 328-335
-
-
Tsuboi, M.1
Antzelevitch, C.2
-
13
-
-
33750298629
-
A family with Andersen-Tawil syndrome and dilated cardiomyopathy
-
Schoonderwoerd B.A., Wiesfeld A.C., Wilde A.A., et al. A family with Andersen-Tawil syndrome and dilated cardiomyopathy. Heart Rhythm 3 (2006) 1346-1350
-
(2006)
Heart Rhythm
, vol.3
, pp. 1346-1350
-
-
Schoonderwoerd, B.A.1
Wiesfeld, A.C.2
Wilde, A.A.3
-
15
-
-
9144223871
-
Electromyography guides toward subgroups of mutations in muscle channelopathies
-
Fournier E., Arzel M., Sternberg D., et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 56 (2004) 650-661
-
(2004)
Ann Neurol
, vol.56
, pp. 650-661
-
-
Fournier, E.1
Arzel, M.2
Sternberg, D.3
-
16
-
-
0032988783
-
The exercise test in Andersen syndrome
-
Katz J.S., Wolfe G.I., Iannaccone S., Bryan W.W., and Barohn R.J. The exercise test in Andersen syndrome. Arch Neurol 56 (1999) 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
-
17
-
-
0035908917
-
Channelopathies: Kir2.1 mutations jeopardize many cell functions
-
Jongsma H.J., and Wilders R. Channelopathies: Kir2.1 mutations jeopardize many cell functions. Curr Biol 11 (2001) R747-R750
-
(2001)
Curr Biol
, vol.11
-
-
Jongsma, H.J.1
Wilders, R.2
-
18
-
-
0034978315
-
Inward rectifiers in the heart: an update on Ik1
-
Lopatin A.N., and Nicholas C.G. Inward rectifiers in the heart: an update on Ik1. J Mol Cell Cardiol 1 (2001) 625-638
-
(2001)
J Mol Cell Cardiol
, vol.1
, pp. 625-638
-
-
Lopatin, A.N.1
Nicholas, C.G.2
-
19
-
-
0037062467
-
A glutamate residue at the C-terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome
-
Chen L., Kawano T., Bajic S., et al. A glutamate residue at the C-terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome. Proc Natl Acad Sci U S A 99 (2002) 8430-8435
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 8430-8435
-
-
Chen, L.1
Kawano, T.2
Bajic, S.3
-
20
-
-
0037384899
-
Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome
-
Hosaka Y., Hanawa H., Washizuka T., et al. Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome. J Mol Cell Cardiol 35 (2003) 409-415
-
(2003)
J Mol Cell Cardiol
, vol.35
, pp. 409-415
-
-
Hosaka, Y.1
Hanawa, H.2
Washizuka, T.3
-
21
-
-
0037777713
-
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
-
Donaldson M.R., Jensen J.L., Tristani-Firouzi M., et al. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology 60 (2003) 1811-1816
-
(2003)
Neurology
, vol.60
, pp. 1811-1816
-
-
Donaldson, M.R.1
Jensen, J.L.2
Tristani-Firouzi, M.3
-
22
-
-
0347064347
-
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome
-
Bendahhou S., Donaldson M.R., Plaster N.M., Tristani-Firouzi M., Fu Y.H., and Ptacek L.J. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem 278 (2003) 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
-
23
-
-
0037188493
-
Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome
-
Preisig-Muller R., Schlichthorl G., Goerge T., et al. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. Proc Natl Acad Sci U S A 99 (2002) 7774-7779
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 7774-7779
-
-
Preisig-Muller, R.1
Schlichthorl, G.2
Goerge, T.3
-
24
-
-
2442682788
-
Andersen-Tawil syndrome: a model of clinical variability, pleiotropy and genetic heterogeneity
-
Donaldson M.R., Yoon G., Fu Y.H., and Ptacek L.J. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy and genetic heterogeneity. Ann Med 36 (2004) 92-97
-
(2004)
Ann Med
, vol.36
, pp. 92-97
-
-
Donaldson, M.R.1
Yoon, G.2
Fu, Y.H.3
Ptacek, L.J.4
-
25
-
-
33745653338
-
Andersen-Tawil syndrome: definition of a neurocognitive phenotype
-
Yoon G., Quitania L., Kramer J.H., Fu Y.H., Miller B.L., and Ptacek L.J. Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology 66 (2006) 1703-1710
-
(2006)
Neurology
, vol.66
, pp. 1703-1710
-
-
Yoon, G.1
Quitania, L.2
Kramer, J.H.3
Fu, Y.H.4
Miller, B.L.5
Ptacek, L.J.6
-
26
-
-
0025237402
-
N of 1 randomized trials for investigating new drugs
-
Guyatt G.H., Heyting A., Jaeschke R., Keller J., Adachi J.D., and Roberts R.S. N of 1 randomized trials for investigating new drugs. Control Clin Trials 11 (1990) 88-100
-
(1990)
Control Clin Trials
, vol.11
, pp. 88-100
-
-
Guyatt, G.H.1
Heyting, A.2
Jaeschke, R.3
Keller, J.4
Adachi, J.D.5
Roberts, R.S.6
-
27
-
-
0033958202
-
Randomized trials of dichlorphenamide in the periodic paralyses
-
Working Group on Periodic Paralysis
-
Tawil R., McDermott M.P., Brown Jr. R., et al., Working Group on Periodic Paralysis. Randomized trials of dichlorphenamide in the periodic paralyses. Ann Neurol 47 (2000) 46-53
-
(2000)
Ann Neurol
, vol.47
, pp. 46-53
-
-
Tawil, R.1
McDermott, M.P.2
Brown Jr., R.3
|